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 i n a proline to threonine substitution in the extracellular domain of t he receptor, and it has been suggested that the rarer, 52(Thr), allele is associated with susceptibility to Graves' disease in the female po pulation. To investigate this association we analyzed the distribution of TSH-R alleles in male (n = 60) and female (n = 120) Graves' patien ts, and control subjects (male it 160 and female n = 85), using a PCR amplification and mismatch oligonucleotide hybridization technique. Th e variant allele was present in 8.3% of patients and 7.3% of control s ubjects. The frequencies in male and female patients were 6.7 and 9.2% respectively, and the allele distribution did not differ significantl y from that observed in controls. No association was found between thi s TSH-R polymorphism and the occurrence of Graves' disease in the male or female population.