Pf. Watson et al., LACK OF ASSOCIATION BETWEEN A POLYMORPHISM IN THE CODING REGION OF THE THYROTROPIN RECEPTOR GENE AND GRAVES-DISEASE, The Journal of clinical endocrinology and metabolism, 80(3), 1995, pp. 1032-1035
Using a combination of polymerase chain reaction amplification, oligon
ucleotide mismatch hybridization, and direct sequencing, we analyzed t
he distribution of a recently described TSH receptor gene polymorphism
in 88 patients with Graves' disease but no clinically apparent eye di
sease, 53 patients with Graves' disease and associated ophthalmopathy,
39 patients with autoimmune hypothyroidism, and 156 control subjects.
No significant difference in the distribution of this polymorphism wa
s found between either group of Graves' patients, the hypothyroid pati
ents, or the control group. These results suggest that this coding reg
ion polymorphism is not associated with the occurrence of Graves' dise
ase or Graves' ophthalmopathy.