Autoimmune thyroid disease susceptibility loci in a large Chinese family

• Published in: Clinical endocrinology (Oxford) 2002-01, Vol.56 (1), p.45-51
• Main Authors: Villanueva, R., Tomer, Y., Greenberg, D. A., Mao, C., Concepcion, E. S., Tucci, S., Estilo, G., Davies, T. F.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Biological and medical sciences; China - ethnology; Endocrinopathies; Female; Genetic Linkage; Genetic Predisposition to Disease; Graves Disease - ethnology; Graves Disease - genetics; Humans; Male; Malignant tumors; Medical sciences; Microsatellite Repeats; Middle Aged; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Pedigree; Thyroid. Thyroid axis (diseases); Thyroiditis, Autoimmune - ethnology; Thyroiditis, Autoimmune - genetics; United States
• ISSN: 0300-0664; 1365-2265
• DOI: 10.1046/j0300-0664.2001.01429.x

Summary objectives The autoimmune thyroid diseases (AITDs) comprising Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) are complex genetic diseases, which result from an interaction between predisposing genes and environmental triggers. The aim of our study was to dissect the genetic predisposition to GD and HT in one large Chinese family with multiple members affected with AITD. patients We completed a whole genome screen of a large multiplex Chinese–American family. We enrolled 27 family members from three generations. Eight members were affected with AITD, six had GD and two had HT. design We determined the information limits of the family. Power calculations indicated that the maximum attainable LOD scores were 5·1 assuming dominant inheritance, and 3·4 assuming recessive inheritance. These estimates both assumed 100% penetrance and one gene. Whole genome screening was performed using 400 highly polymorphic and densely spaced microsatellite markers spanning the entire human genome (intermarker distance