Volume 7 Supplement 1

Proceedings of the International Conference on Human Genetics and 39th Annual Meeting of Indian Society of Human Genetics

Open Access

Role of cholecystokinin receptor-A gene polymorphism in development of functional dyspepsia

Molecular Cytogenetics20147(Suppl 1):P111

https://doi.org/10.1186/1755-8166-7-S1-P111

Published: 21 January 2014

Background

Functional dyspepsia (FD) is characterized by epigastric pain, burning, early satiety and post-prandial fullness in absence of organic or metabolic causes. Cholecystokinin receptor-A (CCK-AR) is known to modulate satiety signal and delay gastric emptying, which are associated with FD. CCK-AR (rs1800857, T/C) polymorphism is associated with a defective splicing of the primary transcript of CCK-AR mRNA, which may result in the lower expression of the CCK-AR. Therefore, we evaluated the role of genetic polymorphism of CCK-AR gene (rs1800857, T/C) in FD.

Material and methods

237 consecutive patients with FD (Rome III) and 250 healthy controls (HC) were genotyped for CCK-AR gene polymorphism (PCR-RFLP). Patients with FD were sub-classified into epigastric pain syndrome (EPS), post-prandial distress syndrome (PDS) and EPSPDS overlap.

Results

Patients with FD [173 (73%) male, age 38±12-y] were comparable with HC [195 (78%) male, age 37±12-y] with respect to age and gender. 26/237 (11%) had EPS, 55 (23.2%) PDS and 156 (65.8%) EPSPDS overlap. Among 237 patients with FD, CC (variant) genotype of CCK-AR (rs1800857) was infrequent among patients than HC [19 (8%) vs. 46 (18.4%) p=0.001, odds ratio (OR) =0.36, 95% confidence interval (CI) =0.19-0.66]. However, genotypes distribution was comparable among patients with different subtypes of FD (p=0.44).

Conclusions

CC genotype of CCK-AR polymorphism is protective for FD. EPSPDS overlap was common among patients with FD.

Authors’ Affiliations

(1)
Departments of Gastroenterology and Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS)

Copyright

© Singh et al; licensee BioMed Central Ltd. 2014

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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