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Genetic Variations Associated With Crohn's Disease Discovered

by Sheela Philomena on March 9, 2012 at 10:34 AM
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 Genetic Variations Associated With Crohn's Disease Discovered

Scientists have identified five genetic variants associated with Crohn's disease in Jewish individuals of Eastern and Central European decent. The results of the study published in PLoS Genetics.

CD causes inflammation of the lining of the digestive tract and can be both painful and debilitating, and sometimes may lead to life-threatening complications. CD is two-to-four times more prevalent among individuals of Ashkenazi Jewish decent compared to non-Jewish Europeans. The study conducted at multiple institutions across the world, including the Feinstein Institute for Medical Research, was an important step toward understanding the genetic reasons for this higher prevalence.

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"This large collaborative study made it possible to define more precisely the genetic contributions to Crohn's disease that are enriched in the Ashkenazi Jewish population, which has carried a higher risk for this disorder." said Peter K. Gregersen, head of the Robert S. Boas Center for Genomics and Human Genetics at the Feinstein Institute. "The study identified genetic regions that hadn't been discovered before, and if additional studies of these regions are conducted there is a chance that biological pathways affecting susceptibility to Crohn's disease could be found and novel treatments could be developed."

About Crohn's Disease (CD)

Crohn's disease (CD) is an inflammatory bowel disease (IBD), which is one of the five most prevalent gastrointestinal disease burdens in the United States, with an overall health care cost of more than $1.7 billion. Each year in the United States, IBD accounts for more than 700,000 physician visits, 100,000 hospitalizations, and disability in 119,000 patients. CD is two-to-four times more prevalent among individuals of Ashkenazi Jewish decent compared to non-Jewish Europeans.
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CD causes inflammation of the lining of the digestive tract, which can lead to abdominal pain, severe diarrhea and malnutrition. CD can be both painful and debilitating, and sometimes may lead to life-threatening complications. There currently is no cure for CD, but available therapies can greatly reduce the signs and symptoms of CD.

About the Study

Seventy-one genetic variants had already been identified in patients who had Crohn's disease (CD) and were of European decent. A collaborative group of investigators, including some from the Feinstein Institute for Medical Research, led by Inga Peter at Mt Sinai School of Medicine took a step further and conducted a genome-wide association study (GWAS) aimed at exploring genetic variation associated with CD in Jewish individuals of Eastern and Central European decent (Ashkenazi Jews). The study was conducted by combining raw genotype data across 10 Ashkenazi Jew cohorts consisting of 907 cases and 2,345 controls in the discovery stage followed up by a replication study in 971 cases and 2,124 controls. The study confirmed 12 of the known variants and identified five novel genetic varation regions not previously found. These five novel genetic regions were mapped to chromosomes 5q21.1, 2p15, 8q21.1, 10q26.3, and 11q12.1.

Source: Eurekalert
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