Cited by 291Inflammatory Bowel DiseaseGenetic Associations and EpidemiologyPsoriasis: Treatment and Pathogenesis

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Diverse Genome-wide Association Studies Associate the IL12/IL23 Pathway with Crohn Disease

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Wang, Kai, Zhang, Haitao, Kugathasan, Subra, Annese, Vito, Bradfield, Jonathan P., Russell, Richard K., Sleiman, Patrick M.A., Imielinski, Marcin, Glessner, Joseph, Hou, Cuiping, Wilson, David C., Walters, Thomas, Kim, Cecilia, Frackelton, Edward C., Lionetti, Paolo, Barabino, Arrigo, Van Limbergen, Johan, Guthery, Stephen, Denson, Lee, Piccoli, David, Li, Mingyao, Dubinsky, Marla, Silverberg, Mark, Griffiths, Anne, Grant, Struan F.A., Satsangi, Jack, Baldassano, Robert, Hakonarson, Hakon·2009·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2009.01.026PMC PMC2668006

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Abstract

Previous genome-wide association (GWA) studies typically focus on single-locus analysis, which may not have the power to detect the majority of genuinely associated loci. Here, we applied pathway analysis using Affymetrix SNP genotype data from the Wellcome Trust Case Control Consortium (WTCCC) and uncovered significant association between Crohn Disease (CD) and the IL12/IL23 pathway, harboring 20 genes (p = 8 x 10(-5)). Interestingly, the pathway contains multiple genes (IL12B and JAK2) or homologs of genes (STAT3 and CCR6) that were recently identified as genuine susceptibility genes only through meta-analysis of several GWA studies. In addition, the pathway contains other susceptibility genes for CD, including IL18R1, JUN, IL12RB1, and TYK2, which do not reach genome-wide significance by single-marker association tests. The observed pathway-specific association signal was subsequently replicated in three additional GWA studies of European and African American ancestry generated on the Illumina HumanHap550 platform. Our study suggests that examination beyond individual SNP hits, by focusing on genetic networks and pathways, is important to unleashing the true power of GWA studies.

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Authors: Wang, K., Zhang, H., Kugathasan, S., Annese, V., Bradfield, J. P., Russell, R. K., Sleiman, P. M. A., Imielinski, M., Glessner, J., Hou, C., Wilson, D. C., Walters, T., Kim, C., Frackelton, E. C., Lionetti, P., Barabino, A., Van Limbergen, J., Guthery, S., Denson, L., Piccoli, D., Li, M., Dubinsky, M., Silverberg, M., Griffiths, A., Grant, S. F. A., Satsangi, J., Baldassano, R., & Hakonarson, H.
Affiliations: Children's Hospital of Philadelphia (US)
Emory University (US)
Istituti di Ricovero e Cura a Carattere Scientifico (IT)
University of Edinburgh (GB)
University of Toronto (CA)
Meyer Children's Hospital (IT)
Istituto Giannina Gaslini (IT)
University of Utah (US)
Cincinnati Children's Hospital Medical Center (US)
University of Pennsylvania (US)
Cedars-Sinai Medical Center (US)
Mount Sinai Hospital (CA)
Western General Hospital (GB)
Corresponding author: Hakonarson, Hakon
ORCID: Zhang, Haitao
Kugathasan, Subra
Annese, Vito
Russell, Richard K.
Imielinski, Marcin
Glessner, Joseph
Walters, Thomas
Lionetti, Paolo
Guthery, Stephen
Denson, Lee
Li, Mingyao
Dubinsky, Marla
Silverberg, Mark
Griffiths, Anne
Grant, Struan F.A.
Baldassano, Robert
Hakonarson, Hakon
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2009-03
Volume: 84
Issue: 3
Pages: 399-405
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2009.01.026
PMC: PMC2668006
OpenAlex: W2006543991
Cited by: 291
References: 40
Citations by year: 2026: 2 · 2025: 11 · 2024: 12 · 2023: 12 · 2022: 9 · 2021: 12 · 2020: 11 · 2019: 3 · 2018: 7 · 2017: 13 · 2016: 20 · 2015: 21 · 2014: 20 · 2013: 34 · 2012: 33
FWCI: 20.28
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 1635 d)
Locations: The American Journal of Human Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
Florence Research (University of Florence) (submittedVersion)
Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
Funders: Wellcome Trust
National Institutes of Health (UL1TR000077)
National Institute of Diabetes and Digestive and Kidney Diseases (K23DK069513, DK 069513, P30DK063491)
National Center for Research Resources (C06RR011234, M01-RR 00064, M01RR002172, M01RR000064)
National Center for Advancing Translational Sciences
Topics: Health Sciences › Medicine › Gastroenterology › Inflammatory Bowel Disease
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Immunology and Microbiology › Immunology › Psoriasis: Treatment and Pathogenesis
Keywords: Crohn's disease, pathway analysis, genetic susceptibility, IL12B, JAK2, STAT3, CCR6, IL18R1, c-Jun, IL12RB1, TYK2, gene networks
MeSH terms: Crohn Disease, Humans, Signal Transduction, Interleukin-12, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Databases, Genetic, Interleukin-23, Genome-Wide Association Study

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Diverse Genome-wide Association Studies Associate the IL12/IL23 Pathway with Crohn Disease

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