Premium
Genetic risk factors for perception of symptoms in GERD : an observational cohort study
Author(s) -
Patel A.,
Hasak S.,
Nix B. D.,
Sayuk G. S.,
Newberry R. D.,
Gyawali C. P.
Publication year - 2018
Publication title -
alimentary pharmacology and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.308
H-Index - 177
eISSN - 1365-2036
pISSN - 0269-2813
DOI - 10.1111/apt.14414
Subject(s) - medicine , gerd , single nucleotide polymorphism , anxiety , asymptomatic , cohort , reflux , gastroenterology , depression (economics) , ambulatory , quality of life (healthcare) , disease , genotype , psychiatry , genetics , nursing , macroeconomics , biology , economics , gene
Summary Background Genetic polymorphisms in G‐protein beta‐3 subunit ( GN β3) and beta‐2 adrenergic receptor ( ADRB 2) are associated with pain and gut hypersensitivity, which can overlap with gastroesophageal reflux disease ( GERD ). Aim To evaluate relationships between single nucleotide polymorphisms ( SNP s) within GN β3 and ADRB 2 systems, and reflux symptom burden, GERD phenotypes from ambulatory reflux monitoring, and quality of life. Methods Symptomatic adults undergoing ambulatory reflux testing were recruited and phenotyped based on acid burden and symptom reflux association; major oesophageal motor disorders and prior foregut surgery were exclusions. A comparison asymptomatic control cohort was also identified. Subjects and controls completed questionnaires assessing symptom burden on visual analog scales, short‐form health survey‐36 ( SF ‐36), and Beck Anxiety and Depression Inventories ( BAI and BDI ). Genotyping was performed from saliva samples; 6 SNP s selected from each of the two genes of interest were compared. Results Saliva from 151 study subjects (55.3 ± 1.2 years, 63.6% F) and 60 control subjects (50.9 ± 2.2 years, 66.7%) had sufficient genetic material for genotyping. Study subjects had higher symptom burden, worse total and physical health, and higher anxiety scores compared to controls ( P ≤ .002). Tested SNP s within ADRB 2 were similar between study subjects and controls ( P > .09). Study subjects with recessive alleles in 3 GN β3 SNP s (Rs2301339, Rs5443, and Rs5446) had worse symptom severity ( P = .011), worse mental health ( P = .03), and higher depression scores ( P = .005) despite no associations with GERD phenotypes or reflux metrics. Conclusions Genetic variation within GN β3 predicts oesophageal symptom burden and affect, but not oesophageal acid burden or symptom association with reflux episodes.