Risk of Celiac, Autoimmunity High With DR3-DQ2 Haplotype

Findings among those developing disease, autoimmunity in early childhood
Risk of Celiac, Autoimmunity High With DR3-DQ2 Haplotype

WEDNESDAY, July 2, 2014 (HealthDay News) -- There is a high risk for celiac disease autoimmunity and celiac disease early in childhood among those with HLA haplotype DR3-DQ2, according to a study published in the July 3 issue of the New England Journal of Medicine.

Edwin Liu, M.D., from Children's Hospital Colorado in Denver, and colleagues prospectively studied 6,403 children from the United States, Finland, Germany, and Sweden with HLA haplotype DR3-DQ2 or DR4-DQ8 prospectively from birth. Celiac disease autoimmunity was defined as the presence of tissue transglutaminase (tTG) antibodies on two consecutive tests at least three months apart.

The researchers found that, over a median follow-up of 60 months, celiac disease autoimmunity developed in 786 children (12 percent). Confirmed celiac disease was seen in 291 of the 350 children who underwent biopsy, while an additional 21 children who did not undergo biopsy had persistently high levels of tTG antibodies. Among children with a single DR3-DQ2 haplotype, the risks of celiac disease autoimmunity and celiac disease by the age of 5 years were 11 and 3 percent, respectively, and were 26 and 12 percent, respectively, among those with DR3-DQ2 homozygosity. In adjusted models, the hazard ratios for celiac disease autoimmunity were 2.09 among heterozygotes and 5.70 among homozygotes, compared to children who had the lowest-risk genotypes (DR4-DQ8 heterozygotes or homozygotes).

"Children with the HLA haplotype DR3-DQ2, especially homozygotes, were found to be at high risk for celiac disease autoimmunity and celiac disease early in childhood," the authors write.

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