J Neurogastroenterol Motil  https://doi.org/10.5056/jnm18183
Polymorphisms of the BARX1 and ADAMTS17 locus genes in individuals with gastroesophageal reflux disease
Alexandra Argyrou,1 Evangelia Legaki,1 Christos Koutserimpas,2 Maria Gazouli,1* Ioannis Papaconstantinou,3 George Gkiokas,3 and George Karamanolis4
1Department of Basic Medical Sciences, Laboratory of Biology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece
22nd Department of General Surgery, “Sismanoglio General Hospital of Athens, Athens, Greece
32nd Department of Surgery, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece
4Gastroenterology Unit, 2nd Department of Surgery, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece
Correspondence to: Maria Gazouli, PhD
Department of Basic Medical Sciences, Laboratory of Biology, Medical School, National and Kapodistrian University of Athens, Michalakopoulou 176, 11527 Athens, Greece
Tel: +30-2107462231, Fax: +30-2107462231, E-mail: mgazouli@med.uoa.gr
Received: October 30, 2018; Revised: February 1, 2019; Accepted: April 7, 2019; Published online: May 3, 2019.
© The Korean Society of Neurogastroenterology and Motility. All rights reserved.

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Abstract
Background/Aims
Gastroesophageal reflux disease (GERD) represents a common condition having a substantial impact on the patients’ quality of life, as well as the health system. According to many studies, the BARX1 and ADAMTS17 genes have been suggested as genetic risk loci for the development of GERD and its complications. The purpose of this study is to investigate the potential association between GERD and BARX1 and ADAMTS17 polymorphisms.
Methods
The present is a prospective cohort study of 160 GERD patients and 180 healthy control subjects of Greek origin, examined for BARX1 and ADAMTS17 polymorphisms (rs11789015 and rs4965272) and a potential correlation to GERD.
Results
The rs11789015 AG and GG genotypes were found to be significantly associated with GERD (P = 0.032; OR, 1.65; 95% CI, 1.06-2.57 and P = 0.033; OR, 3.00; 95% CI, 1.15-7.82, respectively), as well as the G allele (P = 0.007; OR, 1.60; 95% CI, 1.14- 2.24). Concerning the rs4965272, only the GG genotype was significantly associated with GERD (P = 0.035; OR, 3.42; 95% CI, 1.06-11.05).
Conclusions
This is a study investigating the potential correlation between 2 BARX1 and ADAMTS17 polymorphisms and the development of GERD, showing a considerable association between both polymorphisms and the disease. This finding suggests that esophageal differentiation or altered regulation on microfibrils in the cell environment could be implicated as possible mechanisms in the pathogenesis of GERD.
Keywords: Gastroesophageal reflux, BARX1, ADAMTS17, Polymorphism, genetic


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