{{Rsnum
|rsid=763361
|Gene=CD226
|Chromosome=18
|position=69864406
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4917
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CD226
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 25.0 | 50.9 | 24.1
| HCB | 36.8 | 52.9 | 10.3
| JPT | 27.4 | 55.8 | 16.8
| YRI | 3.4 | 45.5 | 51.0
| ASW | 5.3 | 59.6 | 35.1
| CHB | 36.8 | 52.9 | 10.3
| CHD | 39.6 | 50.9 | 9.4
| GIH | 18.8 | 44.6 | 36.6
| LWK | 8.2 | 39.1 | 52.7
| MEX | 26.8 | 44.6 | 28.6
| MKK | 7.7 | 37.2 | 55.1
| TSI | 27.5 | 45.1 | 27.5
| HapMapRevision=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|18971939|OA=1
}}

{{PMID|18987646|OA=1
}} 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)

{{GWAS Summary
|SNP=rs763361
|PubMedID=17554260
|Condition=Type 1 diabetes
|Gene=CD226
|Risk Allele=A
|pValue=1.00E-008
|OR=1.16
|95CI=1.10-1.22
|OA=1
}}

{{PMID Auto
|PMID=19624611
|Title=The CD226 gene in susceptibility of type 1 diabetes
}}

{{PharmGKB
|RSID=rs763361
|Name_s=
|Gene_s=CD226
|Feature=
|Evidence=PubMed ID:17554260; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS 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).
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 1
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356634
}}

{{PMID Auto
|PMID=19951419
|Title=Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
|OA=1
}}

{{PMID Auto
|PMID=20338887
|Title=Non-synonymous variant (Gly307Ser) in CD226 is associated with susceptibility to multiple autoimmune diseases
|OA=1
}}
{{PMID Auto
|PMID=20508602
|Title=The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis
}}
{{PMID Auto
|PMID=20444755
|Title=Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment
|OA=1
}}
{{PMID Auto
|PMID=20669283
|Title=A 3'UTR variant is associated with impaired expression of CD226 in T and NK T cells and susceptibility to systemic lupus erythematosus
}}
{{PMID Auto
|PMID=20887380
|Title=Association of the CD226 single nucleotide polymorphism with systemic lupus erythematosus in the Chinese Han population
}}
{{PMID Auto
|PMID=20952449
|Title=Evaluation of the established non-MHC multiple sclerosis loci in an Indian population
}}

{{PMID Auto
|PMID=21286723
|Title=The CD226 gene in susceptibility of rheumatoid arthritis in the Chinese Han population
}}

{{PMID Auto
|PMID=21521299
|Title=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 Auto
|PMID=22302395
|Title=Influence of MIF, CD40, and CD226 polymorphisms on risk of rheumatoid arthritis
}}

{{PMID Auto GWAS
|PMID=21829393
|Trait=None
|Title=Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
|RiskAllele=C
|Pval=1E-9
|OR=1.1200
|ORtxt=[NR]
|OA=1
}}

{{PMID Auto
|PMID=22531499
|Title=A multicentre study confirms CD226 gene association with Systemic Sclerosis-related pulmonary fibrosis
|OA=1
}}

{{PMID Auto
|PMID=18853133
|Title=Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=19073967
|Title=Shared and distinct genetic variants in type 1 diabetes and celiac disease.
|OA=1
}}

{{PMID Auto
|PMID=19359276
|Title=Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.
|OA=1
}}

{{PMID Auto
|PMID=20072139
|Title=Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis.
|OA=1
}}

{{PMID Auto
|PMID=20089178
|Title=Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.
|OA=1
}}

{{PMID Auto
|PMID=20182566
|Title=The genetic aspects of multiple sclerosis.
|OA=1
}}

{{PMID Auto
|PMID=20236493
|Title=The contribution of genetic variation and infection to the pathogenesis of ANCA-associated systemic vasculitis.
|OA=1
}}

{{PMID Auto
|PMID=20405052
|Title=The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.
|OA=1
}}

{{PMID Auto
|PMID=21162102
|Title=Association of the CD226 Ser(307) variant with systemic sclerosis: evidence of a contribution of costimulation pathways in systemic sclerosis pathogenesis.
}}

{{PMID Auto
|PMID=21765104
|Title=Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interaction.
|OA=1
}}

{{PMID Auto
|PMID=23073294
|Title=CD226 Gly307Ser association with multiple autoimmune diseases: A meta-analysis
}}

{{GET Evidence
|gene=CD226
|aa_change=Ser307Gly
|aa_change_short=S307G
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs763361
|overall_frequency_n=4852
|overall_frequency_d=10758
|overall_frequency=0.451013
|n_genomes=34
|n_genomes_annotated=0
|n_haplomes=48
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|in_gwas=Y
|in_pharmgkb=Y
|nblosum100=2
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23999715
|Title=CD226 rs763361 (Gly307Ser) Polymorphism Is Associated with Susceptibility to Rheumatoid Arthritis in Zahedan, Southeast Iran
|OA=1
}}

{{PMID Auto
|PMID=23922043
|Title=Lack of association between CD226 genetic variants and inflammatory demyelinating diseases in Korean population
}}

{{PMID Auto
|PMID=22728856
|Title=CD226 Gly307Ser association with neuromyelitis optica in Southern Han Chinese.
}}

{{PMID Auto
|PMID=22941566
|Title=Association between the CD226 rs763361 polymorphism and susceptibility to autoimmune diseases: a meta-analysis.
}}

{{PMID Auto
|PMID=23262348
|Title=Association between two genetic variants of CD226 gene and Cervical Squamous Cell Carcinoma: a case-control study.
}}

{{PMID Auto
|PMID=25057181
|Title=CD226 (DNAM-1) is associated with susceptibility to juvenile idiopathic arthritis
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}