rs179247

A meta-analysis including eight studies (totaling 6,976 cases and 7,089 controls) reports an association between rs179247 (A) with Graves disease (odds ratio 1.4, CI: 1.353-1.495, p<0.001), and the associations were the same under dominant, recessive and co-dominant models. A 2016 study titled "Dissecting the Genetic Susceptibility to Graves' Disease in a Cohort of Patients of Italian Origin" found that Three SNPs in the 3q locus showed a nominal association with Graves' disease: rs13097181 (p = 3.7 × 10−3, OR: 2.0), rs7633131 (p = 7.7 × 10−3, OR: 1.7), and rs6792646 (p = 7.8 × 10−3, OR: 1.5). In addition, they found associations with the TSHR gene at rs179247 (p = 3.94 × 10−6), the CTLA-4 gene at rs231775 (p = 1 × 10−3), and the TG gene at rs2069561 (p = 0.029). No risk alleles were identified; they merely aimed to prioritize genes and SNPs in relation to Graves' disease. In contrast, "Notably, there were no associations with CD40, CD25, and FOXP3." They concluded that "Our findings highlight the importance of ethnic variation in the association of different polymorphisms with GD even within the same candidate gene." . Published 2010. Both rs179247 allele A (P = 1.2×10(-2)-6.2×10(-15), OR = 1.38-1.45) and rs12101255 allele T (P = 1.0×10(-4)-3.68×10(-21), OR = 1.47-1.87) exhibited strong association with GD in all three cohorts. . Published 2009. "28 SNPs revealed association with GD (P < 0.05), with strongest SNP associations at rs179247 (P = 8.90 x 10(-8), OR = 1.53, 95% CI = 1.32-1.78), rs3783948 (P = 6.5 × 10 −5 , OR = 1.52, 95% CI = 1.30–1.78), and rs12101255 (P = 1.95 x 10(-7), OR = 1.55, 95% CI = 1.33-1.81). They also provided "preliminary evidence that the disease-associated genotypes of rs179247 (AA) and rs12101255 (TT) show reduced mRNA expression ratios of flTSHR relative to two alternate TSHR mRNA splice variants."

A;A

see text at rs179247

A;G

see summary at rs179247

G;G

see text at rs179247