First-degree relatives (FDRs) 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 antitransglutaminase antibody immunoglobulin A. Seropositive 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 1 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% confidence interval (1.71, 10.49). Three out of 7 FDR with CD were HLA DQB1*02 homozygous. The odds of being CD is 5 times, 95% confidence interval (0.99, 26.23), greater for HLA DQ B1*02 homozygous in FDR.
Division of Pediatric Gastroenterology, Pediatric Department, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.
Address correspondence and reprint requests to Vera L. Sdepanian, MD, PhD, Division of Pediatric Gastroenterology, Pediatric Department, Escola Paulista de Medicina, Universidade Federal de São Paulo, Rua Estado de Israel, 577 Apto 112, CEP 04022-001, São Paulo, Brazil (e-mail: email@example.com).
Received 19 December, 2018
Accepted 19 December, 2018
The authors report no conflicts of interest.