Prevalence of Celiac Disease in a Long‐term Study of a Spanish At‐genetic‐risk Cohort From the General Population

Abstract

Objectives: To perform long‐term celiac disease (CD) screening in an HLA‐DQ2 (+) cohort from the general population and to assess the influence of risk genotypes on its development. Methods: In 2004, an HLA‐DQ2 (+) cohort was selected. After the first CD screening at age 2 to 3 years, we performed a follow‐up screening 8 to 10 years later. Antitransglutaminase 2 antibodies were determined using a rapid test kit. Results were confirmed by serum IgA antitransglutaminase 2 and IgA endomysial antibody determination. CD diagnosis was carried out by intestinal biopsies. Four HLA‐DQ2 genotypic groups were used: G1: DQ2.5/DQ2.5 (G1A) or DQ2.5/ DQ2.2 (G1B); G2: DQ2.2/DQ7.5 (DQ2.5 trans); G3: DQ2.5/ X; G4: DQ2.2/X. Results: CD prevalence after 10 years of follow‐up was 5.8% (95% confidence interval 3.8–8.7). One of every 3 HLA‐DQ2(+) children carried at least 1 haplotype DQ2.2 or DQ7. The homozygous genotype DQ2.5/DQ2.5 and the HLA‐DQ2.5 trans genotype increased CD risk 4‐ and 3‐fold, respectively. The homozygous genotype DQ2.5/ DQ2.2 did not increase the CD risk. Children carrying G1 or G2 genotypes were diagnosed with CD earlier and more frequently during the follow‐up compare with those carrying G3 or G4 genotypes. Approximately 81% of children with spontaneous antibody negativization after the first screening maintained negative antibodies. Conclusions: A repeated screening of at‐risk children during their follow‐up allowed us to diagnose new CD cases. In our cohort, HLA‐ DQ2.5 trans genotype conferred a higher risk in the development of CD than HLA‐ DQ2.5/DQ2.2. The majority of children with potential CD and CD autoimmunity at 10 years of age remained healthy.