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Celiac Disease in Brazilian First-Degree Relatives: The Odds are Five Times Greater for HLA DQ2 Homozygous.
Journal of Pediatric Gastroenterology and Nutrition 2018 December 28
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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