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Celiac Disease in Brazilian First-Degree Relatives: The Odds are Five Times Greater for HLA DQ2 Homozygous.

First degree relatives (FDR) of 47 outpatients with celiac disease (CD) answered a questionnaire about symptoms related to CD and were investigated for human leukocyte antigen (HLA)-DQ2, DQB1*02 homozygosis and DQ8 alleles. Genetically susceptible individuals were tested for anti-transglutaminase antibody IgA. Seropositives FDR underwent small bowel biopsies.From 114 FDR, 74.5% (n = 85) were positive for DQ2, DQ8, or both haplotypes. Homozygosity of DQB1*02 was found in 11.4% (n = 13) individuals. Three FDR were previously diagnosed with CD. Among the genetically susceptible individuals, 67.1% had at least one symptom related to CD. Seropositivity was 8/82 (9.8%), and 4/8 biopsies were compatible with CD. Therefore, the total number of FDR with CD was 6,1% (7/114), 95% CI (1.71, 10.49). Three out of seven FDR with CD were HLA DQB1*02 homozygous. The odds of being CD is five times, 95% CI (0.99, 26.23), greater for HLA DQ B1*02 homozygous in FDR.

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