The polymorphism is associated with impaired proinsulin conversion and redisposition to type 2 diabetes.
Research and publications:
17786212 Heterogeneity in meta-analyses of genome-wide association investigations
17827400 Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies.
17928989 Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population.
18162508 Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population
18176561 The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm.
18224312 Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment
18224336 Haplotypic analysis of Wellcome Trust Case Control Consortium data.
18264689 Polymorphisms in the TCF7L2, CDKAL1 and SLC30A8 genes are associated with impaired proinsulin conversion
18368387 Strong association of common variants in the CDKN2A/CDKN2B region with type 2 diabetes in French Europids.
18423522 Estimating odds ratios in genome scans: an approximate conditional likelihood approach
18426861 Association analysis of type 2 diabetes Loci in type 1 diabetes
18437351 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)
18443202 Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies
18461161 Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value
18469204 Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians
18477659 Replication of genome-wide association studies of type 2 diabetes susceptibility in Japan.
18533027 Worldwide population differentiation at disease-associated SNPs
18544707 Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program.
18565990 Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence
18591388 Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk
18598350 Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk
18633108 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.
18689899 Exchangeable models of complex inherited diseases
18694974 Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study
18782870 Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008
18991055 Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population.
19002430 Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population
19008344 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
19019192 Association of genetic variation on chromosome 9p21.3 and arterial stiffness.
19020323 Genotype score in addition to common risk factors for prediction of type 2 diabetes
19033397 Replication study of candidate genes associated with type 2 diabetes based on genome-wide screening.
19033589 Interaction between poor glycemic control and 9p21 locus on risk of coronary artery disease in type 2 diabetes.
19056611 Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data
19096518 A novel association of HK1 with glycated hemoglobin in a nondiabetic population: a genome-wide assessment of 14,618 Women's Genome Health Study participants.
19207020 Meta-analysis in genome-wide association studies
19214202 Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis.
19228808 Type 2 diabetes risk alleles are associated with reduced size at birth.
19258437 Genetic variant in the IGF2BP2 gene may interact with fetal malnutrition to affect glucose metabolism.
19279076 Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men
19324937 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
19329499 A genetic variant on chromosome 9p21 and incident heart failure in the ARIC study.
19341491 Genome-based prediction of common diseases: methodological considerations for future research
19343170 INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis.
19401414 Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population
19455305 No association of multiple type 2 diabetes loci with type 1 diabetes
19460916 Genetic architecture of type 2 diabetes: recent progress and clinical implications
19463184 Worldwide patterns of haplotype diversity at 9p21.3, a locus associated with type 2 diabetes and coronary heart disease.
19474294 Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
19502414 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
19526209 Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
19578363 New common variants affecting susceptibility to basal cell carcinoma.
19602701 Underlying genetic models of inheritance in established type 2 diabetes associations
19626703 Were genome-wide linkage studies a waste of time? Exploiting candidate regions within genome-wide association studies
19734549 Ranking of genome-wide association scan signals by different measures
19741166 Common genetic determinants of glucose homeostasis in healthy children: the European Youth Heart Study
19741467 Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea.
19750184 Genome-wide association studies for atherosclerotic vascular disease and its risk factors.
19794065 Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes
19808892 Combined risk allele score of eight type 2 diabetes genes is associated with reduced first-phase glucose-stimulated insulin secretion during hyperglycemic clamps
19819472 Common genetic variants on chromosome 9p21 predict perioperative myocardial injury after coronary artery bypass graft surgery.
19862325 PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population
19931040 Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies
19956108 Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1.
19956539 How many genetic variants remain to be discovered?
20017978 Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study
20018066 Epistatic interactions of CDKN2B-TCF7L2 for risk of type 2 diabetes and of CDKN2B-JAZF1 for triglyceride/high-density lipoprotein ratio longitudinal change: evidence from the Framingham Heart Study
20043145 Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study
20043853 Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus
20049090 Association between type 2 diabetes loci and measures of fatness
20075150 Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study
20142250 Diabetes genes and prostate cancer in the Atherosclerosis Risk in Communities study
20144327 A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel
20161033 Personalized pharmacotherapy for Type 2 diabetes mellitus.
20161779 Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort
20203524 Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk
20309761 Genotype-based risk and pharmacogenetic sampling in clinical trials.
20362271 Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record.
20386740 Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.
20403154 Common genetic variants on chromosome 9p21 are associated with myocardial infarction and type 2 diabetes in an Italian population.
20424228 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.
20435227 Clinical assessment incorporating a personal genome.
20509872 Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population.
20532014 The epidemiology of diabetes in Korea: from the economics to genetics.
20550665 Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.
20605023 Association of an allele on chromosome 9 and abdominal aortic aneurysm.
20712903 Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study
20802253 Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion
20805105 Synthetic associations in the context of genome-wide association scan signals
20816152 Obesity and diabetes genetic variants associated with gestational weight gain.
20858905 Association of single nucleotide polymorphisms on chromosome 9p21.3 with platelet reactivity: a potential mechanism for increased vascular disease.
20862305 Identification of new genetic risk variants for type 2 diabetes.
20870969 Genetic predisposition to long-term nondiabetic deteriorations in glucose homeostasis: Ten-year follow-up of the GLACIER study
20886378 Physiologic characterization of type 2 diabetes-related loci
20923989 Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls.
20980412 Impact of positive family history and genetic risk variants on the incidence of diabetes: the Finnish Diabetes Prevention Study
21084393 Type 2 diabetes (T2D) associated polymorphisms regulate expression of adjacent transcripts in transformed lymphocytes, adipose, and muscle from Caucasian and African-American subjects.
21091714 The genetics of type 2 diabetes: what have we learned from GWAS?
21103332 Combined effects of 19 common variations on type 2 diabetes in Chinese: results from two community-based studies
21124985 Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus.
21146954 Genes and abdominal aortic aneurysm
