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HLA haplotype DR3-DQ2 increased risk for pediatric celiac disease
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Children with HLA haplotype DR3-DQ2, especially homozygotes with two copies, had high risk for celiac disease, and that risk was elevated in Sweden, according to data published in The New England Journal of Medicine.
Daniel Agardh, MD, PhD, department of pediatrics, Skåne University Hospital, Sweden, and colleagues evaluated celiac disease (CD) incidence and CD-autoimmunity in children with HLA haplotype DR3-DQ2 or DR4-DQ8 who were participants in the TEDDY study.
Daniel Agardh
“TEDDY is a longitudinal prospective multicenter study that follows children from birth to 15 years of age at six clinical centers in four different countries using the same study protocol,” Agardh told Healio.com/Gastroenterology. “[Our] study … stratified the risk of celiac disease among children according to their HLA genotype and confirms that HLA-DR3-DQ2/DR3-DQ2 genotype is the major risk factor for early CD.”
The 6,403 children who carried one of four assessed HLA genotypes were screened for CD by testing serum tissue transglutaminase (tTG) antibodies. After a median follow-up of 60 months, at least one positive result was found in 16% of patients, consistent positive results were found in 12%, and 291 of 350 patients who underwent biopsy had confirmed CD.
Cumulative risks for developing CD-autoimmunity by age 5 were 26% in children who were homozygous for DR3-DQ2, 11% in those with DR3-DQ2/DR4-DQ8, 9% in those who were homozygous for DR4-DQ8 and 2% in those with DR4-DQ8/DR8-DQ4 (all P<.001). Similarly, cumulative risk for CD was 11% in those who were homozygous for DR3-DQ2, 3% in those with DR3-DQ2/DR4-DQ8, 3% in those who were homozygous for DR4-DQ8 and less than 1% in those with DR4-DQ8/DR8-DQ4 (all P<.001).
“Other risk factors such as being of female gender and having a first-degree relative were also associated with CD,” Agardh said. “Moreover, Swedish participants were at an increased risk in addition to HLA, pointing to the direction of an interaction between genetic and environmental factors that might lead to pediatric CD.
“This study may guide clinicians who follow CD patients on how HLA and other established risk factors may be used when estimating the risk for developing CD during childhood.”
Disclosure: See the study for a full list of relevant financial disclosures.
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