Literature DB >> 26192919

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

Jimmy Z Liu1, Suzanne van Sommeren2,3, Hailiang Huang4, Siew C Ng5, Rudi Alberts2, Atsushi Takahashi6, Stephan Ripke4, James C Lee7, Luke Jostins8, Tejas Shah1, Shifteh Abedian9, Jae Hee Cheon10, Judy Cho11, Naser E Dayani12, Lude Franke3, Yuta Fuyuno13, Ailsa Hart14, Ramesh C Juyal15, Garima Juyal16, Won Ho Kim10, Andrew P Morris17, Hossein Poustchi9, William G Newman18, Vandana Midha19, Timothy R Orchard20, Homayon Vahedi9, Ajit Sood19, Joseph Y Sung5, Reza Malekzadeh9, Harm-Jan Westra3, Keiko Yamazaki13, Suk-Kyun Yang21, Jeffrey C Barrett1, Behrooz Z Alizadeh22, Miles Parkes7, Thelma Bk16, Mark J Daly4, Michiaki Kubo13, Carl A Anderson1, Rinse K Weersma2.   

Abstract

Ulcerative colitis and Crohn's disease are the two main forms of inflammatory bowel disease (IBD). Here we report the first trans-ancestry association study of IBD, with genome-wide or Immunochip genotype data from an extended cohort of 86,640 European individuals and Immunochip data from 9,846 individuals of East Asian, Indian or Iranian descent. We implicate 38 loci in IBD risk for the first time. For the majority of the IBD risk loci, the direction and magnitude of effect are consistent in European and non-European cohorts. Nevertheless, we observe genetic heterogeneity between divergent populations at several established risk loci driven by differences in allele frequency (NOD2) or effect size (TNFSF15 and ATG16L1) or a combination of these factors (IL23R and IRGM). Our results provide biological insights into the pathogenesis of IBD and demonstrate the usefulness of trans-ancestry association studies for mapping loci associated with complex diseases and understanding genetic architecture across diverse populations.

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Year:  2015        PMID: 26192919      PMCID: PMC4881818          DOI: 10.1038/ng.3359

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   41.307


  54 in total

1.  Quantifying heterogeneity in a meta-analysis.

Authors:  Julian P T Higgins; Simon G Thompson
Journal:  Stat Med       Date:  2002-06-15       Impact factor: 2.373

2.  Principal components analysis corrects for stratification in genome-wide association studies.

Authors:  Alkes L Price; Nick J Patterson; Robert M Plenge; Michael E Weinblatt; Nancy A Shadick; David Reich
Journal:  Nat Genet       Date:  2006-07-23       Impact factor: 38.330

3.  Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases.

Authors:  Hon-Cheong So; Allen H S Gui; Stacey S Cherny; Pak C Sham
Journal:  Genet Epidemiol       Date:  2011-03-03       Impact factor: 2.135

4.  A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.

Authors:  Keiko Yamazaki; Junji Umeno; Atsushi Takahashi; Atsushi Hirano; Todd Andrew Johnson; Natsuhiko Kumasaka; Takashi Morizono; Naoya Hosono; Takaaki Kawaguchi; Masakazu Takazoe; Tetsuhiro Yamada; Yasuo Suzuki; Hiroki Tanaka; Satoshi Motoya; Masayo Hosokawa; Yoshiaki Arimura; Yasuhisa Shinomura; Toshiyuki Matsui; Takayuki Matsumoto; Mitsuo Iida; Tatsuhiko Tsunoda; Yusuke Nakamura; Naoyuki Kamatani; Michiaki Kubo
Journal:  Gastroenterology       Date:  2012-12-22       Impact factor: 22.682

5.  HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease.

Authors:  Yukinori Okada; Keiko Yamazaki; Junji Umeno; Atsushi Takahashi; Natsuhiko Kumasaka; Kyota Ashikawa; Tomomi Aoi; Masakazu Takazoe; Toshiyuki Matsui; Atsushi Hirano; Takayuki Matsumoto; Naoyuki Kamatani; Yusuke Nakamura; Kazuhiko Yamamoto; Michiaki Kubo
Journal:  Gastroenterology       Date:  2011-07-19       Impact factor: 22.682

6.  Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.

Authors:  Garima Juyal; Sapna Negi; Ajit Sood; Aditi Gupta; Pushplata Prasad; Sabyasachi Senapati; Jacques Zaneveld; Shalini Singh; Vandana Midha; Suzanne van Sommeren; Rinse K Weersma; Jurg Ott; Sanjay Jain; Ramesh C Juyal; B K Thelma
Journal:  Gut       Date:  2014-05-16       Impact factor: 23.059

7.  Synthetic associations are unlikely to account for many common disease genome-wide association signals.

Authors:  Carl A Anderson; Nicole Soranzo; Eleftheria Zeggini; Jeffrey C Barrett
Journal:  PLoS Biol       Date:  2011-01-18       Impact factor: 8.029

8.  A user's guide to the encyclopedia of DNA elements (ENCODE).

Authors: 
Journal:  PLoS Biol       Date:  2011-04-19       Impact factor: 8.029

9.  Genotype imputation with thousands of genomes.

Authors:  Bryan Howie; Jonathan Marchini; Matthew Stephens
Journal:  G3 (Bethesda)       Date:  2011-11-01       Impact factor: 3.154

10.  Oncostatin M mediates STAT3-dependent intestinal epithelial restitution via increased cell proliferation, decreased apoptosis and upregulation of SERPIN family members.

Authors:  Florian Beigel; Matthias Friedrich; Corina Probst; Karl Sotlar; Burkhard Göke; Julia Diegelmann; Stephan Brand
Journal:  PLoS One       Date:  2014-04-07       Impact factor: 3.240

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  789 in total

1.  Genetic characteristics of inflammatory bowel disease in a Japanese population.

Authors:  Yuta Fuyuno; Keiko Yamazaki; Atsushi Takahashi; Motohiro Esaki; Takaaki Kawaguchi; Masakazu Takazoe; Takayuki Matsumoto; Toshiyuki Matsui; Hiroki Tanaka; Satoshi Motoya; Yasuo Suzuki; Yutaka Kiyohara; Takanari Kitazono; Michiaki Kubo
Journal:  J Gastroenterol       Date:  2015-10-28       Impact factor: 7.527

2.  Identification of critical variants within SLC44A4, an ulcerative colitis susceptibility gene identified in a GWAS in north Indians.

Authors:  A Gupta; B K Thelma
Journal:  Genes Immun       Date:  2016-01-07       Impact factor: 2.676

Review 3.  Intestinal epithelial glycosylation in homeostasis and gut microbiota interactions in IBD.

Authors:  Matthew R Kudelka; Sean R Stowell; Richard D Cummings; Andrew S Neish
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2020-07-24       Impact factor: 46.802

4.  Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans.

Authors:  Chengrui Huang; Talin Haritunians; David T Okou; Dermot P B McGovern; Steven R Brant; Subra Kugathasan; David J Cutler; Michael E Zwick; Kent D Taylor; Lisa W Datta; Joseph C Maranville; Zhenqiu Liu; Shannon Ellis; Pankaj Chopra; Jonathan S Alexander; Robert N Baldassano; Raymond K Cross; Themistocles Dassopoulos; Tanvi A Dhere; Richard H Duerr; John S Hanson; Jason K Hou; Sunny Z Hussain; Kim L Isaacs; Kelly E Kachelries; Howard Kader; Michael D Kappelman; Jeffrey Katz; Richard Kellermayer; Barbara S Kirschner; John F Kuemmerle; Archana Kumar; John H Kwon; Mark Lazarev; Peter Mannon; Dedrick E Moulton; Bankole O Osuntokun; Ashish Patel; John D Rioux; Jerome I Rotter; Shehzad Saeed; Ellen J Scherl; Mark S Silverberg; Ann Silverman; Stephan R Targan; John F Valentine; Ming-Hsi Wang; Claire L Simpson; S Louis Bridges; Robert P Kimberly; Stephen S Rich; Judy H Cho; Anna Di Rienzo; Linda W H Kao
Journal:  Gastroenterology       Date:  2015-08-14       Impact factor: 22.682

Review 5.  Low diversity gut microbiota dysbiosis: drivers, functional implications and recovery.

Authors:  Michael Kriss; Keith Z Hazleton; Nichole M Nusbacher; Casey G Martin; Catherine A Lozupone
Journal:  Curr Opin Microbiol       Date:  2018-07-20       Impact factor: 7.934

6.  A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility.

Authors:  Aditi Gupta; Garima Juyal; Ajit Sood; Vandana Midha; Keiko Yamazaki; Arnau Vich Vila; Motohiro Esaki; Toshiyuki Matsui; Atsushi Takahashi; Michiaki Kubo; Rinse K Weersma; B K Thelma
Journal:  Eur J Hum Genet       Date:  2016-10-19       Impact factor: 4.246

Review 7.  Diagnosis and management of inflammatory bowel disease in children.

Authors:  Stephanie B Oliveira; Iona M Monteiro
Journal:  BMJ       Date:  2017-05-31

8.  An inflammatory bowel disease-risk variant in INAVA decreases pattern recognition receptor-induced outcomes.

Authors:  Jie Yan; Matija Hedl; Clara Abraham
Journal:  J Clin Invest       Date:  2017-04-24       Impact factor: 14.808

9.  Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease.

Authors:  Steven R Brant; David T Okou; Claire L Simpson; David J Cutler; Talin Haritunians; Jonathan P Bradfield; Pankaj Chopra; Jarod Prince; Ferdouse Begum; Archana Kumar; Chengrui Huang; Suresh Venkateswaran; Lisa W Datta; Zhi Wei; Kelly Thomas; Lisa J Herrinton; Jan-Micheal A Klapproth; Antonio J Quiros; Jenifer Seminerio; Zhenqiu Liu; Jonathan S Alexander; Robert N Baldassano; Sharon Dudley-Brown; Raymond K Cross; Themistocles Dassopoulos; Lee A Denson; Tanvi A Dhere; Gerald W Dryden; John S Hanson; Jason K Hou; Sunny Z Hussain; Jeffrey S Hyams; Kim L Isaacs; Howard Kader; Michael D Kappelman; Jeffry Katz; Richard Kellermayer; Barbara S Kirschner; John F Kuemmerle; John H Kwon; Mark Lazarev; Ellen Li; David Mack; Peter Mannon; Dedrick E Moulton; Rodney D Newberry; Bankole O Osuntokun; Ashish S Patel; Shehzad A Saeed; Stephan R Targan; John F Valentine; Ming-Hsi Wang; Martin Zonca; John D Rioux; Richard H Duerr; Mark S Silverberg; Judy H Cho; Hakon Hakonarson; Michael E Zwick; Dermot P B McGovern; Subra Kugathasan
Journal:  Gastroenterology       Date:  2016-09-28       Impact factor: 22.682

Review 10.  Crohn's disease.

Authors:  Giulia Roda; Siew Chien Ng; Paulo Gustavo Kotze; Marjorie Argollo; Remo Panaccione; Antonino Spinelli; Arthur Kaser; Laurent Peyrin-Biroulet; Silvio Danese
Journal:  Nat Rev Dis Primers       Date:  2020-04-02       Impact factor: 52.329

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