Purpose of review: Recent advances in molecular genetics clearly demonstrate that a patient's susceptibility to developing a common disease is the result of an underlying genetic predisposition. Gastroesophageal reflux disease (GERD) is proving to be no exception. The results of family and twin studies have identified an inherited tendency toward developing the disease, and a locus common to multiple families with severe GERD has been found on 13q14, known as GERD1.
Recent findings: While it is clear that there are several genes that control susceptibility to GERD, recent advances are refining the location of GERD1. Genes associated with syndromic GERD may offer clues as to the nature of nonsyndromic GERD genes, and all cases of the disease may not be due to mutations in genes that follow simple Mendelian laws.
Summary: While the pathology of GERD remains elusive, molecular genetic approaches offer the clearest path to elucidating the underlying mechanisms of the disease. Discovering the genes that control susceptibility to GERD will provide improved diagnostics and suggest new pharmacological agents for improved treatment. Future efforts should focus on identification of these genes, and clinicians with access to large GERD patient populations should collaborate with geneticists to accomplish this task. Mapping studies should be undertaken in populations of patients with infantile-onset and adult-onset GERD. Future epidemiologic and twin studies will be of limited value, unless the studies are designed to deliver more than simply confirmatory evidence that there is a hereditable component to GERD.