rs2268458

This is a regulatory region variant variant in the TSHR gene.

▶

Research that mentions this SNP (1)

▶
Susceptibility influence of a PTPN22 haplotype with thyroid autoimmunity in Koreans
AssociationN=413Hye‐Soon Lee et al.(2011)· Diabetes/Metabolism Research and Reviews

Cross-sectional study of 413 Chinese children investigating the relationship between excessive fluoride exposure (measured by dental fluorosis) and thyroid health, with the moderating role of TSHR rs2268458 and PTPN22 rs3765598 polymorphisms. Children with dental fluorosis showed lower FT4 (p<0.05), lower TGAb levels (p<0.05), reduced thyroid volume (p<0.05), and higher TPOAb levels (p<0.05). In TSHR rs2268458 CC+CT or PTPN22 rs3765598 CC subgroups, dental fluorosis increased risk of thyroid antibody single positive (OR=4.34, 95% CI 1.10-17.10; OR=5.40, 95% CI 1.85-15.81 respectively). In TSHR rs2268458 TT or PTPN22 rs3765598 CC carriers, dental fluorosis was protective against goiter (OR=0.09, 95% CI 0.01-0.67; OR=0.15, 95% CI 0.03-0.67 respectively).

Traits studied:Dental fluorosisFree thyroxine (FT4)GoiterSubclinical hypothyroidismThyroglobulin antibody (TGAb)Thyroid antibody positiveThyroid peroxidase antibody (TPOAb)Thyroid volume
PubMedDOIMetascience Observatory

About TSHR

The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

View all TSHR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…