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HLA Alleles May Help Stratify Celiac Disease Risk

Large-scale study identifies HLA-DQ haplotypes most associated with increased risk

MONDAY, Sept. 14 (HealthDay News) -- In patients at risk for celiac disease, it's possible to stratify risk on the basis of HLA-DQ genotype, according to a study published in the September issue of Clinical Gastroenterology and Hepatology.

Michelle M. Pietzak, M.D., of the University of Southern California Keck School of Medicine in Los Angeles, and colleagues analyzed blood samples from 10,191 subjects who were at risk for celiac disease because of presenting clinical symptoms, an affected family member, or the presence of another condition associated with celiac disease.

The researchers found that eight major genotype groups were associated with anti-endomysial immunoglobulin A positivity, and observed an orderly progression of increased risk ranging from 2.11 percent for DQ8 heterozygotes to 28.28 percent for DQ2.5/DQ2.2+2.5 homozygotes. They also found that the relative risk for anti-endomysial immunoglobulin A positivity of DQ8 homozygous:heterozygous was similar to that of DQ2 homozygous:DQ2.5 heterozygous samples (odds ratio, approximately 4.0 for both).

"This information might further quantify the relationship between the expression of celiac disease-associated heterodimers and the occurrence of celiac disease, aid in characterizing previously indeterminate cases, and potentially avoid intestinal biopsies when used in combination with highly sensitive and specific serology," the authors conclude. "Targeting these high-risk alleles might aid the design of peptide immunotherapeutic strategies to augment the gluten-free diet."

The study was supported by Prometheus Laboratories Inc.; all of the study authors are employees of or consultants for the company.

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