Evidence map›Paper›PMID 37156999›Full record

ArticleNature genetics2023

Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.

Zhanju Liu, Ruize Liu, Han Gao, Seulgi Jung, Xiang Gao, Ruicong Sun, Xiaoming Liu, Yongjae Kim, Ho-Su Lee, Yosuke Kawai and 24 more

Open access · greenAbstract read
In one paragraph

Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 146 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
146citing papers in PubMed, 7 pooled it
60.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

146 citing papers in PubMed, 7 syntheses or guidelines pooled it, 190 citations in OpenAlex.

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86 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

34 authors at 20 institutions in 23 countries.

Zhanju Liu *Center for IBD Research, Department of Gastroenterology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China. zhanjuliu@tongji.edu.cn.ORCID http://orcid.org/0000-0002-0326-543X
Ruize Liu *Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Han Gao *Center for IBD Research, Department of Gastroenterology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.
Seulgi JungDepartment of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, Korea.ORCID http://orcid.org/0000-0002-7264-4310
Xiang GaoCenter for IBD Research, Department of Gastroenterology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.
Ruicong SunCenter for IBD Research, Department of Gastroenterology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.
Xiaoming LiuInflammatory Bowel Diseases Research Center, Department of Gastroenterology, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Yongjae KimDepartment of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, Korea.
Ho-Su LeeDepartment of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, Korea.
Yosuke KawaiGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.ORCID http://orcid.org/0000-0003-0666-1224
Masao NagasakiHuman Biosciences Unit for the Top Global Course Center for the Promotion of Interdisciplinary Education and Research, Kyoto University, Kyoto, Japan.ORCID http://orcid.org/0000-0002-4292-8785
Junji UmenoDepartment of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.ORCID http://orcid.org/0000-0002-5253-5600
Katsushi TokunagaGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.ORCID http://orcid.org/0000-0001-5501-0503
Yoshitaka KinouchiStudent Healthcare Center, Institute for Excellence in Higher Education, Tohoku University, Sendai, Japan.
Atsushi MasamuneDivision of Gastroenterology, Tohoku University Graduate School of Medicine, Sendai, Japan.ORCID http://orcid.org/0000-0001-7184-7282
Wenzhao ShiDigital Health China Technologies Corp Ltd., Beijing, China.
Chengguo ShenDigital Health China Technologies Corp Ltd., Beijing, China.
Zhenglin GuoStanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Kai YuanAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-8460-6581
FinnGen
International Inflammatory Bowel Disease Genetics Consortium
Chinese Inflammatory Bowel Disease Genetics Consortium
Shu ZhuInstitute of Immunology, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.ORCID http://orcid.org/0000-0002-8163-0869
Dalin LiWidjaja Inflammatory Bowel Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0003-4738-0074
Jianjun LiuGenome Institute of Singapore, Singapore, Singapore.ORCID http://orcid.org/0000-0002-3255-3019
Tian GeDepartment of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Judy ChoIcahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-7959-0466
Mark J DalyAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Dermot P B McGovernWidjaja Inflammatory Bowel Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Byong Duk YeDepartment of Gastroenterology and Inflammatory Bowel Disease Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.ORCID http://orcid.org/0000-0001-6647-6325
Kyuyoung SongDepartment of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, Korea. kysong@amc.seoul.kr.ORCID http://orcid.org/0000-0003-3067-0139
Yoichi KakutaDivision of Gastroenterology, Tohoku University Graduate School of Medicine, Sendai, Japan. ykakuta@med.tohoku.ac.jp.ORCID http://orcid.org/0000-0002-7042-009X
Mingsong LiInflammatory Bowel Diseases Research Center, Department of Gastroenterology, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China. lims661216@163.com.ORCID http://orcid.org/0000-0003-2115-5928
Hailiang HuangAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. hhuang@broadinstitute.org.ORCID http://orcid.org/0000-0003-1461-5762
Broad Institute · USTongji University · CNUlsan College · KRChildren's Hospital of Philadelphia · USTohoku University · JPDalian Medical University · CNEmory University · USHarvard University · USShanxi Medical University · CNUnion Hospital · CNUniversity of Miami · USCentral South University · CNCincinnati Children's Hospital Medical Center · USCleveland Clinic · USDigital China Health (China) · CNHebei Medical University · CNLithuanian University of Health Sciences · LTMount Sinai Hospital · CANanjing University of Chinese Medicine · CNNational Center for Global Health and Medicine · JP

Funding

Pilot & Feasibility ProgramP30DK043351 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI Ramnik J Xavier · 1991 to 2026
$35.3M
Utilizing the Phenomics of IBD to Enhance Gene DiscoveryU01DK062413 · NIDDK · CEDARS-SINAI MEDICAL CENTER · PI Dermot Patrick McGovern · 2002 to 2026
$12.2M
IBD Gene Mapping by Clinical and Population SubsetsU01DK062431 · NIDDK · RUTGERS BIOMEDICAL AND HEALTH SCIENCES · PI Steven R Brant · 2002 to 2026
$10.7M
NIDDK IBD Genetics Consortium Genetic Research CenterU01DK062420 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DUERR, RICHARD H · 2002 to 2021
$7.8M
Identification and characterization of inflammatory bowel disease causal variantsR01DK129364 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI Hailiang Huang · 2022 to 2026
$3.4M
Improving Methods and Practices for Trans-Ethnic Genetic StudiesR01HG012354 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Tian Ge · 2023 to 2026
$2.2M
Genetics and gene regulation in the inflammatory bowel diseasesK01DK114379 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI HUANG, HAILIANG · 2017 to 2021
$632k
Improving Methods and Practices for Trans-Ethnic Genetic StudiesR56HG012354 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI GE, TIAN · 2022 to 2022
$475k
NHGRI NIH HHS R01 HG012354NHGRI NIH HHS R56 HG012354NIDDK NIH HHS K01 DK114379NIDDK NIH HHS P30 DK043351NIDDK NIH HHS R01 DK129364NIDDK NIH HHS U01 DK062413NIDDK NIH HHS U01 DK062420NIDDK NIH HHS U01 DK062431
6 · The paper itself

Abstract

Inflammatory bowel diseases (IBDs) are chronic disorders of the gastrointestinal tract with the following two subtypes: Crohn's disease (CD) and ulcerative colitis (UC). To date, most IBD genetic associations were derived from individuals of European (EUR) ancestries. Here we report the largest IBD study of individuals of East Asian (EAS) ancestries, including 14,393 cases and 15,456 controls. We found 80 IBD loci in EAS alone and 320 when meta-analyzed with ~370,000 EUR individuals (~30,000 cases), among which 81 are new. EAS-enriched coding variants implicate many new IBD genes, including ADAP1 and GIT2. Although IBD genetic effects are generally consistent across ancestries, genetics underlying CD appears more ancestry dependent than UC, driven by allele frequency (NOD2) and effect (TNFSF15). We extended the IBD polygenic risk score (PRS) by incorporating both ancestries, greatly improving its accuracy and highlighting the importance of diversity for the equitable deployment of PRS.

Indexed as

Colitis, UlcerativeCrohn DiseaseInflammatory Bowel DiseasesAdaptor Proteins, Signal TransducingEast Asian PeopleEuropean PeopleGenetic Predisposition to DiseaseGenome-Wide Association StudyGTPase-Activating ProteinsHumansNerve Tissue ProteinsNod2 Signaling Adaptor ProteinPolymorphism, Single NucleotideTumor Necrosis Factor Ligand Superfamily Member 15ADAP1 protein, humanAdaptor Proteins, Signal TransducingGIT2 protein, humanGTPase-Activating ProteinsNerve Tissue ProteinsNOD2 protein, humanNod2 Signaling Adaptor ProteinTNFSF15 protein, humanTumor Necrosis Factor Ligand Superfamily Member 15

Identifiers

PMID37156999
PMCPMC10290755
OpenAlexW4375859145

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.