Rs763361

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dbSNPrs763361
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SNP Nexus

GeneCD226
Chromosome18
Orientationplus
Position65682621
GenotypeEffect
rs763361(C;C)normal
rs763361(C;T)somewhat increased risk for multiple autoimmune diseases
rs763361(T;T)somewhat increased risk for multiple autoimmune diseases


Genotypes Magnitude Summary
Rs763361(C;C) 00 normal
Rs763361(C;T) somewhat increased risk for multiple autoimmune diseases
Rs763361(T;T) somewhat increased risk for multiple autoimmune diseases
rs763361, also known as Gly307Ser, is a SNP in the immune response CD226 gene. The rs763361(T) allele (in dbSNP orientation) encodes the Ser.

Based on multiple studies (by one group) now totaling over 2,000 patients, the rs763361(T) allele is associated with increased risk for multiple autoimmune diseases, including type-1 diabetes (p = 3 x 10e-9), multiple sclerosis (p = 4 x 10e-4), and possibly rheumatoid arthritis (p = 0.017). Based on tag SNP analysis, the authors conclude that this SNP could be the causal variant.[PMID 18971939]

[PMID 18987646] Tested in a large multiple sclerosis data set consisting of 2369 trio families, 5737 cases and 10 296 unrelated controls, SNP rs763361 was associated with disease risk (p = 5.4 x 10e-8)

? (C;C) (C;T) (T;T)
GWAS
SNP rs763361
PubMedID [PMID 17554260]
Condition Type 1 diabetes
Gene CD226
Risk Allele A
pValue 1.00E-008
OR 1.16
95% CI 1.10-1.22


[PMID 19624611] The CD226 gene in susceptibility of type 1 diabetes

PharmGKBPA162356634
Name
AnnotationGWAS Results: Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes (Initial Sample Size: 1,963 cases, 2,938 controls; Replication Sample Size: 4,000 cases, 5,000 controls, 2,997 trios; Risk Allele: rs763361-A).
GeneCD226
Featue
EvidencePubMed ID:17554260; Web Resource:http://www.genome.gov/gwastudies/
Drugs
DiseasesDiabetes Mellitus, Diabetes Mellitus, Type 1
Curation LevelNon-Curated


[PMID 19951419] Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis