CDKAL1

Summary

Gene Symbol: CDKAL1
Description: CDK5 regulatory subunit associated protein 1 like 1
Alias: threonylcarbamoyladenosine tRNA methylthiotransferase, tRNA-t(6)A37 methylthiotransferase
Species: human

Top Publications

  1. doi Polymorphisms identified through genome-wide association studies and their associations with type 2 diabetes in Chinese, Malays, and Asian-Indians in Singapore
    Jonathan T Tan
    Department of Epidemiology and Public Health, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
    J Clin Endocrinol Metab 95:390-7. 2010
  2. pmc Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program
    Allan F Moore
    Center for Human Genetic Research, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA
    Diabetes 57:2503-10. 2008
  3. pmc Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study
    Mandy van Hoek
    Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands
    Diabetes 57:3122-8. 2008
  4. pmc Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
    Science 316:1336-41. 2007
  5. ncbi Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function
    Laura Pascoe
    Diabetes Research Group, Newcastle University, Newcastle upon Tyne, UK
    Diabetes 56:3101-4. 2007
  6. doi Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study
    Stephane Cauchi
    CNRS 8090 Institute of Biology, Pasteur Institute, Lille, France
    J Mol Med (Berl) 86:341-8. 2008
  7. pmc Association analysis of type 2 diabetes Loci in type 1 diabetes
    Hui Qi Qu
    Departments of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada
    Diabetes 57:1983-6. 2008
  8. ncbi A variant in CDKAL1 influences insulin response and risk of type 2 diabetes
    Valgerdur Steinthorsdottir
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:770-5. 2007
  9. ncbi Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
    Richa Saxena
    Broad Institute of Harvard and Massachusetts Institute of Technology MIT, Cambridge, MA 02142, USA
    Science 316:1331-6. 2007
  10. pmc A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
    Laura J Scott
    Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Science 316:1341-5. 2007

Research Grants

  1. ALEXANDER BANKS; Fiscal Year: 2014
  2. REGULATION OF HEPATIC INSULIN EXTRACTION
    Kenneth S Polonsky; Fiscal Year: 2013
  3. Sonia Caprio; Fiscal Year: 2014
  4. Joel M Gelfand; Fiscal Year: 2016
  5. HYPERGLYCEMIA AND VASCULAR CELL SIGNALING
    WILLIAM LOWE; Fiscal Year: 2001
  6. PDX-1 Expression and Embryonic Stem Cells
    WILLIAM LOWE; Fiscal Year: 2004
  7. Promoting Islet Transplantation with Synthetic Scaffolds
    WILLIAM LOWE; Fiscal Year: 2004
  8. Diabetes Genes: Maternal Glycemia and Birth Weight
    WILLIAM LOWE; Fiscal Year: 2008
  9. Replication of GWAS for Maternal Glycemia, Birthweight and their Interaction
    WILLIAM LOWE; Fiscal Year: 2009
  10. Phenotype-Genotype Interactions and Type 2 Diabetes
    James Meigs; Fiscal Year: 2005

Scientific Experts

Detail Information

Publications108 found, 100 shown here

  1. doi Polymorphisms identified through genome-wide association studies and their associations with type 2 diabetes in Chinese, Malays, and Asian-Indians in Singapore
    Jonathan T Tan
    Department of Epidemiology and Public Health, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
    J Clin Endocrinol Metab 95:390-7. 2010
    ..However, the association in other East Asian populations is less well characterized...
  2. pmc Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program
    Allan F Moore
    Center for Human Genetic Research, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA
    Diabetes 57:2503-10. 2008
    ....
  3. pmc Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study
    Mandy van Hoek
    Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands
    Diabetes 57:3122-8. 2008
    ..Genome-wide association (GWA) studies identified multiple new genetic variants that associate with type 2 diabetes. The predictive value of genetic testing for prediction of type 2 diabetes in the general population is unclear...
  4. pmc Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
    Science 316:1336-41. 2007
    ..We detected diabetes susceptibility loci in and around the genes CDKAL1, CDKN2A/CDKN2B, and IGF2BP2 and confirmed the recently described associations at HHEX/IDE and SLC30A8...
  5. ncbi Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function
    Laura Pascoe
    Diabetes Research Group, Newcastle University, Newcastle upon Tyne, UK
    Diabetes 56:3101-4. 2007
    ..Genome-wide association studies have identified common, novel type 2 diabetes susceptibility loci within the FTO, CDKAL1, CDKN2A/CDKN2B, IGF2BP2, HHEX/IDE, and SLC30A8 gene regions...
  6. doi Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study
    Stephane Cauchi
    CNRS 8090 Institute of Biology, Pasteur Institute, Lille, France
    J Mol Med (Berl) 86:341-8. 2008
    ..22 polymorphisms within 14 loci showing nominal to strong association with T2D in recently published GWA analyses (CDKAL1, IGFBP2, CDKN2A/2B, EXT2, HHEX, LOC646279, SLC30A8, MMP26, KCTD12, LDLR, CAMTA1, LOC38776, NGN3 and CXCR4)...
  7. pmc Association analysis of type 2 diabetes Loci in type 1 diabetes
    Hui Qi Qu
    Departments of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada
    Diabetes 57:1983-6. 2008
    To search for a possible association of type 1 diabetes with 10 validated type 2 diabetes loci, i.e., PPARG, KCNJ11, WFS1, HNF1B, IDE/HHEX, SLC30A8, CDKAL1, CDKN2A/B, IGF2BP2, and FTO/RPGRIP1L.
  8. ncbi A variant in CDKAL1 influences insulin response and risk of type 2 diabetes
    Valgerdur Steinthorsdottir
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:770-5. 2007
    ..In addition to confirming two recently identified risk variants, we identified a variant in the CDKAL1 gene that was associated with T2D in individuals of European ancestry (allele-specific odds ratio (OR) = 1...
  9. ncbi Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
    Richa Saxena
    Broad Institute of Harvard and Massachusetts Institute of Technology MIT, Cambridge, MA 02142, USA
    Science 316:1331-6. 2007
    ..loci associated with T2D-in a noncoding region near CDKN2A and CDKN2B, in an intron of IGF2BP2, and an intron of CDKAL1-and replicated associations near HHEX and in SLC30A8 found by a recent whole-genome association study...
  10. pmc A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
    Laura J Scott
    Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Science 316:1341-5. 2007
    ..region of chromosome 11p12, contribute to the identification of T2D-associated variants near the genes IGF2BP2 and CDKAL1 and the region of CDKN2A and CDKN2B, and confirm that variants near TCF7L2, SLC30A8, HHEX, FTO, PPARG, and KCNJ11 ..
  11. ncbi Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population
    M Horikoshi
    Department of Metabolic Diseases, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
    Diabetologia 50:2461-6. 2007
    ..expressed homeobox (HHEX), exostoses (multiple) 2 (EXT2), CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B) and insulin-like growth factor 2 mRNA binding ..
  12. ncbi Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population
    Shintaro Omori
    Laboratory for Diabetic Nephropathy, SNP Research Center, RIKEN, 1 7 22 Suehiro cho, Tsurumi ku, Yokohama, Kanagawa 230 0045, Japan
    Diabetes 57:791-5. 2008
    ....
  13. doi Quantitative trait analysis of type 2 diabetes susceptibility loci identified from whole genome association studies in the Insulin Resistance Atherosclerosis Family Study
    Nicholette D Palmer
    Department of Biochemistry, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Diabetes 57:1093-100. 2008
    ....
  14. doi Polymorphisms in the TCF7L2, CDKAL1 and SLC30A8 genes are associated with impaired proinsulin conversion
    K Kirchhoff
    Department of Internal Medicine, Division of Endocrinology, Diabetology, Vascular Medicine, Nephrology and Clinical Chemistry, Eberhard Karls Universitat Tubingen, Otfried Muller Str 10, 72076 Tubingen, Germany
    Diabetologia 51:597-601. 2008
    ..We investigated whether these polymorphisms are also associated with impaired proinsulin to insulin conversion...
  15. doi Single-nucleotide polymorphism rs7754840 of CDKAL1 is associated with impaired insulin secretion in nondiabetic offspring of type 2 diabetic subjects and in a large sample of men with normal glucose tolerance
    Alena Stancakova
    Department of Medicine, University of Kuopio and University Hospital, 70210 Kuopio, Finland
    J Clin Endocrinol Metab 93:1924-30. 2008
    b>CDKAL1 is a recently discovered susceptibility gene for type 2 diabetes.
  16. pmc Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
    Eleftheria Zeggini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 40:638-45. 2008
    ..1 x 10(-9)), ADAMTS9 (P = 1.2 x 10(-8)) and NOTCH2 (P = 4.1 x 10(-8)) gene regions. Our results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D...
  17. doi Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study)
    J K Hertel
    Department of Clinical Medicine, University of Bergen, Bergen, Norway
    Diabetologia 51:971-7. 2008
    ..To get a better estimation of the true risk conferred by these novel loci, we tested a completely unselected population of type 2 diabetes patients from a Norwegian health survey (the HUNT study)...
  18. pmc Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value
    Stephane Cauchi
    CNRS 8090 Institute of Biology, Pasteur Institute, Lille, France
    PLoS ONE 3:e2031. 2008
    ..Our aims were to validate these markers in other European and non-European populations, then to assess their combined effect in a large French study comparing T2D and normal glucose tolerant (NGT) individuals...
  19. pmc Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians
    Maggie C Y Ng
    Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong, China
    Diabetes 57:2226-33. 2008
    ..However, the implications of these genes in Asians are unclear...
  20. doi Replication of genome-wide association studies of type 2 diabetes susceptibility in Japan
    Yukio Horikawa
    Department of Diabetes and Endocrinology, Division of Molecule and Structure, Gifu University School of Medicine, Gifu, Japan
    J Clin Endocrinol Metab 93:3136-41. 2008
    ..and populations of European origin, several groups have recently identified novel type 2 diabetes susceptibility genes, including FTO, SLC30A8, HHEX, CDKAL1, CDKN2B, and IGF2BP2, none of which were in the list of functional candidates.
  21. pmc Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk
    Hana Lango
    Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Diabetes 57:3129-35. 2008
    ..Here, we assess the ability of 18 confirmed type 2 diabetes variants to differentiate between type 2 diabetic case and control subjects...
  22. doi Variants of the PPARG, IGF2BP2, CDKAL1, HHEX, and TCF7L2 genes confer risk of type 2 diabetes independently of BMI in the German KORA studies
    C Herder
    Institute for Clinical Diabetes Research, German Diabetes Centre, Leibniz Centre at Heinrich Heine University Düsseldorf, Dusseldorf, Germany
    Horm Metab Res 40:722-6. 2008
    ..SNPs in the CDKAL1 gene showed the strongest association with type 2 diabetes [range of age and sex-adjusted odds ratios (OR): 1.30-1...
  23. doi Variants of CDKAL1 and IGF2BP2 affect first-phase insulin secretion during hyperglycaemic clamps
    M J Groenewoud
    Department of Molecular Cell Biology, Leiden University Medical Center LUMC, P O Box 9600, 2300 RC, Leiden, The Netherlands
    Diabetologia 51:1659-63. 2008
    ..Genome-wide association studies have recently identified novel type 2 diabetes susceptibility gene regions. We assessed the effects of six of these regions on insulin secretion as determined by a hyperglycaemic clamp...
  24. pmc Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population
    Ying Wu
    Key Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences and Graduate School of the Chinese Academy of Sciences, Shanghai, China
    Diabetes 57:2834-42. 2008
    Genome-wide association studies have identified common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, HHEX/IDE, EXT2, and LOC387761 loci that significantly increase the risk of type 2 diabetes...
  25. doi SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations
    Hiroyuki Unoki
    Laboratory for Endocrinology and Metabolism, Center for Genomic Medicine, RIKEN, Yokohama, Kanagawa 230 0045, Japan
    Nat Genet 40:1098-102. 2008
    ..5 x 10(-3); OR = 1.14, rs2237897, P = 2.4 x 10(-4); OR = 1.22) and Danish populations (additive model: rs2237895, P = 3.7 x 10(-11); OR = 1.24, rs2237897, P = 1.2 x 10(-4); OR = 1.36)...
  26. doi Positive association between variations in CDKAL1 and type 2 diabetes in Han Chinese individuals
    Y Liu
    Diabetologia 51:2134-7. 2008
  27. doi Common type 2 diabetes risk gene variants associate with gestational diabetes
    Jeannet Lauenborg
    Center for Pregnant Women with Diabetes, Department of Obstetrics, Copenhagen University Hospital, Rigshospitalet, DK 2100 Copenhagen, Denmark
    J Clin Endocrinol Metab 94:145-50. 2009
    ..We aimed to examine the association between gestational diabetes mellitus (GDM) and 11 recently identified type 2 diabetes susceptibility loci...
  28. doi Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population
    Y M Cho
    Department of Internal Medicine, College of Medicine, Seoul National University, 28 Yongon dong Chongno gu, Seoul 110 744, Korea
    Diabetologia 52:253-61. 2009
    ..The aim of the present study was to examine the association between these diabetogenic variants and gestational diabetes mellitus (GDM)...
  29. pmc Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians
    Rong Rong
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA
    Diabetes 58:478-88. 2009
    In recent genome-wide association studies, variants in CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, CDKN2B, LOC387761, and FTO were associated with risk for type 2 diabetes in Caucasians...
  30. pmc Genotype score in addition to common risk factors for prediction of type 2 diabetes
    James B Meigs
    General Medicine Division, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    N Engl J Med 359:2208-19. 2008
    ..We tested the hypothesis that knowledge of these loci allows better prediction of risk than knowledge of common phenotypic risk factors alone...
  31. doi Clinical risk factors, DNA variants, and the development of type 2 diabetes
    Valeriya Lyssenko
    Department of Clinical Sciences, Lund University, Malmo, Sweden
    N Engl J Med 359:2220-32. 2008
    ..Type 2 diabetes mellitus is thought to develop from an interaction between environmental and genetic factors. We examined whether clinical or genetic factors or both could predict progression to diabetes in two prospective cohorts...
  32. pmc Replication study of candidate genes associated with type 2 diabetes based on genome-wide screening
    Yasuharu Tabara
    Department of Basic Medical Research and Education, Ehime University Graduate School of Medicine, Toon City, Ehime, Japan
    Diabetes 58:493-8. 2009
    ..A total of 11 previously reported single-nucleotide polymorphisms (SNPs) from the TCF7L2, CDKAL1, HHEX, IGF2BP2, CDKN2A/B, SLC30A8, and KCNJ11 genes were analyzed.
  33. pmc Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data
    Nicholas J Timpson
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Diabetes 58:505-10. 2009
    ..This study examined how differences in the BMI distribution of type 2 diabetic case subjects affected genome-wide patterns of type 2 diabetes association and considered the implications for the etiological heterogeneity of type 2 diabetes...
  34. doi Association between insulin secretion, insulin sensitivity and type 2 diabetes susceptibility variants identified in genome-wide association studies
    Stephanie May Ruchat
    Department of Preventive Medicine, Laval University, Quebec City, QC, Canada
    Acta Diabetol 46:217-26. 2009
    ..We analysed 23 SNPs in 9 T2DM genes (CDKAL1, CDKN2B, HHEX/IDE, IGF2BP2, KCNJ11, SLC30A8, TCF2, TCF7L2 and WFS1) in a maximum of 712 men and women from the ..
  35. doi Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study
    X Lin
    Discovery Analytics, GlaxoSmithKline, Collegeville, PA, USA
    Diabetologia 52:600-8. 2009
    ....
  36. doi The risk allele load accelerates the age-dependent decline in beta cell function
    A Haupt
    Medical Clinic, Department of Internal Medicine IV Diabetology, Endocrinology, Nephrology, Angiology, and Clinical Chemistry, Eberhard Karls University, Otfried Muller Strasse 10, 72076, Tubingen, Germany
    Diabetologia 52:457-62. 2009
    Among the novel type 2 diabetes risk loci identified by genome-wide association studies, TCF7L2, HHEX, SLC30A8 and CDKAL1 appear to affect beta cell function...
  37. doi Interaction between prenatal growth and high-risk genotypes in the development of type 2 diabetes
    N Pulizzi
    Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy
    Diabetologia 52:825-9. 2009
    ..of this study was to investigate whether there is an interaction between birthweight and common variants in the TCF7L2, HHEX, PPARG, KCNJ11, SLC30A8, IGF2BP2, CDKAL1, CDKN2A/2B and JAZF1 genes in the risk of developing type 2 diabetes.
  38. pmc Type 2 diabetes risk alleles are associated with reduced size at birth
    Rachel M Freathy
    Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Diabetes 58:1428-33. 2009
    ..We tested whether common genetic variants that predispose to type 2 diabetes also reduce birth weight...
  39. pmc Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry
    Marilyn C Cornelis
    Harvard School of Public Health, Channing Laboratory, Boston, MA 02115, USA
    Ann Intern Med 150:541-50. 2009
    ..Genome-wide association studies have identified novel type 2 diabetes loci, each of which has a modest impact on risk...
  40. pmc Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men
    Alena Stancakova
    Department of Medicine, University of Kuopio and Kuopio University Hospital, Kuopio, Finland
    Diabetes 58:2129-36. 2009
    ..We investigated the effects of 18 confirmed type 2 diabetes risk single nucleotide polymorphisms (SNPs) on insulin sensitivity, insulin secretion, and conversion of proinsulin to insulin...
  41. doi Differential contribution of CDKAL1 variants to psoriasis, Crohn's disease and type II diabetes
    M Quaranta
    King s College London, Division of Genetics and Molecular Medicine, London, UK
    Genes Immun 10:654-8. 2009
    ..Our group has also documented a significant association between psoriasis and CDKAL1, a gene previously implicated in the pathogenesis of Crohn's disease (CD) and type II diabetes (TIID)...
  42. pmc Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene
    Jianhua Zhao
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Diabetes 58:2414-8. 2009
    ..association has been demonstrated between low birth weight and single nucleotide polymorphisms (SNPs) at the CDKAL1 and HHEX-IDE loci, regions that were previously implicated in the pathogenesis of type 2 diabetes...
  43. doi HHEX-IDE polymorphism is associated with low birth weight in offspring with a family history of type 1 diabetes
    Christiane Winkler
    Institut fuer Diabetesforschung der Forschergruppe Diabetes e V at the Helmholtz Center Munich, 85764 Neuherberg, Germany
    J Clin Endocrinol Metab 94:4113-5. 2009
    ..hypothesis proposes that common genetic variants that reduce insulin secretion also reduce birth weight, and an association of low birth weight and the type 2 diabetes risk alleles at the HHEX-IDE and CDKAL1 loci were recently reported.
  44. doi Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia
    Johan Rung
    McGill University and Genome Quebec Innovation Centre, Montreal, Canada
    Nat Genet 41:1110-5. 2009
    ....
  45. pmc Combined risk allele score of eight type 2 diabetes genes is associated with reduced first-phase glucose-stimulated insulin secretion during hyperglycemic clamps
    Leen M 't Hart
    Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The Netherlands
    Diabetes 59:287-92. 2010
    ..In this study, we have investigated the combined effects of eight known beta-cell loci on insulin secretion stimulated by three different secretagogues during hyperglycemic clamps...
  46. pmc PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population
    Cheng Hu
    Department of Endocrinology and Metabolism, Shanghai Jiao Tong University Affiliated Sixth People s Hospital, Shanghai, China
    PLoS ONE 4:e7643. 2009
    ..In this study, we attempt to analyze the independent and joint effect of variants from these loci on type 2 diabetes and clinical phenotypes related to glucose metabolism...
  47. pmc Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI
    Jianhua Zhao
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Diabetes 59:751-5. 2010
    ..Our goal was to investigate if any type 2 diabetes variants uncovered through genome-wide association studies (GWAS) impact BMI in childhood...
  48. pmc Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study
    Philippa J Talmud
    Centre of Cardiovascular Genetics, Department of Medicine, University College London, London WC1E 6JF
    BMJ 340:b4838. 2010
    ....
  49. pmc Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort
    Jie Wen
    Department of Endocrinology, Shanghai Medical College Fudan University, Shanghai, China
    PLoS ONE 5:e9153. 2010
    ..In the present study, we evaluated the influence of 17 genetic variants from 15 candidate loci, identified in type 2 diabetes GWASs and the metaanalysis, in a Han Chinese cohort...
  50. pmc BMI at age 8 years is influenced by the type 2 diabetes susceptibility genes HHEX-IDE and CDKAL1
    Christiane Winkler
    Institut fuer Diabetes forschung der Forschergruppe Diabetes e V at Helmholtz Center Munich, Neuherberg, Germany
    Diabetes 59:2063-7. 2010
    To determine whether HHEX-IDE and CDKAL1 genes, which are associated with birth weight and susceptibility to type 2 diabetes, continue to influence growth during childhood.
  51. pmc Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population
    Xueyao Han
    Department of Endocrinology and Metabolism, Peking University People s Hospital, Peking University Diabetes Center, no 11, XiZhiMen South Street, Beijing, China
    BMC Med Genet 11:81. 2010
    ..gene association studies have identified many novel genetic loci for type 2 diabetes (T2D); among these genes, CDKAL1, IGF2BP2, SLC30A8, CDKN2A/B, HHEX, FTO, TCF2, KCNQ1, and WFS1 are the most important...
  52. pmc Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population
    Ying Lin
    Center for Human Molecular Biology and Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People s Hospital, Chengdu, Sichuan, China
    BMC Med Genet 11:97. 2010
    ..Nineteen single nucleotide polymorphisms (SNPs) from the eight genes/loci including TCF7L2, HHEX, CDKAL1, SLC30A8, PPARG, IGF2BP2, KCNJ11, and CDKN2A/CDKN2B were genotyped in 1,529 cases and 1,439 controls in a Han ..
  53. doi CDKAL1 and type 2 diabetes: a global meta-analysis
    M A S Dehwah
    Hubei Key Lab of Genetic Regulation and Integrative Biology, College of Life Sciences, Huazhong Normal University, Wuhan, Hubei, China
    Genet Mol Res 9:1109-20. 2010
    b>CDKAL1 (cyckin-dependent kinase 5 regulatory subunit-associated protein 1-like 1) has been shown to be associated with type 2 diabetes in various ethnic groups; however, contradictory results have been reported...
  54. pmc Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia
    Xueling Sim
    Centre for Molecular Epidemiology, National University of Singapore, Singapore, Singapore
    PLoS Genet 7:e1001363. 2011
    ..Of the SNPs associated with T2D in previous GWAS, only variants at CDKAL1 and HHEX/IDE/KIF11 showed the strongest association with T2D in the meta-analysis including all three ethnic ..
  55. doi The carriage of risk variants of CDKAL1 impairs beta-cell function in both diabetic and non-diabetic patients and reduces response to non-sulfonylurea and sulfonylurea agonists of the pancreatic KATP channel
    Dimitry A Chistiakov
    Department of Molecular Diagnostics, National Research Center GosNIIgenetika, Moscow, Russia
    Acta Diabetol 48:227-35. 2011
    ..located in intron 5 of the cyclin-dependent kinase 5 (CDK5) regulatory subunit-associated protein 1-like 1 (CDKAL1) gene were shown to confer susceptibility to type 2 diabetes in multiple ethnic groups...
  56. ncbi Functional loss of Cdkal1, a novel tRNA modification enzyme, causes the development of type 2 diabetes
    Fan Yan Wei
    Department of Molecular Physiology, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan
    Endocr J 58:819-25. 2011
    A number of whole-genome association studies show the cdk5 regulatory associated protein 1-like 1 (cdkal1) gene to be one of the most reproducible risk genes in type 2 diabetes (T2D)...
  57. pmc Association of six single nucleotide polymorphisms with gestational diabetes mellitus in a Chinese population
    Ying Wang
    Key laboratory of Endocrine, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China
    PLoS ONE 6:e26953. 2011
    ..To investigate whether the candidate genes that confer susceptibility to type 2 diabetes mellitus are also correlated with gestational diabetes mellitus (GDM) in pregnant Chinese women...
  58. pmc A genome-wide association study of gestational diabetes mellitus in Korean women
    Soo Heon Kwak
    Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea
    Diabetes 61:531-41. 2012
    ..rs7754840, a variant in CDKAL1, had the strongest association with GDM (odds ratio 1.518; P=6.65×10(-16))...
  59. pmc Meta-analysis identifies common variants associated with body mass index in east Asians
    Wanqing Wen
    Division of Epidemiology, Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
    Nat Genet 44:307-11. 2012
    ..loci (FTO, SEC16B, MC4R, GIPR-QPCTL, ADCY3-DNAJC27, BDNF and MAP2K5) and three novel loci in or near the CDKAL1, PCSK1 and GP2 genes...
  60. pmc Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations
    Yukinori Okada
    Laboratory for Statistical Analysis, Center for Genomic Medicine, RIKEN, Yokohama, Japan
    Nat Genet 44:302-6. 2012
    ..studies with 62,245 east Asian subjects, which identified two new body mass index-associated loci in the CDKAL1 locus at 6p22 (rs2206734, P = 1.4 × 10(-11)) and the KLF9 locus at 9q21 (rs11142387, P = 1...
  61. doi Genetic variants on chromosome 6p21.1 and 6p22.3 are associated with type 2 diabetes risk: a case-control study in Han Chinese
    Feng Lu
    Department of Epidemiology and Biostatistics, MOE Key Laboratory of Modern Toxicology, School of Public Health, Cancer Center, Nanjing Medical University, 140 Hanzhong Road, Nanjing, China
    J Hum Genet 57:320-5. 2012
    ..OpenArray and Sequenom MassARRAY to genotype the four SNPs (rs4712523, rs7756992, rs4712524 and rs6931514) in CDKAL1 (cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1) at 6p22...
  62. pmc CDK5 regulatory subunit-associated protein 1-like 1 (CDKAL1) is a tail-anchored protein in the endoplasmic reticulum (ER) of insulinoma cells
    Silvia Brambillasca
    Molecular Diabetology, Paul Langerhans Institute Dresden, Uniklinikum Carl Gustav Carus, Dresden University of Technology, Fetscherstrasse 74, 01307 Dresden, Germany
    J Biol Chem 287:41808-19. 2012
    ..Among them is Cdkal1, which is associated with reduced β-cell function and insulin release...
  63. pmc Deletion of CDKAL1 affects high-fat diet-induced fat accumulation and glucose-stimulated insulin secretion in mice, indicating relevance to diabetes
    Tadashi Okamura
    Division of Animal Model, Department of Infectious Diseases, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan
    PLoS ONE 7:e49055. 2012
    The CDKAL1 gene is among the best-replicated susceptibility loci for type 2 diabetes, originally identified by genome-wide association studies in humans...
  64. doi Beta cell glucose sensitivity is decreased by 39% in non-diabetic individuals carrying multiple diabetes-risk alleles compared with those with no risk alleles
    L Pascoe
    The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK
    Diabetologia 51:1989-92. 2008
    ..The aim of this study was to test the cumulative effects of diabetes-risk alleles on measures of beta cell function in non-diabetic individuals...
  65. doi Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population
    Yong Ho Lee
    Department of Internal Medicine, Yonsei University College of Medicine, 134 Shinchon dong Seodaemun gu, Seoul 120 752, South Korea
    J Hum Genet 53:991-8. 2008
    ..study was to investigate the association among the polymorphisms of SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1 and KCNQ1 and the risk of T2DM in the Korean population...
  66. doi The inhibitory effect of recent type 2 diabetes risk loci on insulin secretion is modulated by insulin sensitivity
    Axel Haupt
    Medical Clinic, Department of Endocrinology, Metabolism, Nephrology and Angiology, Otfried Muller Strasse 10, 72076 Tubingen, Germany
    J Clin Endocrinol Metab 94:1775-80. 2009
    ..We assessed whether the risk alleles in TCF7L2, CDKAL1, HHEX, SLC30A8, IGF2BP2, CDKN2A/2B, JAZF1, and WFS1 reduce insulin secretion in an additive manner and whether ..
  67. pmc Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study
    S M Ruchat
    Department of Social and Preventive Medicine, PEPS Laval University, 2300 rue de Terrasse, Quebec, QC, Canada G1V 0A6
    Diabetologia 53:679-89. 2010
    ....
  68. pmc Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population
    Fumihiko Takeuchi
    Department of Medical Ecology and Informatics, Research Institute, International Medical Center of Japan, Tokyo, Japan
    Diabetes 58:1690-9. 2009
    ..To identify novel type 2 diabetes gene variants and confirm previously identified ones, a three-staged genome-wide association study was performed in the Japanese population...
  69. doi Association of a cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 (CDKAL1) polymorphism with elevated hemoglobin A₁(c) levels and the prevalence of metabolic syndrome in Japanese men: interaction with dietary energy intake
    Koichi Miyaki
    Department of Neurology, Keio University, Tokyo, Japan
    Am J Epidemiol 172:985-91. 2010
    ..association studies have identified the cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 (CDKAL1) gene as a novel risk factor for type 2 diabetes mellitus...
  70. pmc Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease
    Patrick Danoy
    The University of Queensland Diamantina Institute, Brisbane, Australia
    PLoS Genet 6:e1001195. 2010
    ..2 × 10(-5), or = 0.83 (95% ci:0.76-0.91)), cdkal1 (rs6908425, p = 1.1 × 10(-4), or = 0.82 (95% ci:0.74-0.91)), lrrk2/muc19 (rs11175593, p = 9.9 × 10(-5), or = 1...
  71. doi Dissecting the nutrigenomics, diabetes, and gastrointestinal disease interface: from risk assessment to health intervention
    Lynnette R Ferguson
    The University of Auckland, Auckland, New Zealand
    OMICS 12:237-44. 2008
    ..accelerating our knowledge of the genetics of complex diseases, and have identified seven other key genes in T2DM: CDKAL1, CDK5 regulatory subunit associated protein-like 1; CDKN2, cyclin-dependent kinase inhibitor 2A; FTO, fat mass and ..
  72. ncbi Role of E2F3 expression in modulating cellular proliferation rate in human bladder and prostate cancer cells
    A Y Olsson
    Section of Molecular Carcinogenesis, Institute of Cancer Research, Male Urological Cancer Research Centre, Sutton, Surrey, UK
    Oncogene 26:1028-37. 2007
    ..In contrast, knockdown of CDKAL1/FLJ20342, another proposed oncogene, from this amplicon had no effect...
  73. pmc No association of multiple type 2 diabetes loci with type 1 diabetes
    S M Raj
    Cambridge Institute for Medical Research, University of Cambridge, UK
    Diabetologia 52:2109-16. 2009
    ..11 at a false-positive rate of 0.003...
  74. doi Candidate gene association study conditioning on individual ancestry in patients with type 2 diabetes and metabolic syndrome from Mexico City
    M Cruz
    Unidad de Investigacion Medica en Bioquimica, Hospital de Especialidades, Instituto Mexicano del Seguro Social, CMN Siglo XXI, Mexico, DF, Mexico
    Diabetes Metab Res Rev 26:261-70. 2010
    ..Metabolic syndrome (MS) increases the risk of cardiovascular disease and diabetes. We analysed 14 cases of polymorphisms located in 10 candidate loci, in a sample of patients with T2D and controls from Mexico City...
  75. doi New gene variants alter type 2 diabetes risk predominantly through reduced beta-cell function
    John R B Perry
    Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Curr Opin Clin Nutr Metab Care 11:371-7. 2008
    ..In this study, we focus on explaining the genome-wide approach that has led to most of these discoveries and discuss some of the early insights the new gene loci have provided into the aetiology of type 2 diabetes...
  76. doi Can the genetics of type 1 and type 2 diabetes shed light on the genetics of latent autoimmune diabetes in adults?
    Struan F A Grant
    Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Endocr Rev 31:183-93. 2010
    ..conversely, but similarly, no evidence has been found for the role of the T2D-associated genes IDE/HHEX, SLC30A8, CDKAL1, CDKN2A/B, IGF2BP2, FTO, and TCF7L2 in T1D...
  77. pmc Association between type 2 diabetes loci and measures of fatness
    Slavica Pecioska
    Department of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    PLoS ONE 5:e8541. 2010
    ..Our aim was to evaluate whether the recently identified T2D risk alleles are associated with human measures of fatness as characterized with Dual Energy X-ray Absorptiometry (DEXA)...
  78. pmc Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 Indians
    Ganesh Chauhan
    Functional Genomics Unit, Institute of Genomics and Integrative Biology CSIR, Delhi, India
    Diabetes 59:2068-74. 2010
    Common variants in PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 genes have been shown to be associated with type 2 diabetes in European populations by genome-wide association studies...
  79. doi Replication of recently described type 2 diabetes gene variants in a South Indian population
    Manickam Chidambaram
    Department of Molecular Genetics, Madras Diabetes Research Foundation ICMR Advanced Centre for Genomics of Diabetes, Chennai 603103, India
    Metabolism 59:1760-6. 2010
    ..Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs7020996 (P = .003) of the CDKN2A/B gene, rs7923837 (P = .038) of the HHEX gene, and rs12056034 (P = ...
  80. pmc The longitudinal association of common susceptibility variants for type 2 diabetes and obesity with fasting glucose level and BMI
    Rebecca J Webster
    Centre for Genetic Epidemiology and Biostatistics, University of Western Australia, Crawley, WA, Australia
    BMC Med Genet 11:140. 2010
    ..longitudinal associations of common diabetes-susceptibility variants in the KCNJ11, PPARG, TCF7L2, IGF2BP2, CDKAL1, SLC30A8 and HHEX gene loci, with fasting glucose level; and of an obesity-associated variant in the FTO gene, ..
  81. pmc Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
    Jeffrey C Barrett
    Bioinformatics and Statistical Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Nat Genet 40:955-62. 2008
    ..genome-wide significant evidence for 21 additional loci, including the regions containing STAT3, JAK2, ICOSLG, CDKAL1 and ITLN1...
  82. pmc Finding genetic risk factors of gestational diabetes
    Soo Heon Kwak
    Department of Internal Medicine, Seoul National University Hospital, Seoul 110 744, Korea
    Genomics Inform 10:239-43. 2012
    ..Recently, a genome-wide association study of GDM was performed and reported that genetic variants in CDKAL1 and MTNR1B were associated with GDM at a genome-wide significance level...
  83. pmc Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies
    Joshua P Lewis
    Center for Human Genomics, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA
    Diabetes 57:2220-5. 2008
    ..Our objective was to examine the influence of type 2 diabetes genes identified in whole-genome association studies in a large African American case-control population...
  84. doi Genetic risk profiling and prediction of disease course in Crohn's disease patients
    Liesbet Henckaerts
    Department of Medicine, Gastroenterology Section, Catholic University of Leuven, Leuven, Belgium
    Clin Gastroenterol Hepatol 7:972-980.e2. 2009
    ..We examined the influence of recently discovered CD-associated susceptibility loci on changes in disease behavior and evaluated whether a genetic risk model for disease progression could be generated...
  85. ncbi Differential expression of imprinted genes in normal and IUGR human placentas
    Andreas I Diplas
    Departments of Community and Preventive Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Epigenetics 4:235-40. 2009
    ..five were upregulated (PHLDA2, ILK2, NNAT, CCDC86, PEG10) and four downregulated (PLAGL1, DHCR24, ZNF331, CDKAL1)...
  86. pmc Diabetes genes and prostate cancer in the Atherosclerosis Risk in Communities study
    Tamra E Meyer
    Human Genetics Center and Division of Epidemiology, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA
    Cancer Epidemiol Biomarkers Prev 19:558-65. 2010
    ..study between PrCa and nine T2D single nucleotide polymorphisms from genome-wide association studies of T2D (in CDKAL1, CDKN2A/B, FTO, HHEX, IGF2BP2, KCNJ11, PPARG, SLC30A8, and TCF7L2) and four T2D single nucleotide polymorphisms ..
  87. pmc A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum
    Kyle M Walsh
    Department of Epidemiology and Public Health, Yale University, 60 College Street, New Haven, Connecticut 06520, USA
    Endocr Relat Cancer 18:171-80. 2011
    ..Owing to the rarity of this disease, we believe these results will provide a valuable resource for future work on this serious condition by allowing others to make efficient use of their samples in targeted studies...
  88. pmc Deletion of CDKAL1 affects mitochondrial ATP generation and first-phase insulin exocytosis
    Mica Ohara-Imaizumi
    Department of Biochemistry, Kyorin University School of Medicine, Tokyo, Japan
    PLoS ONE 5:e15553. 2010
    A variant of the CDKAL1 gene was reported to be associated with type 2 diabetes and reduced insulin release in humans; however, the role of CDKAL1 in β cells is largely unknown...
  89. doi Polycystic ovary syndrome is not associated with polymorphisms of the TCF7L2, CDKAL1, HHEX, KCNJ11, FTO and SLC30A8 genes
    Jin Ju Kim
    Department of Obstetrics and Gynaecology, Seoul National University College of Medicine, Seoul, Korea
    Clin Endocrinol (Oxf) 77:439-45. 2012
    ..We examined the potential association between the diabetogenic genes uncovered in the genome-wide association studies and PCOS in Korean women...
  90. doi Individualized therapy for type 2 diabetes: clinical implications of pharmacogenetic data
    Gaia Chiara Mannino
    Department of Medical and Surgical Sciences, University Magna Graecia of Catanzaro, Catanzaro, Italy
    Mol Diagn Ther 16:285-302. 2012
    ..we also review the available evidence on novel genes (CDK5 regulatory subunit associated protein 1-like 1 [CDKAL1], insulin-like growth factor 2 mRNA binding protein 2 [IGF2BP2], potassium voltage-gated channel, KQT-like ..
  91. pmc Heterogeneity in meta-analyses of genome-wide association investigations
    John P A Ioannidis
    Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina, Greece
    PLoS ONE 2:e841. 2007
    ..Between-study heterogeneity is important to document and may point to interesting leads...
  92. ncbi Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease
    N Wolf
    J Med Genet 45:114-6. 2008
    ..More recently, whole-genome association studies have identified two non-MHC disease genes (IL12B and IL23R), both of which also confer susceptibility to Crohn disease (CD)...
  93. pmc Inactivation of the Rb pathway and overexpression of both isoforms of E2F3 are obligate events in bladder tumours with 6p22 amplification
    C D Hurst
    Cancer Research UK Clinical Centre, Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, UK
    Oncogene 27:2716-27. 2008
    E2F3 and CDKAL1 are candidate genes from the 6p22 region frequently amplified in bladder cancer. Expression of E2F3 isoforms (E2F3a and b) and CDKAL1 were examined and modulated in 6p22-amplified bladder cell lines...
  94. pmc Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22
    Yonghong Li
    Celera, Alameda, California 94502, USA
    J Invest Dermatol 129:629-34. 2009
    ..genes in 1,448 psoriasis patients and 1,385 control subjects; 3 SNPs, rs597980 in ADAM33, rs6908425 in CDKAL1 and rs3789604 in PTPN22, were significant with the same risk allele as in prior reports (one-sided P<0...
  95. doi Construction of a prediction model for type 2 diabetes mellitus in the Japanese population based on 11 genes with strong evidence of the association
    Kazuaki Miyake
    Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan
    J Hum Genet 54:236-41. 2009
    ..We then selected 11 genes, KCNQ1, TCF7L2, CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, HHEX, GCKR, HNF1B, KCNJ11 and PPARG, whose associations with diabetes have already ..
  96. pmc Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults
    Ema C Brito
    Genetic Epidemiology and Clinical Research Group, Department of Public Health and Clinical Medicine, Section for Medicine, Umea University Hospital, Umea, Sweden
    Diabetes 58:1411-8. 2009
    ....
  97. pmc Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3
    Anja Ragvin
    Department of Clinical Medicine, University of Bergen, N 5020 Bergen, Norway
    Proc Natl Acad Sci U S A 107:775-80. 2010
    ..with type 2 diabetes and obesity in linkage disequilibrium (LD) blocks encompassing HHEX-IDE and introns of CDKAL1 and FTO [Sladek R, et al. (2007) Nature 445:881-885; Steinthorsdottir V, et al. (2007) Nat...
  98. doi Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight
    E A Andersson
    Hagedorn Research Institute, Niels Steensens Vej 1, Gentofte, Denmark
    Diabetologia 53:1908-16. 2010
    ..We examined associations between 25 confirmed type 2 diabetes risk variants and birthweight in individuals from the Danish Inter99 population and in meta-analyses including Inter99 data and reported studies...
  99. pmc Identification of eukaryotic and prokaryotic methylthiotransferase for biosynthesis of 2-methylthio-N6-threonylcarbamoyladenosine in tRNA
    Simon Arragain
    Institut de Recherches en Technologie et Sciences pour le Vivant IRTSV LCBM, UMR 5249 CEA CNRS UJF, Commissariat a l Energie Atomique Grenoble, 17 Avenue des Martyrs, 38054 Grenoble Cedex 09, France
    J Biol Chem 285:28425-33. 2010
    ..Recently, a variant within the human CDKAL1 gene belonging to the e-MtaB subfamily was shown to predispose for type 2 diabetes...
  100. pmc Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion
    Martin Heni
    Department of Internal Medicine, Division of Endocrinology, Diabetology, Angiology, Nephrology and Clinical Chemistry, Eberhard Karls University Tubingen, Tubingen, Germany
    Diabetes 59:3247-52. 2010
    ..Several single nucleotide polymorphisms (SNPs) in diabetes risk genes reduce glucose- and/or incretin-induced insulin secretion. Here, we investigated interactions between glycemia and such diabetes risk polymorphisms...
  101. pmc Genome-wide association scan allowing for epistasis in type 2 diabetes
    Jordana T Bell
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Ann Hum Genet 75:10-9. 2011
    ..always contained rs11196205 in TCF7L2 paired with 79 variants including confirmed variants in FTO, TSPAN8, and CDKAL1, which are associated in the absence of epistasis...

Research Grants11

  1. ALEXANDER BANKS; Fiscal Year: 2014
    ..Furthermore, we will examine whether a diabetes susceptibility gene, Cdkal1, regulates PPAR-gamma S273 phosphorylation and adipocyte gene expression in mouse and human cells...
  2. REGULATION OF HEPATIC INSULIN EXTRACTION
    Kenneth S Polonsky; Fiscal Year: 2013
    ..We propose to study the T2DM-associated genes KCNJ11, TCF7L2, KCNQ1, CDKAL1, IGF2BP2 and SLC30A8 since it appears that diabetes-associated variants in these genes increase T2DM risk by ..
  3. Sonia Caprio; Fiscal Year: 2014
    ..1: A) To examine the relationships between a panel of 16 gene variants (TCF7L2, PPARG, FTO, KCNJ11, NOTCH2, WFS1, CDKAL1, IGF2BP2, SLC30A8, JAZF1, HHEX, CDC123/CAMK1D, WFS1, TSPAN8/LGR5, THADA, ADAMTS9) and measures of beta-cell ..
  4. Joel M Gelfand; Fiscal Year: 2016
    ..Furthermore, psoriasis and diabetes share susceptibility genes (such as CDKAL1)...
  5. HYPERGLYCEMIA AND VASCULAR CELL SIGNALING
    WILLIAM LOWE; Fiscal Year: 2001
    ..Identifying the signaling pathways that mediate the effects of hyperglycemia on vascular cell function is critical to devising means to prevent these changes and their complications, such as atherosclerosis. ..
  6. PDX-1 Expression and Embryonic Stem Cells
    WILLIAM LOWE; Fiscal Year: 2004
    ..Thus, the proposed studies will address novel ways of promoting the differentiation of ES cells into islets with the ultimate goal of enhancing islet cell transplantation. ..
  7. Promoting Islet Transplantation with Synthetic Scaffolds
    WILLIAM LOWE; Fiscal Year: 2004
    ..abstract_text> ..
  8. Diabetes Genes: Maternal Glycemia and Birth Weight
    WILLIAM LOWE; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  9. Replication of GWAS for Maternal Glycemia, Birthweight and their Interaction
    WILLIAM LOWE; Fiscal Year: 2009
    ....
  10. Phenotype-Genotype Interactions and Type 2 Diabetes
    James Meigs; Fiscal Year: 2005
    ..Results will provide a foundation for future laboratory efforts and will increase understanding of phenotype-genotype interactions in diabetes pathogenesis. ..