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rs12101255

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome14
Position80984708
GeneTSHR
is asnp
is mentioned by
dbSNPrs12101255
dbSNP (old)rs12101255
ClinGenrs12101255
ebirs12101255
HLIrs12101255
Exacrs12101255
Varsomers12101255
Maprs12101255
PheGenIrs12101255
Biobankrs12101255
1000 genomesrs12101255
hgdprs12101255
ensemblrs12101255
gopubmedrs12101255
geneviewrs12101255
scholarrs12101255
googlers12101255
pharmgkbrs12101255
gwascentralrs12101255
openSNPrs12101255
23andMers12101255
23andMe allrs12101255
SNP Nexus

SNPshotrs12101255
SNPdbers12101255
MSV3drs12101255
GWAS Ctlgrs12101255
GMAF0.444
Max Magnitude1.4
? (C;C) (C;T) (T;T) 28
OMIM275000
Desc
Variant
Relatedalso
[PMID 27231040OA-icon.png] 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 21124799OA-icon.png] 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