S1265 Analysis of Cholecystokinin Type 1 Receptor Gene Polymorphisms in Patients with Irritable Bowel Syndrome

Colucci, Rocchina; Ghisu, Narcisa; Bellini, Massimo; Rossi, Giuseppe; Gambaccini, Dario; Corsano, Elena; Blandizzi, Corrado; Costa, F.; Marchi, Santino; Tacca, M. Del

doi:10.1016/s0016-5085(09)61014-3

Gastroenterology

2009

DOI: 10.1016/s0016-5085(09)61014-3

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S1265 Analysis of Cholecystokinin Type 1 Receptor Gene Polymorphisms in Patients with Irritable Bowel Syndrome

Rocchina Colucci¹,

Narcisa Ghisu²,

Massimo Bellini³

et al.

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The Role of Genetics in IBS

Saito¹

2011

Gastroenterology Clinics of North America

122

102

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IBS is a common disorder that has been shown to aggregate in families, to affect multiple generations, but not in a manner consistent with a major Mendelian effect. Relatives of an individual with IBS are two to three times as likely to have IBS, with both genders being affected. The estimated genetic liability ranges between 1–20%, with heritability estimates ranging between 0–57%. Although the role of childhood events such as nasogastric tube placement, poor nutrition, abuse, and other stressors have been clearly associated with IBS, these factors have not been studied in families and are unlikely to completely explain the clustering of bowel dysfunction observed in family studies. Furthermore, the familial clustering of IBS does not appear to be explained by psychological traits, based on family studies as well as candidate gene studies of functional variants associated with other psychiatric disorders. To date, over a hundred genetic variants in over 60 genes from various pathways have been studied in a number of candidate gene studies with several positive associations reported. These findings suggest that there may be distinct, as well as shared, molecular underpinnings for IBS and its subtypes. Much new and confirmatory work remains to be performed to elucidate the role of specific genetic variants in IBS development, as well as the specific ways the genes and environment interact to result in IBS susceptibility.

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The Role of Genetics in IBS

Saito¹

2011

Gastroenterology Clinics of North America

122

102

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Genetic Approaches to Functional Gastrointestinal Disorders

2010

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Functional gastrointestinal disorders are complex symptom-based disorders without agreed upon biomarkers or pathophysiology. A better understanding of the genetic architecture of these disorders would help to better identify their complex biology and explain the common comorbidity with other disorders of persistent pain, mood, and affect, as well as possibly make it possible to identify subgroups of patients who respond to customized therapies. In contrast to monogenic diseases, polygenic diseases and traits are characterized by the contribution of common variants in a large number of genes, as well as environmental factors, to the vulnerability of an individual. Family and twin studies have clearly established a genetic component in irritable bowel syndrome. Although candidate gene studies have identified a few gene polymorphisms that may be correlated with the syndrome, small sample size, lack of reproducibility in large data sets, and the unreliability of the clinical phenotype require caution when extrapolating to a major role of any of the reported polymorphisms in the pathophysiology of irritable bowel syndrome. Future progress in this area will require better characterization of intermediate phenotypes with large effect size for the clinical phenotype, as well as consideration of gene-gene, environment-gene (epigenetics), and sex-gene interactions, genome-wide association, and whole genome sequencing approaches in large data sets.

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S1265 Analysis of Cholecystokinin Type 1 Receptor Gene Polymorphisms in Patients with Irritable Bowel Syndrome

Cited by 2 publications

References 0 publications

The Role of Genetics in IBS

The Role of Genetics in IBS

Genetic Approaches to Functional Gastrointestinal Disorders

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