| Geno
|
Mag
|
Summary
|
| (C;C)
|
1
|
no increased risk of Graves' disease
|
| (C;T)
|
1.4
|
>1.4 risk for Graves' disease
|
| (T;T)
|
1.4
|
>1.4 risk for Graves' disease
|
[PMID 27231040
] A meta-analysis including eight studies (totaling 6,976 cases and 7,089 controls) reported an association between rs12101255(T) with Graves' disease (odds ratio 1.5, CI: 1.410-1.600, p<0.001), and the associations were the same under dominant, recessive and co-dominant models.
[PMID 21124799] Thyroid Stimulating Hormone Receptor (TSHR) Intron 1 Variants Are Major Risk Factors for Graves' Disease in Three European Caucasian Cohorts. In this 2010 study, 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.
[PMID 19244275] Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Published 2009. "28 SNPs revealed association with GD (P < 0.05), with strongest SNP associations at rs179247 A allele (P = 8.90 x 10(-8), OR = 1.53, 95% CI = 1.32-1.78), rs3783948 G allele (P = 6.5 × 10 −5 , OR = 1.52, 95% CI = 1.30–1.78), and rs12101255 T allele (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" (Abstract).
[PMID 22673349] Association between thyroid stimulating hormone receptor gene intron polymorphisms and autoimmune thyroid disease in a Chinese Han population
] A meta-analysis including eight studies (totaling 6,976 cases and 7,089 controls) reported an association between rs12101255(T) with Graves' disease (odds ratio 1.5, CI: 1.410-1.600, p<0.001), and the associations were the same under dominant, recessive and co-dominant models.
