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Genetics substantially influence GORD

A study of monozygotic and dizygotic twins has demonstrated that genetics substantially contribute to the aetiology of gastro-oesophageal reflux disease (GORD). Indeed, heritability for GORD was estimated to be 50%, and thus, approximately half of the variance in liability to GORD is due to genetic factors.

As a number of families have multiple members with symptomatic, endoscopic, or complicated GORD, and first-degree relatives of patients with GORD are more likely to suffer with GORD symptoms, this study sought to determine whether there was a genetic contribution to the aetiology of GORD. A total of 1960 predominantly female twin pairs (928 monozygotic pairs and 1032 dizygotic) from the St Thomas’ Adult UK Twin Registry who had completed a validated symptom questionnaire were evaluated. GORD was defined as symptoms of heartburn or acid regurgitation occurring at least weekly during the past year.

The prevalence of GORD among both groups of twins was 18%. Monozygotic twins were more likely to be concordant for GORD symptoms than dizygotic twins. As genetic factors are more likely to affect both of a pair of monozygotic twins than both of a pair of dizygotic twins, the increased concordance implies a significant genetic contribution to the aetiology of GORD. Increasing age and body mass index made minor contributions to the heritability of GORD.

As predisposition to GORD is due to multiple small genetic effects, it should be possible to locate the genes responsible, and thus, find potential targets for new therapies.

Mohammed I, Cherkas LF, Riley SA, et al. Genetic influences in gastro-oesophageal reflux disease: a twin study. Gut 2003;52:1085-9.

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