No Association between a Thyrotropin Receptor Gene Polymorphism and Graves' Disease in the Female Population

A polymorphism in codon 52 of the human thyrotropin receptor results in a proline to threonine substitution in the extracellular domain of the receptor, and it has been suggested that the rarer, 52_Thr, allele is associated with susceptibility to Graves' disease in the female population. To investigate this association we analyzed the distribution of TSH-R alleles in male (n = 60) and female (n = 120) Graves' patients, and control subjects (male n = 160 and female n = 85), using a PCR amplification and mismatch oligonucleotide hybridization technique. The variant allele was present in 8.3% of patients and 7.3% of control subjects. The frequencies in male and female patients were 6.7 and 9.2% respectively, and the allele distribution did not differ significantly from that observed in controls. No association was found between this TSH-R polymorphism and the occurrence of Graves' disease in the male or female population.