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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.
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.
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| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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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.
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| Name | Affiliation | Role |
|---|---|---|
| Hyo Jong Kim, M.D. PhD | Kyung Hee University Hospital | Principal Investigator |
| Chang Kyun Lee, M.D. PhD | Kyung Hee University Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Kyung Hee University Medical Center | Seoul | 180-702 | South Korea |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 17554300 | Background | 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. | |
| 19086963 | Background | 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. |
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After publishing the results, any data sharing request from other researchers will be positively considered.
But extent of sharing is not decided yet.
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| ID | Term |
|---|---|
| D015212 | Inflammatory Bowel Diseases |
| ID | Term |
|---|---|
| D005759 | Gastroenteritis |
| D005767 | Gastrointestinal Diseases |
| D004066 | Digestive System Diseases |
| D007410 | Intestinal Diseases |
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Blood and fecal sample from each study subjects
| 3770366 | Background | 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. |
| 27081563 | Background | 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. |
| 23128233 | Background | 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. |