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Comprehensive Genotyping in Two Homogeneous Graves' Disease Samples Reveals Major and Novel HLA Association Alleles

By Chen Pei-Lung, Fann Cathy Shen-Jang, Chu Chen-Chung, Chang Chien-Ching, Chang Su-Wei, Hsieh Hsin-Yi, Lin Marie, Yang Wei-Shiung and Chang Tien-Chun


Graves' disease (GD) is the leading cause of hyperthyroidism and thyroid eye disease inherited as a complex trait. Although geoepidemiology studies showed relatively higher prevalence of GD in Asians than in Caucasians, previous genetic studies were contradictory concerning whether and/or which human leukocyte antigen (HLA) alleles are associated with GD in Asians. is the major gene of GD in our population and singly accounts for 48.4% of population-attributable risk.These GD-associated alleles we identified in ethnic Chinese Hans, and those identified in other Asian studies, are totally distinct from the known associated alleles in Caucasians. Identification of population-specific association alleles is the critical first step for individualized medicine. Furthermore, comparison between different susceptibility/protective alleles across populations could facilitate generation of novel hypothesis about GD pathophysiology and indicate a new direction for future investigation

Publisher: Public Library of Science
Year: 2011
DOI identifier: 10.1371/journal.pone.0016635
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