Rs5219

From SNPedia

Jump to: navigation, search
is asnp
is mentioned by
dbSNPrs5219
hapmaprs5219
hgdprs5219
ensemblrs5219
gopubmedrs5219
scholarrs5219
googlers5219
pharmgkbrs5219
hgvbaseg2prs5219
medrefsnprs5219
23andMers5219
SNP Nexus

GeneKCNJ11
Chromosome11
Orientationplus
Position17366147
GenotypeEffect
rs5219(C;C)normal
rs5219(C;T)1.3x increased risk for type-2 diabetes
rs5219(T;T)2.5x increased risk for type-2 diabetes


Genotypes Magnitude Summary
Rs5219(C;C) 00 normal
Rs5219(C;T) 1.51.5 1.3x increased risk for type-2 diabetes
Rs5219(T;T) 2.52.5 2.5x increased risk for type-2 diabetes

rs5219, also known as E23K, is a SNP in the KCJN11 gene.

The association between type-1 diabetes and rs5219 is mentioned as being replicated in [PMID 17554300]; 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
? (C;T)


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 19258437] A Genetic Variant in the IGF2BP2 Gene may Interact with Fetal Malnutrition on Glucose Metabolism.

GWAS snp
PMID [PMID 19056611]
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 17463248]
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

Related to POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11 according to omim 600937. See also


PharmGKBPA161145166
NameKCNJ11:E23K
AnnotationMay decrease sensitivity of channel to ATP by altering the charge of the ATP binding region
GeneKCNJ11
Featue
EvidenceWeb Resource:http://www.pharmgkb.org/search/annotatedGene/kcnj11/variant.jsp
Drugs
Diseases
Curation LevelIn-Depth