Because of the heterogeneity in symptoms and diagnostic findings, patients with irritable bowel syndrome (IBS) remain a challenge to treat and to study. This difficulty stems from lack of understanding of the pathophysiology of this disorder. Environmental factors likely play an important role in the pathogenesis and clinical manifestations of IBS. Several recent studies suggest a genetic basis for IBS, either in etiology or predicting response to therapy. Because of interest in studying the genetic contributors to this and other functional gastrointestinal disorders, we review the literature on genetic risk factors that might explain the familial clustering of IBS. Familial aggregation studies and twin studies suggest a modest contribution of genetics to the development of IBS. Pharmacogenomic and association studies provide stronger, although far from conclusive, evidence for genetic variants that affect expression of IBS. Together, these studies suggest that a multidisciplinary approach with clinical and psychological tools, epidemiologic methods, and genetic techniques might help elucidate the molecular components leading to the common symptoms of IBS and result in better treatments for those with IBS.
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