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Division of Endocrinology and Metabolism, Department of Medicine (Y.T., G.B., T.F.D.) and Department of Psychiatry (M.K., D.A.G.), Mount Sinai School of Medicine, New York, New York
Abstract
The autoimmune thyroid diseases (AITD), encompassing Graves’ disease
(GD) and Hashimoto’s thyroiditis (HT), occur in genetically
susceptible individuals. In order to identify the AITD susceptibility
genes, we have studied DNA markers in the regions of 8 candidate genes:
(1) the HLA region, (2) the TSH-receptor, (3) thyroid peroxidase, (4)
thyroglobulin, (5) IDDM-4, (6) IDDM-5, (7) Immunoglobulin heavy chain
gene and (8) CTLA-4. One hundred and seven subjects from 19 informative
families were studied, 14 subjects had GD and 32 subjects had HT. LOD
scores were maximized assuming both dominant and recessive modes of
inheritance. No linkage was found for any marker in patients with HT.
In patients with GD, negative LOD scores were obtained for all the
candidate genes, except for markers in the TSH receptor region on
chromosome 14q31. Positive LOD scores were found for several markers on
14q31. Marker D14S81 gave the highest score (Z max = 2.05; 
=
0.01) assuming a dominant mode of inheritance and a penetrance of 0.8.
These data confirm our previous observations of a lack of a necessary
disease locus for AITD in the HLA gene region. Further, the data
suggest the presence of an important susceptibility gene on 14q31 but
at a considerable distance from the TSH receptor gene.
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