ArticleScience translational medicine2018
Functional variants in the
Open access · greenAbstract read
In one paragraph
Article in Science translational medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 243 papers, 5 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
243citing papers in PubMed, 5 pooled it
37.4field-weighted citation impact, top 1% of its field
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.
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.
Who cites it
243 citing papers in PubMed, 5 syntheses or guidelines pooled it, 402 citations in OpenAlex.
- The two-directional prospective association between inflammatory bowel disease and neurodegenerative disorders: a systematic review and meta-analysis based on longitudinal studies.Frontiers in immunology · 2024Pooled it
- Are neurodegenerative diseases associated with an increased risk of inflammatory bowel disease? A two-sample Mendelian randomization study.Frontiers in immunology · 2022Pooled it
- Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk.Movement disorders : official journal of the Movement Disorder Society · 2022Pooled it
- Meta-analysis of sample-level dbGaP data reveals novel shared genetic link between body height and Crohn's disease.Human genetics · 2021Pooled it
- Molecular Footprints of the Immune Assault on Pancreatic Beta Cells in Type 1 Diabetes.Frontiers in endocrinology · 2020Pooled it
- Colonic LRRK2 expression is increased in Crohn's disease but not in Parkinson's disease and idiopathic RBD.Acta neuropathologica · 2026Article
- Subtype-specific secretion of extracellular vesicles by LRRK2 and Rab GTPases under lysosomal stress.iScience · 2026Article
- Parkinson's disease-associated LRRK2 risk variant, G2385R, enhances Rab substrate phosphorylation and impairs neuronal integrity.Human molecular genetics · 2026Article
- Canonical and noncanonical autophagy in immunity.Immunity · 2026Review
- R1398 is the GTP-γ-phosphate sensor that drives the ROC G-domain switching mechanism unique to Parkinson's disease-associated LRRK2.Research square · 2026Article
- Targeting of kinases to treat neurodegenerative diseases.Pharmacological reviews · 2026Review
- miR-369-3p Modulates LRRK2-Mediated Inflammation and Autophagy in RAW264.7 Macrophages.International journal of molecular sciences · 2026Article
- The genetic spectrum of LRRK2 variants in Parkinson's disease: findings from a large Chinese cohort.NPJ Parkinson's disease · 2026Article
- LRRK2 kinase mediates increased GCase activity in microglia in response to IFNγ-induced proinflammatory stimulation.NPJ Parkinson's disease · 2026Article
- Genetic risk loci for Parkinson's disease and dementia in a large-scale population-based Taiwanese cohort (TPMI).The Lancet regional health. Western Pacific · 2026Article
- LRRK2 as a Potential Disease-Modifying Target in Sporadic Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2026Review
- Inflammatory signaling differentially changes chromatin accessibility and gene expression of the PD- associated kinase LRRK2 between human and mice.bioRxiv : the preprint server for biology · 2026Article
- Colostrum extracellular vesicles are neuroprotective in models of Parkinson's disease.Theranostics · 2026Article
- Intestinal inflammation promotes neuroinflammation and PD-associated nigrostriatal pathology independently of LRRK2 G2019S kinase activity.Frontiers in cellular neuroscience · 2026Article
- Lysosomal swelling triggers LRRK2 activity.bioRxiv : the preprint server for biology · 2025Article
183 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
51 authors at 20 institutions in 4 countries.
Ken Y HuiSection of Digestive Diseases, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06520, USA.
Heriberto Fernandez-HernandezDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Jianzhong HuDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Adam SchaffnerDepartments of Neurology and Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-8864-5633
Nathan PankratzDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA.ORCID 0000-0001-5958-693X
Nai-Yun HsuDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-1653-2998
Ling-Shiang ChuangDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0001-5054-1305
Shai CarmiBraun School of Public Health and Community Medicine, The Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel.ORCID 0000-0002-0188-2610
Nicole VillaverdeDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-1421-8305
Xianting LiDepartments of Neurology and Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-3153-0931
Manual RivasDepartment of Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA.ORCID 0000-0003-1457-9925
Adam P LevineCentre for Molecular Medicine, Division of Medicine, University College, London WC1E 6JF, UK.ORCID 0000-0003-1333-9938
Xiuliang BaoDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-2042-7090
Philippe R LabriasDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0001-7281-9339
Talin HarituniansTranslational Genomics Group, F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.ORCID 0000-0002-9005-7750
Darren RuaneDepartment of Immunology and Inflammation, Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA.
Kyle GettlerSection of Digestive Diseases, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06520, USA.
Ernie ChenDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0003-1573-7577
Dalin LiTranslational Genomics Group, F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.ORCID 0000-0003-4738-0074
Elena R SchiffCentre for Molecular Medicine, Division of Medicine, University College, London WC1E 6JF, UK.ORCID 0000-0002-9848-1302
Nikolas PontikosCentre for Molecular Medicine, Division of Medicine, University College, London WC1E 6JF, UK.ORCID 0000-0003-1782-4711
Nir BarzilaiDepartments of Genetics and Medicine, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Steven R BrantHarvey M. and Lyn P. Meyerhoff Inflammatory Bowel Disease Center, Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD 21231, USA.ORCID 0000-0003-3019-4240
Susan BressmanAlan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, NY 10003, USA.ORCID 0000-0002-3513-8048
Adam S CheifetzDivision of Gastroenterology, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.
Lorraine N ClarkDepartment of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA.
Mark J DalyDepartment of Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA.ORCID 0000-0002-0949-8752
Robert J DesnickDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0001-5501-2971
Richard H DuerrDivision of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.ORCID 0000-0001-6586-3905
Seymour KatzNew York University School of Medicine, New York City, NY 10016, USA.ORCID 0000-0002-3492-9200
Todd LenczFeinstein Institute for Medical Research, Northwell Health, Manhasset, NY 11030, USA.ORCID 0000-0001-8586-338X
Richard H MyersDepartment of Neurology, Boston University School of Medicine, Boston, MA 02114, USA.ORCID 0000-0002-8365-2674
Harry OstrerDepartments of Pathology and Pediatrics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.ORCID 0000-0002-2209-5376
Laurie OzeliusDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-7820-1684
Haydeh PayamiDepartments of Neurology and Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.ORCID 0000-0001-9084-5338
Yakov PeterDepartment of Biology, Touro College, Queens, NY 10033, USA.ORCID 0000-0002-8822-3334
John D RiouxResearch Center, Montreal Heart Institute, Montreal, Quebec H1T1C8, Canada.ORCID 0000-0001-7560-8326
Anthony W SegalCentre for Molecular Medicine, Division of Medicine, University College, London WC1E 6JF, UK.ORCID 0000-0001-7602-9043
William K ScottDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.ORCID 0000-0001-9336-6404
Mark S SilverbergZane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario M5T3L9, USA.
Jeffery M VanceDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.ORCID 0000-0003-3815-8199
Iban Ubarretxena-BelandiaDepartment of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Tatiana ForoudDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.ORCID 0000-0002-5549-2212
Gil AtzmonDepartments of Genetics and Medicine, Albert Einstein College of Medicine, Bronx, NY 10461, USA.ORCID 0000-0001-6895-3607
Itsik Pe'erCenter for Computational Biology and Bioinformatics, Columbia University, New York, NY 10032, USA.ORCID 0000-0002-6128-7231
Yiannis IoannouDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Dermot P B McGovernTranslational Genomics Group, F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Zhenyu YueDepartments of Neurology and Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Eric E SchadtDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Judy H ChoSection of Digestive Diseases, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06520, USA.ORCID 0000-0002-7959-0466
Inga PeterDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. inga.peter@mssm.edu.ORCID 0000-0002-5638-9137
Icahn School of Medicine at Mount Sinai · USAlbert Einstein College of Medicine · USUniversity College London · GBCedars-Sinai Medical Center · USYale University · USBroad Institute · USUniversity of Miami · USBeth Israel Deaconess Medical Center · USBoston University · USColumbia University · USColumbia University Irving Medical Center · USHebrew University of Jerusalem · ILIndiana University School of MedicineJohns Hopkins University · USMassachusetts General Hospital · USMontreal Heart Institute · CAMount Sinai Beth Israel · USMount Sinai Hospital · CANorth Shore University Hospital · USNorthwell Health · US
Funding
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9MNation Center: Multi-Scale Study- Cellular Networks(RMI)U54CA121852 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CALIFANO, ANDREA · 2005 to 2015
$37.4MPilot & Feasibility ProgramP30DK043351 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI RAYMOND T CHUNG · 1991 to 2026
$35.3MUsing polygenic scores to enhance both variant discovery, and understanding of functional consequences of genetic variation in IBD.P01DK046763 · NIDDK · CEDARS-SINAI MEDICAL CENTER · PI TARGAN, STEPHAN R. · 1992 to 2020
$31.1MInflammatory Bowel Disease Genetics Consortium Data Coordinating CenterU01DK062429 · NIDDK · YALE UNIVERSITY · PI CHO, JUDY H. · 2002 to 2016
$16.8MPrecision IBD via genetics and genomics: integrating International and multi-omic datasets, expanding studies in diverse populations, and defining mechanisms of unmet clinical needs in IBDU24DK062429 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Ling-shiang Chuang, Ron Do · 2017 to 2026
$13.9MUtilizing the Phenomics of IBD to Enhance Gene DiscoveryU01DK062413 · NIDDK · CEDARS-SINAI MEDICAL CENTER · PI Dermot Patrick McGovern · 2002 to 2026
$12.2MPARKINSON DISEASE COLLABORATIVE STUDY OF GENETIC LINKAGER01NS037167 · NINDS · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI FOROUD, TATIANA M. · 1998 to 2010
$11.7MThe Role of HLA and KIR in Rheumatoid Arthritis and Crohn's DiseaseU01AI067068 · NIAID · STANFORD UNIVERSITY · PI ERLICH, HENRY A, TRACHTENBERG, ELIZABETH A · 2005 to 2014
$10.9MYale University Inflammatory Bowel Disease Genetics Research CenterU01DK062422 · NIDDK · YALE UNIVERSITY · PI Ling-shiang Chuang · 2002 to 2026
$10.8MEinstein's Nathan Shock Center of Excellence in Basic Biology of AgingP30AG038072 · NIA · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI VIJG, JAN · 2010 to 2024
$10.8MIBD Gene Mapping by Clinical and Population SubsetsU01DK062431 · NIDDK · RUTGERS BIOMEDICAL AND HEALTH SCIENCES · PI Steven R Brant · 2002 to 2026
$10.7MAHRQ HHS R01 HS021747Medical Research Council MR/L000261/1NCI NIH HHS R01 CA141743NCI NIH HHS U54 CA121852NIAID NIH HHS U01 AI067068NIA NIH HHS P01 AG021654NIA NIH HHS P30 AG038072NIA NIH HHS R01 AG042188NICHD NIH HHS T32 HD007149NIDDK NIH HHS F30 DK098927NIDDK NIH HHS P01 DK046763NIDDK NIH HHS P30 DK043351NIDDK NIH HHS R01 DK092235NIDDK NIH HHS R01 DK106593NIDDK NIH HHS U01 DK062413NIDDK NIH HHS U01 DK062420NIDDK NIH HHS U01 DK062422NIDDK NIH HHS U01 DK062423NIDDK NIH HHS U01 DK062429NIDDK NIH HHS U01 DK062431NIDDK NIH HHS U24 DK062429NIGMS NIH HHS T32 GM007205NIMH NIH HHS R01 MH084098NIMH NIH HHS R01 MH095458NIMH NIH HHS RC2 MH089964NINDS NIH HHS P50 NS071674NINDS NIH HHS P50 NS094733NINDS NIH HHS R01 NS036711NINDS NIH HHS R01 NS036960NINDS NIH HHS R01 NS037167NINDS NIH HHS R01 NS060113NINDS NIH HHS R01 NS060809NINDS NIH HHS R01 NS076843NINDS NIH HHS R21 NS050487NINDS NIH HHS R56 NS037167
Abstract
Crohn's disease (CD), a form of inflammatory bowel disease, has a higher prevalence in Ashkenazi Jewish than in non-Jewish European populations. To define the role of nonsynonymous mutations, we performed exome sequencing of Ashkenazi Jewish patients with CD, followed by array-based genotyping and association analysis in 2066 CD cases and 3633 healthy controls. We detected association signals in the
Indexed as
Genetic Predisposition to DiseaseGenetic VariationAllelesAutophagyCrohn DiseaseCytoskeletonExomeExome SequencingGene FrequencyGene Regulatory NetworksGenetic LociGenome, HumanHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MacrophagesOdds RatioLeucine-Rich Repeat Serine-Threonine Protein Kinase-2
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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.