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Primary role of the HLA class II DRB1*0301 allele in graves disease

✍ Scribed by Zamani, Mahdi ;Spaepen, Marijke ;Bex, Marie ;Bouillon, Roger ;Cassiman, Jean-Jacques

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 86 KB
Volume: 95
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20001218)95:5<432::aid-ajmg5>3.0.co;2-7

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✦ Synopsis

The association of the Graves disease (GD) with HLA DR3 and DQA1*0501 in Caucasians has been described previously. From these studies it could not be determined whether one specific locus was primarily involved. Using a case-control study design, we have examined the role of HLA class II gene polymorphisms in the predisposition for GD in a group of Belgian subjects. We demonstrated that both DRB1*0301 and DQA1*0501 alleles conferred significant susceptibility in the DRB1*0301-DQA1*0501 haplotype. The DRB1*0301 allele was the primary susceptibility allele for GD, however, because the susceptibility provided by DQA1*0501 was most likely due to it being in linkage disequilibrium with DRB1*0301. The DRB1*0701/x and DQA1*0201/x genotypes and the DRB1*0701-DQA1*0201 haplotype provided protection with an equal RR of 0.29. Predictive value calculations showed that testing for DRB1*0301 gave the highest positive predictive value for GD in females and males. This was, however, 10 times higher in females and predicted a 3.63% risk for a random female to develop GD. Am. J. Med. Genet. 95:432-437, 2000.

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