Rs3087243

From SNPedia

The rs3087243 SNP is also known in the literature as the CT60 G>A or the +6230G>A polymorphism, and it is located in the CTLA4 gene.

[PMID 16352685] In Asian (Japanese) populations, the presence of an rs3087243(G) allele represents a 1.3 fold increased risk of autoimmune thyroid disease, and for those with autoimmune thyroid disease, a 1.5 fold increased risk of type-1 diabetes. However, in individuals without autoimmune thyroid disease, no association was seen between this SNP and type-1 diabetes. The authors speculate that earlier studies may have reported associations between this SNP and type-1 diabetes that were actually primarily based on the association with autoimmune thyroid disease.

This same SNP, rs3087243, has also been implicated as a (minor) risk factor for developing rheumatoid arthritis (RA). A study of 2,000+ European RA patients led to a calculated odds ratio of 1.13 (CI: 1.03 - 1.24) for the rs3087243(G) risk allele. [PMID 16380915]

In a study of 395 Spanish patients with lupus, rs3087243(G) allele carriers were calculated to have an odds ratio of 1.71 (CI: 1.18-2.49, p=0.003, p(corr) = 0.006).[PMID 15248219]

In a different study involving recipients of liver transplants, although also with Spanish patients, the rs3087243(G) allele was significantly associated with acute rejection (odds ratio 1.49, p(corr)=0.038). Patients who lacked this allele had the lowest risk of acute rejection development. Allograft survival data did not show statistical differences between genotypes.[PMID 18047932]

[PMID 18940880] rs2292399 and rs2903692 both significantly associated with type 1 diabetes odds ratio 1.37 and 1.28. A joint analysis revealed that rs3087243, rs2292399, and rs2903692, but not INS rs689, were significant risk factors for the cooccurrence of AITD

[PMID 19300490] An African Ancestry-Specific Allele of CTLA4 Confers Protection against Rheumatoid Arthritis in African Americans.

GWAS snp
PMID	[PMID 18978792]
Trait	Type 1 diabetes
Title	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci
Risk Allele	A
P-val	8E-11
Odds Ratio	NR NR

GWAS snp
PMID	[PMID 19430480]
Trait	Type 1 diabetes
Title	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes
Risk Allele
P-val	1E-15
Odds Ratio	NR NR

[PMID 19506323] The Onset of Diabetes in Three out of Four Sisters: A Japanese Family with Type 1 Diabetes. A Case Report

[PMID 19404967] Confirmation of STAT4, IL2/IL21, and CTLA4 polymorphisms in rheumatoid arthritis

[PMID 19895365] Functional polymorphism in CTLA4 gene influences the response to therapy with inhaled corticosteroids in Slovenian children with atopic asthma

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

[PMID 20537165] The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease

GWAS snp
PMID	[PMID 20453842]
Trait	Rheumatoid arthritis
Title	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk lock
Risk Allele	G
P-val	1E-8
Odds Ratio	1.15 [1.10-1.20]

[PMID 20498205] Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers