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Association of CCK(1) Receptor Gene Polymorphisms and Irritable Bowel Syndrome in Korean.

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 CCK(1) 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 CCK(1) 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 CCK(1) receptor polymorphism between patients with IBS and healthy controls (p for trend = 0.048). The CCK(1) 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 CCK(1) receptor exon 1 polymorphism were not significantly different between the two groups (p for trend = 0.223). CONCLUSIONS:CCK(1) receptor polymorphisms were associated with IBS. In particular, the CCK(1) 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.

SUBMITTER: Park SY

PROVIDER: S-EPMC2879831 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature

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Association of CCK(1) Receptor Gene Polymorphisms and Irritable Bowel Syndrome in Korean.

Park Seon-Young SY Rew Jong-Sun JS Lee Soo-Mi SM Ki Ho-Seok HS Lee Kyong-Rok KR Cheo Jun-Ho JH Kim Hyung-Il HI Noh Du-Yeong DY Joo Young-Eun YE Kim Hyun-Soo HS Choi Sung-Kyu SK

Journal of neurogastroenterology and motility 20100131 1

<h4>Introduction</h4>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 CCK(1) receptor polymorphisms between healthy controls and patients with IBS.<h4>Methods</h4>Genotyping of 80 patien ...[more]

PMID: 20535329

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Project description:Corticotropin-releasing hormone (CRH) plays an important role in the pathophysiology of irritable bowel syndrome (IBS) and regulates the stress response through two CRH receptors (R1 and R2). Previously, we reported that a CRHR1 gene polymorphism (rs110402, rs242924, and rs7209436) and haplotypes were associated with IBS. However, the association between the CRHR2 gene and IBS was not investigated. We tested the hypothesis that genetic polymorphisms and haplotypes of CRHR2 are associated with IBS pathophysiology and negative emotion in IBS patients.A total of 142 IBS patients and 142 healthy controls participated in this study. Seven single nucleotide polymorphisms (SNPs) of the CRHR2 gene (rs4722999, rs3779250, rs2240403, rs2267710, rs2190242, rs2284217, and rs2284220) were genotyped. Subjects' psychological states were evaluated using the Perceived-Stress Scale, the State-Trait Anxiety Inventory, and the Self-Rating Depression Scale.We found that rs4722999 and rs3779250, located in intronic region, were associated with IBS in terms of genotype frequency (rs4722999: P = 0.037; rs3779250: P = 0.017) and that the distribution of the major allele was significantly different between patients and controls. There was a significant group effect (controls vs. IBS), and a CRHR2 genotype effect was observed for three psychological scores, but the interaction was not significant. We found a haplotype of four SNPs (rs4722999, rs3779250, rs2240403, and rs2267710) and two SNPs (rs2284217 and rs2284220) in strong linkage disequilibrium (D' > 0.90). We also found that haplotypes of the CRHR2 gene were significantly different between IBS patients and controls and that they were associated with negative emotion.Our findings support the hypothesis that genetic polymorphisms and haplotypes of CRHR2 are related to IBS. In addition, we found associations between CRHR2 genotypes and haplotypes and negative emotion in IBS patients and controls. Further studies on IBS and the CRH system are warranted.

Dataset Information

Association of CCK(1) Receptor Gene Polymorphisms and Irritable Bowel Syndrome in Korean.

Publications

Association of CCK(1) Receptor Gene Polymorphisms and Irritable Bowel Syndrome in Korean.

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