A study of the human genome led by Cedars-Sinai researchers has now identified genes linked to ulcerative colitis, offering clues as to what causes the condition and potential avenues for new therapies to treat the disease.
The study, published in Nature Genetics, examined genes of nearly 13,000 patients to determine which parts of the genome are linked to ulcerative colitis. The study demonstrated more than 30 regions of the genome are connected to the risk of developing ulcerative colitis.
"This gives us a number of insights into the disease," said Dermot P.B. McGovern, M.D., Ph.D., director of Translational Medicine for the Inflammatory Bowel and Immunobiology Research Institute at Cedars-Sinai Medical Center and primary author of the paper. "An increased understanding of the genetics gives us some insight into what causes ulcerative colitis and will potentially help us identify new therapies for ulcerative colitis."
Understanding the genetics of the disease may also explain why the condition varies so much from patient to patient in severity, symptoms and response to therapies. In turn, said McGovern, this can lead to a more personalized approach to treating ulcerative colitis patients. For example, in addition to more effectively matching currently available medications to patients, the study may help identify entirely new avenues for research, enabling doctors to develop new treatments for ulcerative colitis.
Ulcerative colitis, one of the most common types of Inflammatory Bowel Disease or IBD, is a chronic digestive disorder. An estimated 1.4 million Americans have IBD, and about 30,000 new cases are diagnosed each year. Ulcerative colitis causes inflammation and ulcers in the top layers of the lining of the large intestine. The most common symptoms include abdominal pain, bloody diarrhea and bleeding from the rectum. Patients may also experience fatigue, weight loss and loss of appetite. Ulcerative colitis is a chronic relapsing condition with periods of remission interspersed with flares of disease, although about 10 percent of ulcerative colitis patients have symptoms chronically. Patients with ulcerative colitis can be at increased risk of developing colorectal cancer.
The study was a collaborative effort between the Inflammatory Bowel and Immunobiology Research Institute and The Medical Genetics Institute at Cedars-Sinai Medical Center, the National Institute of Diabetes and Digestive and Kidney Diseases IBD Genetics Consortium, the Genome Institute of Singapore, the Karolinksak Institutet in Sweden, the Swedish National Program for IBD genetics, The Swedish Organisation for Study of Inflammatory Bowel Diseases, and Harvard Medical School.
- McGovern et al. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. Nature Genetics, 2010; DOI: 10.1038/ng.549
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