title: A thyroid hormone receptor beta gene polymorphism associated with Graves' disease.
abstract: 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 (EA beta H) intragenic to c-erbA beta, which codes for the thyroid hormone beta 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 EA beta H 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 EA beta H genotypes was significantly different in Graves' patients (P = 0.003), as compared with controls, the homozygous state EA beta H+/EA beta H+ being more frequent in Graves' patients than in all the other groups. We did not find any association between EA beta H 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.
authors: Research Laboratory, IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
authors: V
authors: V
authors: Tassi
authors: L
authors: L
authors: Scarnecchia
authors: A
authors: A
authors: Di Cerbo
authors: M T
authors: MT
authors: Pirro
authors: R
authors: R
authors: Di Paola
authors: A
authors: A
authors: Liuzzi
authors: M
authors: M
authors: Torlontano
authors: M
authors: M
authors: Zingrillo
authors: L
authors: L
authors: D'Aloiso
authors: V
authors: V
authors: De Filippis
mesh_terms: D000328:Adult; D000483:Alleles; D001327:Autoimmune Diseases / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D001483:Base Sequence; D015247:Deoxyribonuclease HindIII; D005787:Gene Frequency; D005838:Genotype; D006111:Graves Disease / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011988:Receptors, Thyroid Hormone / Q000235:genetics; D013959:Thyroid Diseases / Q000453:epidemiology / Q000235:genetics; D013967:Thyroiditis, Autoimmune / Q000453:epidemiology / Q000235:genetics
chemical_list: D011988:Receptors, Thyroid Hormone; D015247:Deoxyribonuclease HindIII