ArticlemedRxiv : the preprint server for health sciences2024
Investigating the Relationship Between Rare Genetic Variants and Fibrosis in Pediatric Nonalcoholic Fatty Liver Disease.
Julia Wattacheril, Sarah E Kleinstein, Patrick R Shea, Laura A Wilson, G Mani Subramanian, Robert P Myers, Jay Lefkowitch, Cynthia Behling, Stavra A Xanthakos, David B Goldstein and 1 more
Open access · greenAbstract readPreprint
In one paragraphArticle in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed, 0 citations in OpenAlex.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
11 authors at 6 institutions in 3 countries.
Julia WattacherilColumbia University Vagelos College of Physicians and Surgeons, Department of Medicine, Center for Liver Disease and Transplantation, New York Presbyterian Hospital.ORCID 0000-0002-0368-0860 Sarah E KleinsteinColumbia University Vagelos College of Physicians and Surgeons, Institute for Genomic Medicine.ORCID 0000-0002-9714-5155 Patrick R SheaColumbia University Vagelos College of Physicians and Surgeons, Institute for Genomic Medicine.ORCID 0000-0001-6804-5131 Laura A WilsonDepartment of Epidemiology, Johns Hopkins University.
G Mani SubramanianOrsoBio, Inc.
Robert P MyersOrsoBio, Inc.
Jay LefkowitchColumbia University Vagelos College of Physicians and Surgeons, Department of Pathology.
Cynthia BehlingUniversity of California San Diego, Department of Pathology.
Stavra A XanthakosDepartment of Pediatrics, University of Cincinnati, Cincinnati Children's Hospital Medical Center.
David B GoldsteinColumbia University Vagelos College of Physicians and Surgeons, Institute for Genomic Medicine.
NASH Clinical Research Network
Columbia University · USCincinnati Children's Hospital Medical Center · USColumbia College · CAJohns Hopkins University · USNewYork–Presbyterian Hospital · USUniversity of California San Diego · US
Funding
Implementing a Maternal health and PRegnancy Outcomes Vision for Everyone (IMPROVE)UL1TR002378 · NCATS · EMORY UNIVERSITY · PI Andres J Garcia, Elizabeth O. Ofili · 2017 to 2026
$92.1MEngaging University of California Stakeholders for Biorespository ResearchUL1TR000004 · NCATS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GRANDIS, JENNIFER RUBIN · 2012 to 2015
$78.0MInstitute of Translational Health SciencesUL1TR000423 · NCATS · UNIVERSITY OF WASHINGTON · PI DISIS, MARY L. · 2012 to 2016
$49.4MWashington University Institute of Clinical and Translational SciencesUL1TR000448 · NCATS · WASHINGTON UNIVERSITY · PI EVANOFF, BRADLEY A · 2012 to 2016
$41.4MClinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2MAtlanta Clinical and Translational Science Institute (ACTSI) RenewalUL1TR000454 · NCATS · EMORY UNIVERSITY · PI STEPHENS, DAVID S · 2012 to 2016
$25.8MPediatric Trials in Non-Alcoholic Steatohepatitis (NASH)U01DK061734 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ROHIT LOOMBA · 2002 to 2026
$24.4MContinuation of the Non-Alcoholic Steatohepatitis Clinical Research Network (NASHU01DK061730 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI TONASCIA, JAMES A · 2002 to 2018
$23.2MSan Diego Clinical and Translational Research InstituteUL1TR000100 · NCATS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI FIRESTEIN, GARY S · 2012 to 2015
$19.7MNon Alcoholic Steatohepatitis Clinical Research NetworkU01DK061732 · NIDDK · CLEVELAND CLINIC LERNER COM-CWRU · PI Srinivasan Dasarathy · 2002 to 2026
$12.2MThe Saint Louis University Component of the NASH CRNU01DK061718 · NIDDK · SAINT LOUIS UNIVERSITY · PI BRENT A NEUSCHWANDER-TETRI · 2002 to 2026
$12.0MVEDS Year2-Continuation of the Nonalcoholic Steatohepatitis Clinical Research Network (NASH CRN) Data Coordinating CenterU24DK061730 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI JEANNE M CLARK, David M Shade · 2019 to 2026
$11.3MNCATS NIH HHS UL1 TR000004NCATS NIH HHS UL1 TR000006NCATS NIH HHS UL1 TR000040NCATS NIH HHS UL1 TR000077NCATS NIH HHS UL1 TR000100NCATS NIH HHS UL1 TR000150NCATS NIH HHS UL1 TR000423NCATS NIH HHS UL1 TR000424NCATS NIH HHS UL1 TR000448NCATS NIH HHS UL1 TR000454NCATS NIH HHS UL1 TR002378NIDDK NIH HHS U01 DK061713NIDDK NIH HHS U01 DK061718NIDDK NIH HHS U01 DK061728NIDDK NIH HHS U01 DK061730NIDDK NIH HHS U01 DK061732NIDDK NIH HHS U01 DK061734NIDDK NIH HHS U01 DK061737NIDDK NIH HHS U01 DK061738NIDDK NIH HHS U24 DK061730
6 · The paper itselfAbstract
Background and Aims: Nonalcoholic Fatty Liver Disease (NAFLD) is a complex human disease. Common genetic variation in the patatin-like phospholipase domain containing 3 ( Methods: Whole exome sequencing data was generated for 229 pediatric patients diagnosed with NAFLD recruited from the NASH Clinical Research Network (NASH CRN). Case-control single variant and gene-based collapsing analyses were used to test for rare variants that were enriched or depleted within the pediatric NAFLD cohort specifically for advanced fibrosis (cases) versus those without fibrosis (controls) or six other histologic characteristics. Exome data from non-NAFLD population controls were also used for additional analyses. All results were adjusted for multiple testing using a Bonferroni correction. Results: No genome-wide significant associations were found between rare variation and presence of advanced fibrosis or NASH, nor the severity of steatosis, inflammation, or hepatocellular ballooning. Significantly, no enrichment of rare variants in Conclusion: In a cohort of children with histologically proven NAFLD, no genome-wide significant associations were found between rare genetic variation and advanced fibrosis or six other histologic features. Of particular interest was the lack of association with genes of interest in adults:
Identifiers
PMID38496563
PMCPMC10942529
OpenAlexW4392467301
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390