A thyroid hormone receptor β gene polymorphism associated with Graves’ disease
| Autor: | Massimo Torlontano, L. D'Aloiso, V. De Filippis, L Scarnecchia, A. Di Cerbo, Vittorio Tassi, Maria Teresa Pirro, R. Di Paola, Antonio Liuzzi, Matteo Zingrillo |
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| Rok vydání: | 1995 |
| Předmět: |
Adult
endocrine system medicine.medical_specialty Genotype endocrine system diseases Graves' disease Molecular Sequence Data Deoxyribonuclease HindIII Biology HindIII Polymerase Chain Reaction Autoimmune Diseases Thyroid hormone receptor beta Autoimmune thyroiditis Endocrinology Gene Frequency Internal medicine medicine Humans Molecular Biology Alleles Receptors Thyroid Hormone Base Sequence Thyroid disease Thyroid Thyroiditis Autoimmune Middle Aged medicine.disease Thyroid Diseases Graves Disease medicine.anatomical_structure Italy Thyroid hormone receptor alpha biology.protein Gene polymorphism Polymorphism Restriction Fragment Length |
| Zdroj: | Journal of Molecular Endocrinology. 15:267-272 |
| ISSN: | 1479-6813 0952-5041 |
| DOI: | 10.1677/jme.0.0150267 |
| Popis: | 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 (Pn=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. |
| Databáze: | OpenAIRE |
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