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United European Gastroenterol J. 2015 Oct;3(5):409-18. doi: 10.1177/2050640615576676.

The genetic epidemiology of diverticulosis and diverticular disease: Emerging evidence.

United European gastroenterology journal

Matthias C Reichert, Frank Lammert

Affiliations

  1. Department of Medicine II, Saarland University Medical Center, Homburg, Germany.

PMID: 26535118 PMCID: PMC4625748 DOI: 10.1177/2050640615576676

Abstract

Diverticular disease (DD) is one of the most prevalent gastrointestinal disorders. The pathogenesis of diverticulosis and DD is controversially discussed. Current studies call the traditional concept of a fibre-deficient diet causing the development of diverticula into question. Data from two recent twin studies have provided conclusive evidence for a strong genetic component to diverticulosis. Although genomewide association studies have provided new insights into the polygenic architecture of human diseases, genomic research in diverticulosis and DD has just been started. This is an astonishing fact given the high morbidity and mortality of the disease, as well as the substantial economic burden on health care systems. For this review, we provide an update of the molecular pathobiology and summarise recent evidence supporting the hypothesis that distinct, yet unidentified genetic variants contribute to the development of diverticulosis and DD.

Keywords: Diverticular disease; diverticulosis; genetics; genomewide association studies; personalised medicine; polygenic disease; polymorphism; risk prediction

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