Lack of Association Between a Polymorphism of Human Thyrotropin Receptor Gene and Autoimmune Thyroid Disease
THONGKUM SUNTHORNTHEPV ARAKUL, M.D.*,
SUPUNNEE NGOWNGARMRATANA, M.D.*,
CHAICHAN DEEROCHANAWONG, M.D.*,
SUGUNYA PHONGVIRATCHAI, B.Sc.*
SUREERAT KITVITA Y ASAK, B.Sc. *,
PATTRAPORN KONTHONG, B.N.*,
VEERASAK SARINNAPAKORN, M.D.*,
Affiliation : * Department of Medicine, Rajavithi Hospital, Department of Medical Services, Ministry of Public Health, Bangkok
10400, Thailand.
AbstractA polymorphism in codon 52 of the human thyrotropin receptor results in a proline to
threonine substitution in the extracellular domain of the receptor, but the association with
autoimmune thyroid disease has been uncertain and there is no report the prevalence of this poly-
morphism in Orientals. To investigate this polymorphism and the association with autoimmune
thyroid disease, we studied 113 normal unrelated individuals, 142 autoimmune thyroid disease
patients including 112 Graves' disease and 30 Hashimoto's thyroiditis in the Thai population. We
screened genomic DNAs of these subjects for the presence of A253 by PCR amplification using
a degenerate oligonucleotide primer which produces a Tth111 I restriction site only in the pre-
sence of A253. The variant allele was present in 5.3 per cent of normal and 3.5 per cent of auto-
immune thyroid disease, 2.7 per cent of Graves' disease and 6.7 per cent of Hashimoto's thyroiditis.
The allele distribution in autoimmune thyroid disease patients did not differ significantly from
that observed in controls. No association was found between this TSH-R polymorphism and the
occurrence of autoimmune thyroid disease.
Keywords : TSH-R Gene, Polymorphism, Autoimmune Thyroid Disease
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