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Gene Variants Linked to Refractory Celiac Disease

MYO9B gene variant linked to severe form of celiac disease

THURSDAY, Dec. 27 (HealthDay News) -- The presence of a MYO9B gene variant may be a risk factor for refractory celiac disease type II (RCD II), a severe form of the disease that carries a high risk of enteropathy-associated T-cell lymphoma (EATL), according to an article published in Clinical Gastroenterology & Hepatology in December.

Victorien M. Wolters, M.D., of University Medical Centre in Utrecht, the Netherlands, and colleagues performed genotyping of MYO9B and molecular typing of HLA-DQ2, a haplotype also associated with RCD II. Subjects included 62 patients with RCD II and EATL, 421 patients with uncomplicated celiac disease, and 1,624 controls.

A single nucleotide polymorphism in MYO9B was significantly more frequent in patients with RCD II and EATL (11 percent) compared to those with uncomplicated celiac disease (3 percent) and controls (2 percent). Both HLA-DQ2 homozygosity and the MYO9B gene variants increased the risk for RCD II and EATL, but there appeared to be no interaction between the risk factors.

"Finding genetic markers that could predict predisposition to RCD II among the celiac disease population is of great interest; the subgroup of celiac disease patients identified with a high risk for RCD II could undergo regular endoscopy with the aim of detecting T-cell lymphoma at an early stage and providing early treatment," the authors conclude.

This research was partially funded by Astra Zeneca The Netherlands.

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