From SNPedia
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
| ? | (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
