HLA-DQ haplotypes in Spanish and German families with Graves' disease: contribution to DQA1*0501-DQB1*0301 mediated genetic susceptibility from fathers.

HLA-DQ haplotypes in Spanish and German families with Graves' disease: contribution to DQA10501-DQB10301 mediated genetic susceptibility from fathers.

Abstract	Genetic and environmental factors are involved in the pathogenesis of Graves' disease. The human leukocyte antigen (HLA) locus is considered to be one risk factor for Graves' disease but parent of origin effects have not been studied. Therefore, we investigated the transmission of HLA risk haplotypes DQA10501, DQA10501-DQB10201 (DQ2), and DQA10501-DQB10301 (DQ7) in two Graves' disease family-cohorts from Spain and Germany. Altogether 208 trio-families (109 from Spain and 99 from Germany; n = 624 individuals) with Graves' disease were genotyped for HLA-DQ alleles DQA10501 and the haplotypes DQA10501-DQB10201 (DQ2) and DQA10501-DQB10301 (DQ7). Since both family groups-German and Spanish-showed the same pattern of HLA transmission and nontransmission, they were analyzed together. HLA DQA10501 and DQA10501-DQB10201 (DQ2) were significantly overtransmitted from the parents to the affected offspring (204 vs. 131, p = 0.0057, pc = 0.0228 and 109 vs. 55, p = 0.0036, pc = 0.0144, respectively). These haplotypes were preferentially transmitted from fathers and DQA10501-DQB10301 (DQ7) was also more prevalent in fathers (24.0% vs. 17.1%, p = 0.0162, pc = 0.0648). We conclude, that HLA DQA10501 and DQA10501-DQB10201 (DQ2) are strongly associated with Graves' disease in both populations. A parent of origin effect of risk haplotypes can not be excluded at present, warranting further family studies.
Authors	Elizabeth Ramos-Lopez, Mercedes Fernandez-Balsells, Heinrich Kahles, Christian Seidl, Jorge Ferrer, Klaus Badenhoop
Journal	Thyroid : official journal of the American Thyroid Association (Thyroid) Vol. 17 Issue 11 Pg. 1131-5 (Nov 2007) ISSN: 1050-7256 [Print] United States
PMID	17714036 (Publication Type: Journal Article)
Chemical References	HLA-DQ Antigens HLA-DQ alpha-Chains HLA-DQ beta-Chains HLA-DQA1 antigen HLA-DQB1 antigen
Topics	Cohort Studies Fathers Female Genetic Predisposition to Disease (genetics) Germany Graves Disease (genetics, immunology) HLA-DQ Antigens (genetics) HLA-DQ alpha-Chains HLA-DQ beta-Chains Haplotypes Humans Male Spain White People (genetics)

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