In collaboration with Regeneron Pharmaceuticals, Inc. -- a biopharmaceutical company based in Tarrytown, New York -- researchers performed whole-transcriptome shotgun sequencing of 12 patients with active celiac disease, 15 celiac patients in remission with no intestinal damage, and 15 individuals without celiac disease. By analyzing participants' transcriptome -- the total sum of transcribed RNA sequences -- researchers discovered which genes were expressed and which genes were not expressed to determine genetic signatures linked to celiac disease.
"We know that celiac disease is a multifactorial disease with about 57 genes associated with this autoimmune condition. By performing RNA sequencing, we have uncovered additional genetic 'signatures' and moved closer to identifying targets for future therapeutic agents -- in celiac disease and possibly other autoimmune conditions," says Maureen Leonard, MD, clinical director of the Center for Celiac Research and Treatment at MGHfC, an instructor in Pediatrics at Harvard Medical School and first author of the study.
Results - Differences - Gene - Expressions - Groups
The results showed clear differences in gene expressions among the three groups. Researchers found significant differences in the expression of 945 genes between people with active celiac disease and non-celiac controls; 290 genes between people with celiac disease in remission and the non-celiac group; and 538 genes between the active celiac group and the celiac disease in remission group.
"The identified genes activated three major pathways: innate immunity, gut permeability and differentiation in cell maturation," says Alessio Fasano, MD, director of the Center for Celiac Research and Treatment at MGHfC, a professor of Pediatrics at Harvard Medical School and senior...
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