Study Results
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Basic Information
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COMPLETED
25 participants
OBSERVATIONAL
2018-05-09
2019-12-30
Brief Summary
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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.
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Detailed Description
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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.
Conditions
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Study Design
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FAMILY_BASED
CROSS_SECTIONAL
Eligibility Criteria
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Inclusion Criteria
* Unaffected 30 individuals from each family as healthy internal control.
Exclusion Criteria
ALL
Yes
Sponsors
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Kyunghee University Medical Center
OTHER
Responsible Party
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Chang Kyun Lee
Professor
Principal Investigators
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Hyo Jong Kim, M.D. PhD
Role: PRINCIPAL_INVESTIGATOR
Kyung Hee University Hospital
Chang Kyun Lee, M.D. PhD
Role: PRINCIPAL_INVESTIGATOR
Kyung Hee University Hospital
Locations
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Kyung Hee University Medical Center
Seoul, , South Korea
Countries
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References
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Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007 Jun 7;447(7145):661-78. doi: 10.1038/nature05911.
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.
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.
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.
Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN, Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A, Boucher G, Brand S, Buning C, Cohain A, Cichon S, D'Amato M, De Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH, Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W, Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ, Zeissig S, Zhang B, Zhang CK, Zhao H; International IBD Genetics Consortium (IIBDGC); Silverberg MS, Annese V, Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC, Cho JH. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 2012 Nov 1;491(7422):119-24. doi: 10.1038/nature11582.
Other Identifiers
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Familial_IBD_Microbiome
Identifier Type: -
Identifier Source: org_study_id
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