Microbiome and Genetic Analysis of Familial IBD

Study Overview
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Brief Summary
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Inflammatory bowel disease(IBD) is a chronic inflammatory condition for gastrointestinal tract. Regarding its pathogenesis, there has been numerous studies to reveal the complex association between genetic and environmental factors. In Korea, the incidence of IBD is growing rapidly but genetic studies solely including patients with Korean descent were not sufficient enough. Therefore, the investigators planned to conduct genetic and fecal microbial analysis for the 60 individuals from 30 Korean IBD families to find out the pathogenesis of IBD.

Detailed Description
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Under the hypothesis that more risk variants will be observed among the familial IBD patient than in IBD patients without any other affected family members, the investigators designed genetic and fecal microbiome analysis for 60 patients form 30 families. After extracting the DNA from blood samples, whole genome sequencing will be performed and data will be comprared with the previously reported variances. Novel variances or incidence of specific variances will be measured. Genome-wide single nucleotide polymorphism array using Immunochip will be performed to search common genetic variants and to calculate genetic risk score of IBD. In this study, fecal microbiome is a surrogate marker for the enviromental aspect of pathogenesis of IBD. The investigators assumed that family members are sharing similar mode of lifestyle therefore we're presumed that their fecal microbial composition is alike. Comparing genetic and microbial datas altogether with the data from unaffected family member(Healthy internal control), investigators expecting to explain the genetic and enviromental aspect of IBD pathogenesis.

Official Title
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Microbiome and Genetic Analysis of Family Members With Inflammatory Bowel Disease

Conditions
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Inflammatory Bowel Diseases

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 60 individuals from 30 families of Crohn's disease or ulcerative colitis. Unaffected 30 individuals from each family as healthy internal control. Exclusion Criteria: Person with history of using antibiotics or probiotics within previous 4 weeks.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Rare genetic variants of inflammatory bowel disease | Results from whole genome sequencing of blood samples of study participants. Planned to compare with the previously reported variances. | Three months after the sample collection | 
| Common genetic variants of inflammatory bowel disease | Results from genome-wide single nucleotide polymorphism array of blood samples of study participants. Planned to compare with the previously reported variances. | Three months after the sample collection | 
| Genetic risk score of inflammatory bowel disease | Results from genome-wide single nucleotide polymorphism array of blood samples of study participants. Planned to compare with the previously reported variances. | Three months after the sample collection | 
| Fecal microbiome composition of each study subjects | Microbial diversity measured from 16S RNA sequencing datas of fecal microbiomes. | Three months after the sample collection | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Gastrointestinal Microbiome, Genetics