Rs5219

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is mentioned by
dbSNPrs5219
nextbiors5219
hapmaprs5219
1000 genomesrs5219
hgdprs5219
ensemblrs5219
gopubmedrs5219
scholarrs5219
googlers5219
pharmgkbrs5219
gwascentralrs5219
openSNPrs5219
23andMers5219
23andMe allrs5219
SNP Nexus

SNPshotrs5219
SNPdbers5219
MSV3drs5219
GeneKCNJ11
Chromosome11
Orientationplus
Position17409572
ReferenceGRCh37 37.1/131
Max Magnitude2.5
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

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 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


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

OMIM600937
DescPOTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11
Variant
Relatedalso
PharmGKBPA165291915
NameKCNJ11: Lys23Glu
AnnotationRisk or phenotype-associated allele: G allele. Phenotype: Increased levels of fasting plasma glucose (FPG) and postprandial plasma glucose (PPG) (p < 0.05); and post-repaglinide treatment, GA or AA genotype carries had increased levels of FPG, PPG, and glycated hemoglobin (HbA(1c)) compared with patients with the GG genotype (p < 0.05) Study size: 259 type II diabetes cases and 188 healthy controls. Study population/ethnicity: Chinese. Significance metric(s): p < 0.05. Type of association: GN; PD.
GeneKCNJ11
Featue
EvidencePubMed ID:20054294
Drugsrepaglinide
DiseasesDiabetes Mellitus, Type 2
Curation LevelCurated


[PMID 20361036] Gene-gene interactions lead to higher risk for development of type 2 diabetes in an ashkenazi jewish population

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
PharmGKBPA162168098
Name
Annotationrs5219 demonstrated association with Type 2 Diabetes in a GWAS of Finnish and Swedish patients and controls.
GeneKCNJ11
Featue
EvidencePubMed ID:17463246
Drugs
DiseasesDiabetes Mellitus, Type 2
Curation LevelCurated
PharmGKBPA162191363
Name
AnnotationIn a large Finnish case-control GWAS, rs5219 was found to be associated with susceptibility to Type 2 Diabetes.
GeneKCNJ11
Featue
EvidencePubMed ID:17463248
Drugs
DiseasesDiabetes Mellitus, Type 2
Curation LevelCurated
PharmGKBPA164740295
Name
AnnotationGWAS results: Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data. (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls); (Region: 11p15.1; Reported Gene(s): KCNJ11; Risk Allele: rs5219-?); (p-value(obese) = 0.0000005).This variant is associated with Type 2 diabetes.
GeneKCNJ11
Featue
EvidencePubMed ID:19056611; Web Resource:http://www.genome.gov/gwastudies/
Drugs
DiseasesDiabetes Mellitus, Diabetes Mellitus, Type 2
Curation LevelNon-Curated
PharmGKBPA164740299
Name
AnnotationGWAS results: Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data. (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls); (Region: 11p15.1; Reported Gene(s): KCNJ11; Risk Allele: rs5219-?); (p-value(non-obese)= 0.000000001).This variant is associated with Type 2 diabetes.
GeneKCNJ11
Featue
EvidencePubMed ID:19056611; Web Resource:http://www.genome.gov/gwastudies/
Drugs
DiseasesDiabetes Mellitus, Diabetes Mellitus, Type 2
Curation LevelNon-Curated
PharmGKBPA165290948
NameKCNJ11:67A>G, Lys23Glu (E23K)
AnnotationRisk or phenotype-associated allele: G (23Glu) allele. Phenotype: Baseline clinical characteristic (fasting plasma glucose (p < 0.032)), postprandial plasma glucose (p < 0.014) levels) were significantly increased in T2DM patients with the G (23Glu) allele in a comparison of the GG, GA and AA genotypes. Study size: 259. Study population/ethnicity: Chinese type 2 Diabetes (T2DM) patients. Significance metric(s): p < 0.032. Type of association: GN.
GeneKCNJ11
Featue
EvidencePubMed ID:20054294
Drugs
DiseasesDiabetes Mellitus, Type 2
Curation LevelCurated
PharmGKBPA165290949
NameKCNJ11:67A>G, Lys23Glu (E23K)
AnnotationRisk or phenotype-associated allele: GG (23Glu/Glu) genotype. Phenotype: After 8-week repaglinide treatment, levels of fasting plasma glucose, postprandial plasma glucose, and percent HbA(1c) glycated hemoglobin were significantly lower in T2DM patients with the GG (23Glu/Glu) genotype (n = 18) compared to patients with the AA (23Lys/Lys) and AG (23Lys/Glu) genotypes combined (n = 22) (p < 0.036). Study Size: 40. Study population/ethnicity: Chinese type 2 Diabetes (T2DM) patients with uniform genotype with regard to SLCO1B3 (OATP1B1) T521C. Significance metric(s): p < 0.036. Type of association: GN; PD.
GeneKCNJ11
Featue
EvidencePubMed ID:20054294
Drugsrepaglinide
DiseasesDiabetes Mellitus, Type 2
Curation LevelCurated
OMIM600937
Desc
Variant0014
Relatedalso
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