Journal of Molecular Endocrinology (1995) 15, 267-272 DOI: 10.1677/jme.0.0150267
© 1995 Society for Endocrinology
A thyroid hormone receptor β gene polymorphism associated with Graves disease
V Tassi,
L Scarnecchia,
A Di Cerbo,
M T Pirro,
R Di Paola,
A Liuzzi,
M Torlontano,
M Zingrillo,
L DAloiso and
V De Filippis
Autoimmune thyroid diseases (AITDs) are clustered in families, but the nature of this clustering is still poorly understood. One possible approach to the identification of genetic factors interacting with the AITDs is the study of the association between polymorphic markers and AITDs themselves. In the present study we have shown an association between an allele of a HindIII restriction fragment length polymorphism (EAβH) intragenic to c-erbAβ, which codes for the thyroid hormone β receptor, and Graves disease. This polymorphism can be detected by PCR followed by digestion with the restriction enzyme HindIII. The allelic frequencies were analysed in a panel of DNAs extracted from a population of individuals affected by thyroid disease and originating from southern Italy. A control group (n=120) from the same area was also analysed. The distribution of EAβH alleles was significantly different (P<0·001) in Graves disease (n=94) but not in autoimmune thyroiditis (n=60), as compared with controls. Also the distribution of the EAβH genotypes was significantly different in Graves patients (P=0·003), as compared with controls, the homozygous state EAβH+/EAβH+ being more frequent in Graves patients than in all the other groups. We did not find any association between EAβH genotypes and clinical parameters in Graves patients, including eye signs, thyroid volume and level of TSH-binding inhibiting immunoglobulins. Our data support the idea that Graves disease is a genetically distinct group within the AITDs.
Copyright © 1995 by the Society for Endocrinology.