GABRA6 genetic polymorphism is associated with the risk of functional heartburn in Chinese.

Background and Aim: Polymorphisms of GABA(A)alpha6 (GABRA6)-1521 and IL-1beta-511 have been linked with susceptibility to stress and gastric acid secretion. The aim of this study was to assess psychiatric profiles and GABRA6 and IL-1beta genotypes in functional heartburn, an important esophageal reflux condition.
Methods: Psychological symptoms were assessed with a Brief Symptom Rating Scale and personality traits with a short-form Maudsley Personality Inventory. DNA from 452 healthy controls, 80 controls with neurosis, and 122 patients with functional heartburn was genotyped with PCR-RFLP technique.
Results: Symptom-scale parameters (except hostility) were significantly higher in patients with functional heartburn than in healthy controls; their neuroticism scores were also higher, but extroversion scores were lower. Distribution of GABRA6 genotypes in patients with functional heartburn showed more heterozygotes than among healthy controls and neurotic subjects, but distributions of IL-1beta genotypes were similar. Multiple logistic regression analysis showed GABRA6 heterozygosity was significantly associated with functional heartburn (odds ratio, 2.37; 95% confidence interval, 1.36-4.12; P < 0.01) even after adjustment for age, sex, Helicobacter pylori infection, General Symptom Index, and score of neuroticism.
Conclusions: Chinese patients with certain psychiatric characteristics and GABRA6 heterozygosity are probably predisposed to functional heartburn, providing insight into this condition's psychopathology and genetics.