Association of CCK1 Receptor Gene Polymorphisms and Irritable Bowel Syndrome in Korean.
- Author:
Seon Young PARK
1
;
Jong Sun REW
;
Soo Mi LEE
;
Ho Seok KI
;
Kyong Rok LEE
;
Jun Ho CHEO
;
Hyung Il KIM
;
Du Yeong NOH
;
Young Eun JOO
;
Hyun Soo KIM
;
Sung Kyu CHOI
Author Information
1. Division of Gastroenterology, Department of Internal Medicine, Chonnam National University Medical School, Gwangju, Korea. jsrew@chonnam.ac.kr
- Publication Type:Original Article
- Keywords:
Irritable bowel syndromes;
Receptor;
Cholecystokinin;
Polymorphism;
Genetic
- MeSH:
Alleles;
Cholecystokinin;
Exons;
Genetic Variation;
Genotype;
Humans;
Introns;
Irritable Bowel Syndrome;
Neuropeptides;
Polymerase Chain Reaction;
Receptors, Cholecystokinin;
Rome
- From:Journal of Neurogastroenterology and Motility
2010;16(1):71-76
- CountryRepublic of Korea
- Language:English
-
Abstract:
INTRODUCTION: Cholecystokinin (CCK) belongs to a group of endogenous molecules known as brain-gut neuropeptides and functions as a neuropeptide as well as a gut hormone. It remains unclear whether genetic variation of the CCK receptor plays a role in irritable bowel syndrome (IBS). The aim of this study was to determine and compare the allele and genotype frequencies of the CCK1 receptor polymorphisms between healthy controls and patients with IBS. METHODS: Genotyping of 80 patients with IBS (who met the Rome III criteria) and 76 healthy controls was performed. We performed PCR amplification for the CCK1 receptor intron 1 779 T > C and Exon 1 G > A. We confirmed polymorphisms by direct sequencing method. RESULTS: There was a significantly different trend for genotypic distributions of the CCK1 receptor polymorphism between patients with IBS and healthy controls (p for trend = 0.048). The CCK1 receptor intron 1 779 T >C polymorphic type was more common in patients with 'IBS-constipation predominant (IBS-C) and IBS-mixed (IBS-M) forms' (19/31, 61.3%) than healthy controls 32/76, 42.1% adjusted odd ratio 2.43, 95% Confidence interval 1.01-5.86). The genotypic distributions of the CCK1 receptor exon 1 polymorphism were not significantly different between the two groups (p for trend = 0.223). CONCLUSIONS: CCK1 receptor polymorphisms were associated with IBS. In particular, the CCK1 receptor intron 1 779 T > C polymorphic type was associated with 'IBS-C and IBS-M'. Further studies are needed in larger number of patients with an even distribution of IBS subtypes.
