Have questions? Visit https://www.reddit.com/r/SNPedia


From SNPedia

Geno Mag Summary
(C;C) 1 Normal risk for multiple autoimmune diseases
(C;T) 1.5 Slightly increased risk for multiple autoimmune diseases, such as type-1 diabetes
(T;T) 2 Increased risk for multiple autoimmune diseases
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs763361
1000 genomesrs763361
GWAS Ctlgrs763361
Max Magnitude2
? (C;C) (C;T) (T;T) 28

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 18971939OA-icon.png]

[PMID 18987646OA-icon.png] 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)

SNP rs763361
PubMedID [PMID 17554260OA-icon.png]
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

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

[PMID 20338887OA-icon.png] Non-synonymous variant (Gly307Ser) in CD226 is associated with susceptibility to multiple autoimmune diseases

[PMID 20508602] The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis

[PMID 20444755OA-icon.png] Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment

[PMID 20669283] A 3'UTR variant is associated with impaired expression of CD226 in T and NK T cells and susceptibility to systemic lupus erythematosus

[PMID 20887380] Association of the CD226 single nucleotide polymorphism with systemic lupus erythematosus in the Chinese Han population

[PMID 20952449] Evaluation of the established non-MHC multiple sclerosis loci in an Indian population

[PMID 21286723] The CD226 gene in susceptibility of rheumatoid arthritis in the Chinese Han population

[PMID 21521299] The role of a non-synonymous CD226 (DNAX-accessory molecule-1) variant (Gly 307Ser) in isolated Addison's disease and autoimmune polyendocrinopathy type 2 pathogenesis

[PMID 22302395] Influence of MIF, CD40, and CD226 polymorphisms on risk of rheumatoid arthritis

GWAS snp
PMID [PMID 21829393OA-icon.png]
Title Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Risk Allele C
P-val 1E-9
Odds Ratio 1.1200 [NR]

[PMID 22531499OA-icon.png] A multicentre study confirms CD226 gene association with Systemic Sclerosis-related pulmonary fibrosis

[PMID 18853133OA-icon.png] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.

[PMID 19073967OA-icon.png] Shared and distinct genetic variants in type 1 diabetes and celiac disease.

[PMID 19359276OA-icon.png] Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.

[PMID 20072139OA-icon.png] Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis.

[PMID 20089178OA-icon.png] Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.

[PMID 20182566OA-icon.png] The genetic aspects of multiple sclerosis.

[PMID 20236493OA-icon.png] The contribution of genetic variation and infection to the pathogenesis of ANCA-associated systemic vasculitis.

[PMID 20405052OA-icon.png] The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.

[PMID 21162102] Association of the CD226 Ser(307) variant with systemic sclerosis: evidence of a contribution of costimulation pathways in systemic sclerosis pathogenesis.

[PMID 21765104OA-icon.png] Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interaction.

[PMID 23073294] CD226 Gly307Ser association with multiple autoimmune diseases: A meta-analysis

[PMID 23999715OA-icon.png] CD226 rs763361 (Gly307Ser) Polymorphism Is Associated with Susceptibility to Rheumatoid Arthritis in Zahedan, Southeast Iran

[PMID 23922043] Lack of association between CD226 genetic variants and inflammatory demyelinating diseases in Korean population

[PMID 22728856] CD226 Gly307Ser association with neuromyelitis optica in Southern Han Chinese.

[PMID 22941566] Association between the CD226 rs763361 polymorphism and susceptibility to autoimmune diseases: a meta-analysis.

[PMID 23262348] Association between two genetic variants of CD226 gene and Cervical Squamous Cell Carcinoma: a case-control study.

[PMID 25057181] CD226 (DNAM-1) is associated with susceptibility to juvenile idiopathic arthritis

[PMID 25645050] Association between the CTLA-4, CD226, FAS polymorphisms and rheumatoid arthritis susceptibility: A meta-analysis

[PMID 25661663] Association of 32 type 1 diabetes risk loci in Pakistani patients

[PMID 25891570] Evaluation of SNP rs763361 on Gly307Ser gene in multiple sclerosis patients compared to healthy subjects

[PMID 26634488] Association of CD226 polymorphisms with the susceptibility to type 1 diabetes in Chinese children.

[PMID 27440135] Investigation of the genetic overlap between rheumatoid arthritis and psoriatic arthritis in a Greek population.

[PMID 27722794] Gene-gene interaction between CD40 and CD226 gene on systemic lupus erythematosus in the Chinese Han population.

[PMID 30128676] High-resolution melting curve analysis of polymorphisms within CD58, CD226, HLA-G genes and association with multiple sclerosis susceptibility in a subset of Iranian population: a case-control study.