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SNP information rs5219

Normal allele: CC

The E23K variant of the Kir6.2 gene is associated with impaired serum insulin response and an increased risk of developing type 2 diabetes.

Polymorphism rs5219 is related to topics like this:

Type 2 diabetes is the most prevalent and impactful subtype of diabetes worldwide, affecting around...


Research and publications:

  9867219   Missense mutations in the pancreatic islet beta cell inwardly rectifying K+ channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of Type II diabetes mellitus in Caucasians.

  11318841   Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53).

  11692183   Genetic variability of the SUR1 promoter in relation to beta-cell function and Type II diabetes mellitus.

  12540637   Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.

  12540638   The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes.

  15111507   Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region.

  15579791   Polymorphisms of the SUR1 (ABCC8) and Kir6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes. The Finnish Diabetes Prevention Study.

  15797964   Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes.

  16733889   [Association analysis of 30 type 2 diabetes candidate genes in Chinese Han population].

  16873704   Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects.

  17463246   Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

  17463248   A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants

  17463249   Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes

  17570749   Genetic prediction of future type 2 diabetes

  17786212   Heterogeneity in meta-analyses of genome-wide association investigations

  17903298   Genome-wide association with diabetes-related traits in the Framingham Heart Study

  18162508   Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population

  18224312   Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment

  18282109   Adaptations to climate in candidate genes for common metabolic disorders

  18319073   Using the optimal receiver operating characteristic curve to design a predictive genetic test, exemplified with type 2 diabetes

  18414213   ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

  18423522   Estimating odds ratios in genome scans: an approximate conditional likelihood approach

  18426861   Association analysis of type 2 diabetes Loci in type 1 diabetes

  18498634   The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies

  18591388   Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk

  18678618   Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes

  18689695   Predicting diabetes: clinical, biological, and genetic approaches: data from the Epidemiological Study on the Insulin Resistance Syndrome (DESIR)

  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

  18852197   Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants

  18972257   Comparison of genetic risk in three candidate genes (TCF7L2, PPARG, KCNJ11) with traditional risk factors for type 2 diabetes in a population-based study--the HUNT study

  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

  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.

  19056611   Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data

  19207020   Meta-analysis in genome-wide association studies

  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

  19309528   Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature.

  19323962   Genome-wide association studies in type 2 diabetes

  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

  19341491   Genome-based prediction of common diseases: methodological considerations for future research

  19368707   Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study.

  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

  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

  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

  19685080   KATP channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired exercise stress response.

  19734549   Ranking of genome-wide association scan signals by different measures

  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

  19862325   PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population

  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

  20018041   The effect of multiple genetic variants in predicting the risk of type 2 diabetes

  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

  20079163   Effect of genetic variants in KCNJ11, ABCC8, PPARG and HNF4A loci on the susceptibility of type 2 diabetes in Chinese Han population

  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

  20161779   Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort

  20301620   Permanent Neonatal Diabetes Mellitus.

  20361036   Gene-gene interactions lead to higher risk for development of type 2 diabetes in an Ashkenazi Jewish population.

  20362271   Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record.

  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.

  20682687   Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.

  20712903   Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study

  20805105   Synthetic associations in the context of genome-wide association scan signals

  20839289   Impact of repeated measures and sample selection on genome-wide association studies of fasting glucose

  20865176   Consistent association of type 2 diabetes risk variants found in europeans in diverse racial and ethnic groups.

  20886378   Physiologic characterization of type 2 diabetes-related loci

  20929593   The longitudinal association of common susceptibility variants for type 2 diabetes and obesity with fasting glucose level and BMI.

  20936101   Pharmacogenetics of Anti-Diabetes Drugs.

  20979565   Population structure of Aggarwals of north India as revealed by molecular markers.

  20980412   Impact of positive family history and genetic risk variants on the incidence of diabetes: the Finnish Diabetes Prevention Study

  21091714   The genetics of type 2 diabetes: what have we learned from GWAS?

  21124985   Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus.

  21191145   Polymorphisms associated with type 2 diabetes in familial longevity: The Leiden Longevity Study.

  21278902   Genetic risk profiling for prediction of type 2 diabetes

  21283728   Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease.

  21297524   The 1p13.3 LDL (C)-associated locus shows large effect sizes in young populations.

  21357383   No association of risk variants for diabetes and obesity with breast cancer: the Multiethnic Cohort and PAGE studies.

  21378175   Updated genetic score based on 34 confirmed type 2 diabetes Loci is associated with diabetes incidence and regression to normoglycemia in the diabetes prevention program

  21407270   Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

  21421807   Effects of 34 risk loci for type 2 diabetes or hyperglycemia on lipoprotein subclasses and their composition in 6,580 nondiabetic Finnish men

  21424820   Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

  21444075   Type 2 diabetes susceptibility single-nucleotide polymorphisms are not associated with polycystic ovary syndrome.

  21457499   Inherited destiny? Genetics and gestational diabetes mellitus.

  21467728   Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.

  21573802   Association between KCNJ11 gene polymorphisms and risk of type 2 diabetes mellitus in East Asian populations: a meta-analysis in 42,573 individuals.

  21602532   Type 2 diabetes risk variants and colorectal cancer risk: the Multiethnic Cohort and PAGE studies.

  21750171   No association of type 2 diabetes risk variants and prostate cancer risk: the multiethnic cohort and PAGE.

  21911746   Effects of genetic susceptibility for type 2 diabetes on the evolution of glucose homeostasis traits before and after diabetes diagnosis: data from the D.E.S.I.R. Study.

  22082043   The effect of KCNJ11 polymorphism on the risk of type 2 diabetes: a global meta-analysis based on 49 case-control studies.

  22113416   Single nucleotide polymorphisms in JAZF1 and BCL11A gene are nominally associated with type 2 diabetes in African-American families from the GENNID study

  22125221   Transethnic meta-analysis of genomewide association studies.

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