Researchers discover 5 genetic variations associated with Crohn's disease in Ashkenazi Jews

MANHASSET, NY – A collaborative group of investigators has joined together to identify five genetic variations associated with Crohn's disease (CD) and Jewish individuals of Eastern and Central European decent, who are also known as Ashkenazi Jews. These findings were published in the March issue of 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.

"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."

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.

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.

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.

Headquartered in Manhasset, NY, The Feinstein Institute for Medical Research is home to international scientific leaders in Parkinson's disease, Alzheimer's disease, psychiatric disorders, rheumatoid arthritis, lupus, sepsis, inflammatory bowel disease, human genetics, leukemia, neuroimmunology, and medicinal chemistry. The Feinstein Institute, part of the North Shore-LIJ Health System, ranks in the top 6th percentile of all National Institutes of Health grants awarded to research centers. For more information: www.feinsteininstitute.org