Clinical trial NCT03515070: Microbiome and Genetic Analysis of Familial IBD
Official title: Microbiome and Genetic Analysis of Family Members With Inflammatory Bowel Disease
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Inflammatory Bowel Diseases
Keywords: Gastrointestinal Microbiome
Genetics
Lead sponsor: Kyunghee University Medical Center
Sponsor class: OTHER
First posted: 2018-05-03
Enrollment: 25
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The investigators are planned to study family members with IBD(Crohn's disease or ulcerative colitis).

They are all Koreal descent and study candidates are two patients from each 30 families. As a healthy internal control, another family member without IBD history will be also enrolled.

Brief summary: 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: 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.

Eligibility criteria: 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.

Primary outcomes:
measure: Rare genetic variants of inflammatory bowel disease
timeFrame: Three months after the sample collection
measure: Common genetic variants of inflammatory bowel disease
timeFrame: Three months after the sample collection
measure: Genetic risk score of inflammatory bowel disease
timeFrame: Three months after the sample collection
measure: Fecal microbiome composition of each study subjects
timeFrame: Three months after the sample collection
Secondary outcomes:
Other outcomes:
Locations:
city: Seoul
country: Korea, Republic of
facility: Kyung Hee University Medical Center
Study officials:
affiliation: Kyung Hee University Hospital
name: Hyo Jong Kim, M.D. PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Kyung Hee University Hospital
name: Chang Kyun Lee, M.D. PhD
role: PRINCIPAL_INVESTIGATOR
References:
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citation: Thia KT, Loftus EV Jr, Sandborn WJ, Yang SK. An update on the epidemiology of inflammatory bowel disease in Asia. Am J Gastroenterol. 2008 Dec;103(12):3167-82. doi: 10.1111/j.1572-0241.2008.02158.x.
citation: Lashner BA, Evans AA, Kirsner JB, Hanauer SB. Prevalence and incidence of inflammatory bowel disease in family members. Gastroenterology. 1986 Dec;91(6):1396-400. doi: 10.1016/0016-5085(86)90193-9.
citation: Stittrich AB, Ashworth J, Shi M, Robinson M, Mauldin D, Brunkow ME, Biswas S, Kim JM, Kwon KS, Jung JU, Galas D, Serikawa K, Duerr RH, Guthery SL, Peschon J, Hood L, Roach JC, Glusman G. Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals. Hum Genome Var. 2016 Jan 7;3:15060. doi: 10.1038/hgv.2015.60. eCollection 2016.
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