Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects

RP Peeters, H van Toor, W Klootwijk… - The Journal of …, 2003 - academic.oup.com
Single nucleotide polymorphisms (SNPs) in genes involved in thyroid hormone metabolism
may affect thyroid hormone bioactivity. We investigated the occurrence and possible effects …

Genetic variation in thyroid hormone pathway genes; polymorphisms in the TSH receptor and the iodothyronine deiodinases

RP Peeters, WM van der Deure… - European journal of …, 2006 - academic.oup.com
Serum thyroid parameters show substantial inter-individual variability, in which genetic
variation is a major factor. Findings in patients with subclinical hyper-and hypothyroidism …

A large-scale association analysis of 68 thyroid hormone pathway genes with serum TSH and FT4 levels

M Medici, WM Van Der Deure… - European journal of …, 2011 - academic.oup.com
Objective Minor variation in serum thyroid hormone (TH) levels can have important effects
on various clinical endpoints. Although 45–65% of the inter-individual variation in serum TH …

A germline single nucleotide polymorphism at the intracellular domain of the human thyrotropin receptor does not have a major effect on the development of Graves' …

Y Ban, DA Greenberg, ES Concepcion, Y Tomer - Thyroid, 2002 - liebertpub.com
Graves' disease (GD) is caused by an interplay of genetic factors and environmental
triggers. The major antigen in GD is the thyrotropin receptor (TSHR) on the surface of the …

Association of the thyroid stimulating hormone receptor gene ( TSHR ) with Graves' disease

OJ Brand, JC Barrett, MJ Simmonds… - Human molecular …, 2009 - academic.oup.com
Graves' disease (GD) is a common autoimmune disease (AID) that shares many of its
susceptibility loci with other AIDs. The thyroid stimulating hormone receptor (TSHR) …

The impact of a TSH receptor gene polymorphism on thyroid‐related phenotypes in a healthy Danish twin population

PS Hansen, WM Van Der Deure… - Clinical …, 2007 - Wiley Online Library
Summary Objectives The Asp727Glu polymorphism in the TSH receptor (TSHR) gene is
associated with serum TSH levels. However, the proportion of genetic variation accounted …

Thyrotropin receptor polymorphisms and thyroid diseases

M Tonacchera, A Pinchera - The Journal of Clinical …, 2000 - academic.oup.com
Mutations arise as a change in the coding sequence of a gene. Point mutations occur when
another replaces one base. Insertions and deletions are the addition and removal of one or …

[HTML][HTML] Genetics of thyroid function and disease

V Panicker - The Clinical Biochemist Reviews, 2011 - ncbi.nlm.nih.gov
Genetics play a prominent role in both determination of thyroid hormone and thyrotropin
(TSH) concentrations, and susceptibility to autoimmune thyroid disease. Heritability studies …

Association of Graves' disease with intragenic polymorphism of the thyrotropin receptor gene in a cohort of Singapore patients of multi-ethnic origins

SC Ho, SS Goh, DH Khoo - Thyroid, 2003 - liebertpub.com
Thyrotropin (TSH) receptor (TSHr) mutations have been investigated in relation to Graves'
disease (GD) genetic susceptibility under the hypothesis that a modified antigen may have …

Novel insights into thyroid hormones from the study of common genetic variation

CM Dayan, V Panicker - Nature Reviews Endocrinology, 2009 - nature.com
Abstract Effects of thyroid hormones in individual tissues are determined by many factors
beyond their serum levels, including local deiodination and expression and activity of thyroid …