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Celiac Disease in Brazilian First-degree Relatives

The Odds Are Five Times Greater for HLA DQ2 Homozygous

Lopes, Letícia H.C.; Muniz, Janaína G.; Oliveira, Ricardo P.; Sdepanian, Vera L.

Journal of Pediatric Gastroenterology and Nutrition: May 2019 - Volume 68 - Issue 5 - p e77–e80
doi: 10.1097/MPG.0000000000002251
Short Communication: Gastroenterology: Celiac Disease
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ABSTRACT 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: sdepanian@uol.com.br).

Received 19 December, 2018

Accepted 19 December, 2018

The authors report no conflicts of interest.

© 2019 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,