Rs5219

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Orientationplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 1.5 1.3x increased risk for type-2 diabetes
(T;T) 2.5 2.5x increased risk for type-2 diabetes
ReferenceGRCh38 38.1/141
Chromosome11
Position17388025
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs5219
PheGenIrs5219
nextbiors5219
hapmaprs5219
1000 genomesrs5219
hgdprs5219
ensemblrs5219
gopubmedrs5219
geneviewrs5219
scholarrs5219
googlers5219
pharmgkbrs5219
gwascentralrs5219
openSNPrs5219
23andMers5219
23andMe allrs5219
SNP Nexus

SNPshotrs5219
SNPdbers5219
MSV3drs5219
GMAF0.2741
Max Magnitude2.5
rs5219, also known as E23K, is a SNP in the KCNJ11 gene.

The association between type-1 diabetes and rs5219 is mentioned as being replicated in [PMID 17554300OA-icon.png]; there is also a 90% correlation between rs5219 and rs5215.

This SNP is one of 4 relatively common SNPs reported to represent risk for type-2 diabetes in the DESIR prospective study of 3,877 Caucasian participants. Under an additive model, the odds ratio for the minor (risk) allele (T) is 1.15 (CI: 0.95-1.4, p=0.2, ie not significant). But for the 4 SNPs, each risk allele increased type-2 diabetes risk by 1.34x (p=2x10e-6), with an odds ratio of 2.48 (CI: 1.59-3.86) for carriers of 4 or more compared to those with one or none (risk alleles).[PMID 17977958]

Genotyping of ~4000 Chinese as well a meta-analysis concluded that rs5219 was associated with type-2 diabetes in Chinese Han and East Asian populations, under a recessive model showing an odds ratio of 1.25 (CI: 1.04-1.5, p=0.017).[PMID 19498446]

[PMID 18162508] significantly associated p = 0.0034; in 1,630 Japanese subjects with type-2 diabetes and in 1,064 controls

Neighborrs28936678
Distance373


Venter snp
Source plos
Gene KCNJ11
allele C
frequency
sift TOLERATED
HuRef 1103649619609
Disease Association Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as type II diabetes mellitus.



[PMID 19258437OA-icon.png] A Genetic Variant in the IGF2BP2 Gene may Interact with Fetal Malnutrition on Glucose Metabolism.

GWAS snp
PMID [PMID 19056611OA-icon.png]
Trait Type 2 diabetes
Title Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data
Risk Allele
P-val 5E-7
Odds Ratio 1.19 [1.11-1.27]
GWAS snp
PMID [PMID 17463246]
Trait Type 2 diabetes
Title Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
Risk Allele T
P-val 7.0000000000000004E-11
Odds Ratio 1.14 [1.10-1.19]
GWAS snp
PMID [PMID 17463248OA-icon.png]
Trait Type 2 diabetes
Title A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
Risk Allele T
P-val 7.0000000000000004E-11
Odds Ratio 1.14 [1.10-1.19]

[PMID 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

OMIM600937
DescPOTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11
Variant
Relatedalso
[PMID 20361036OA-icon.png] Gene-gene interactions lead to higher risk for development of type 2 diabetes in an ashkenazi jewish population








OMIM600937
Desc
Variant0014
Relatedalso


ClinVar
Risk rs5219(C;C)
Alt rs5219(C;C)
Reference rs5219(T;T)
Significance Other
Disease Diabetes mellitus type 2 Exercise stress response Permanent neonatal diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Diabetes mellitus type 2 Exercise stress response, impaired, association with Permanent neonatal diabetes mellitus
Reversed 0
HGVS NC_000011.9:g.17409572T>C
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000009214.1, RCV000009215.1, RCV000020356.1,



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


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


[PMID 17570749OA-icon.png] Genetic prediction of future type 2 diabetes.


[PMID 17786212OA-icon.png] Heterogeneity in meta-analyses of genome-wide association investigations.


[PMID 17903298OA-icon.png] Genome-wide association with diabetes-related traits in the Framingham Heart Study.


[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.


[PMID 18282109OA-icon.png] Adaptations to climate in candidate genes for common metabolic disorders.


[PMID 18319073OA-icon.png] Using the optimal receiver operating characteristic curve to design a predictive genetic test, exemplified with type 2 diabetes.


[PMID 18423522OA-icon.png] Estimating odds ratios in genome scans: an approximate conditional likelihood approach.


[PMID 18426861OA-icon.png] Association analysis of type 2 diabetes Loci in type 1 diabetes.


[PMID 18498634OA-icon.png] The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.


[PMID 18591388OA-icon.png] Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.


[PMID 18678618OA-icon.png] Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes.


[PMID 18689695OA-icon.png] Predicting diabetes: clinical, biological, and genetic approaches: data from the Epidemiological Study on the Insulin Resistance Syndrome (DESIR).


[PMID 18689899OA-icon.png] Exchangeable models of complex inherited diseases.


[PMID 18694974OA-icon.png] Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.


[PMID 18782870OA-icon.png] Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008.


[PMID 18852197OA-icon.png] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.


[PMID 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.


[PMID 19020323OA-icon.png] Genotype score in addition to common risk factors for prediction of type 2 diabetes.


[PMID 19033397OA-icon.png] Replication study of candidate genes associated with type 2 diabetes based on genome-wide screening.


[PMID 19207020OA-icon.png] Meta-analysis in genome-wide association studies.


[PMID 19279076OA-icon.png] Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.


[PMID 19309528OA-icon.png] Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature.


[PMID 19323962OA-icon.png] Genome-wide association studies in type 2 diabetes.


[PMID 19324937OA-icon.png] 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.


[PMID 19341491OA-icon.png] Genome-based prediction of common diseases: methodological considerations for future research.


[PMID 19368707OA-icon.png] Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study.


[PMID 19401414OA-icon.png] Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.


[PMID 19455305OA-icon.png] No association of multiple type 2 diabetes loci with type 1 diabetes.


[PMID 19460916OA-icon.png] Genetic architecture of type 2 diabetes: recent progress and clinical implications.


[PMID 19502414OA-icon.png] 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.


[PMID 19602701OA-icon.png] Underlying genetic models of inheritance in established type 2 diabetes associations.


[PMID 19862325OA-icon.png] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.


[PMID 19956539OA-icon.png] How many genetic variants remain to be discovered?


[PMID 20017978OA-icon.png] Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.


[PMID 20018041OA-icon.png] The effect of multiple genetic variants in predicting the risk of type 2 diabetes.


[PMID 20043853OA-icon.png] Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus.


[PMID 20049090OA-icon.png] Association between type 2 diabetes loci and measures of fatness.


[PMID 20075150OA-icon.png] Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.


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


[PMID 20144327OA-icon.png] A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.


[PMID 20161779OA-icon.png] Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.


[PMID 20424228OA-icon.png] 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.


[PMID 20712903OA-icon.png] Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.


[PMID 21278902OA-icon.png] Genetic risk profiling for prediction of type 2 diabetes.


[PMID 21283728OA-icon.png] Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease.


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


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


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


[PMID 22377712] Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.


GET Evidence
KCNJ11-K23E
aa_change Lys23Glu
aa_change_short K23E
impact protective
qualified_impact Low clinical importance, Likely protective
overall_frequency 0.738148
summary This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.



[PMID 23029294OA-icon.png] Meta-analysis of the relationship between common type 2 diabetes risk gene variants with gestational diabetes mellitus


[PMID 23690305] Genetic variants and the risk of gestational diabetes mellitus: a systematic review


[PMID 22749234] Contribution of common variants of ENPP1, IGF2BP2, KCNJ11, MLXIPL, PPARγ, SLC30A8 and TCF7L2 to the risk of type 2 diabetes in Lebanese and Tunisian Arabs


[PMID 23298195] Association study of genetic variants of 17 diabetes-related genes/loci and cardiovascular risk and diabetic nephropathy in the Chinese She population.


[PMID 23458876] ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.


[PMID 23462794OA-icon.png] Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets.


[PMID 23544998OA-icon.png] Association of TRPC1 gene polymorphisms with type 2 diabetes and diabetic nephropathy in Han Chinese population.


[PMID 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.


[PMID 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.


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


[PMID 17463249OA-icon.png] Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.


[PMID 25247988] Population Specific Impact of Genetic Variants in KCNJ11 Gene to Type 2 Diabetes: A Case-Control and Meta-Analysis Study