PMID- 17714036
OWN - NLM
STAT- MEDLINE
DCOM- 20080204
LR  - 20221207
IS  - 1050-7256 (Print)
IS  - 1050-7256 (Linking)
VI  - 17
IP  - 11
DP  - 2007 Nov
TI  - HLA-DQ haplotypes in Spanish and German families with Graves' disease: 
      contribution to DQA1*0501-DQB1*0301 mediated genetic susceptibility from fathers.
PG  - 1131-5
AB  - 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 DQA1*0501, 
      DQA1*0501-DQB1*0201 (DQ2), and DQA1*0501-DQB1*0301 (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 DQA1*0501 and the haplotypes DQA1*0501-DQB1*0201 
      (DQ2) and DQA1*0501-DQB1*0301 (DQ7). Since both family groups-German and 
      Spanish-showed the same pattern of HLA transmission and nontransmission, they 
      were analyzed together. HLA DQA1*0501 and DQA1*0501-DQB1*0201 (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 
      DQA1*0501-DQB1*0301 (DQ7) was also more prevalent in fathers (24.0% vs. 17.1%, p 
      = 0.0162, pc = 0.0648). We conclude, that HLA DQA1*0501 and DQA1*0501-DQB1*0201 
      (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.
FAU - Ramos-Lopez, Elizabeth
AU  - Ramos-Lopez E
AD  - Department of Internal Medicine I, Division of Endocrinology, Diabetes and 
      Metabolism, University Hospital Frankfurt, Theodor-Stern-Kai 7, Frankfurt am 
      Main, Germany.
FAU - Fernandez-Balsells, Mercedes
AU  - Fernandez-Balsells M
FAU - Kahles, Heinrich
AU  - Kahles H
FAU - Seidl, Christian
AU  - Seidl C
FAU - Ferrer, Jorge
AU  - Ferrer J
FAU - Badenhoop, Klaus
AU  - Badenhoop K
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Thyroid
JT  - Thyroid : official journal of the American Thyroid Association
JID - 9104317
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ alpha-Chains)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQA1 antigen)
RN  - 0 (HLA-DQB1 antigen)
SB  - IM
MH  - Cohort Studies
MH  - *Fathers
MH  - Female
MH  - Genetic Predisposition to Disease/*genetics
MH  - Germany
MH  - Graves Disease/*genetics/*immunology
MH  - HLA-DQ Antigens/*genetics
MH  - HLA-DQ alpha-Chains
MH  - HLA-DQ beta-Chains
MH  - *Haplotypes
MH  - Humans
MH  - Male
MH  - Spain
MH  - White People/genetics
EDAT- 2007/08/24 09:00
MHDA- 2008/02/05 09:00
CRDT- 2007/08/24 09:00
PHST- 2007/08/24 09:00 [pubmed]
PHST- 2008/02/05 09:00 [medline]
PHST- 2007/08/24 09:00 [entrez]
AID - 10.1089/thy.2006.0315 [doi]
PST - ppublish
SO  - Thyroid. 2007 Nov;17(11):1131-5. doi: 10.1089/thy.2006.0315.