What is the role of genetics in the pathophysiology of irritable bowel syndrome (IBS)?

Updated: Dec 30, 2019
  • Author: Mohammad F El-Baba, MD; Chief Editor: Carmen Cuffari, MD  more...
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Answer

Several studies suggest that irritable bowel syndrome may have a genetic basis. The genetic theory is based on twin studies as well as familial aggregation of irritable bowel syndrome. Several twin studies have shown a higher concordance rate for irritable bowel syndrome in monozygotic twins than in dizygotic twins. [5, 6, 7, 8] Studies on familial aggregation have found that patients with irritable bowel syndrome are more likely than controls to present positive family history. [9, 10, 11] However, familial and twin aggregation studies cannot exclude the influence of environmental and social learning in the development of irritable bowel syndrome.

In a twin study conducted by Levy et al, the proportion of dizygotic twins with irritable bowel syndrome who have mothers with irritable bowel syndrome was greater than the proportion of dizygotic twins with irritable bowel syndrome who have co-twins with irritable bowel syndrome. The data also revealed that having a mother or a father with irritable bowel syndrome are independent predictors of irritable bowel syndrome status and both are stronger predictors than having a twin with irritable bowel syndrome. [6]

Several investigators have proposed that irritable bowel syndrome may be associated with select gene polymorphisms, including SERT, alpha-adrenergic receptors, interleukin-10, transforming growth factor, tumor necrosis factor-alpha, and sodium channel. However, the data are limited, and studies have failed to identify a specific irritable bowel syndrome gene. [12, 13, 14]


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