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rs179247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.3 >1.3 risk for Graves' disease
(A;G) 1.3 >1.3x risk of Graves' disease
(G;G) 1 no increased risk of Graves' disease
ReferenceGRCh38 38.1/141
Chromosome14
Position80966202
GeneTSHR
is asnp
is mentioned by
dbSNPrs179247
dbSNP (old)rs179247
ClinGenrs179247
ebirs179247
HLIrs179247
Exacrs179247
Varsomers179247
Maprs179247
PheGenIrs179247
Biobankrs179247
1000 genomesrs179247
hgdprs179247
ensemblrs179247
gopubmedrs179247
geneviewrs179247
scholarrs179247
googlers179247
pharmgkbrs179247
gwascentralrs179247
openSNPrs179247
23andMers179247
23andMe allrs179247
SNP Nexus

SNPshotrs179247
SNPdbers179247
MSV3drs179247
GWAS Ctlgrs179247
GMAF0.3806
Max Magnitude1.3
? (A;A) (A;G) (G;G) 28
OMIM275000
Desc
Variant
Relatedalso
[PMID 27231040OA-icon.png] 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.


[PMID 27014188OA-icon.png] 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."


[PMID 21124799OA-icon.png] Thyroid Stimulating Hormone Receptor (TSHR) Intron 1 Variants Are Major Risk Factors for Graves' Disease in Three European Caucasian Cohorts. 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.


[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 (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."


[PMID 22673349] Association between thyroid stimulating hormone receptor gene intron polymorphisms and autoimmune thyroid disease in a Chinese Han population


[PMID 21642385] Association of an SNP with intrathymic transcription of TSHR and Graves' disease: a role for defective thymic tolerance.