ArticleResearch square2023
Genome-wide association identifies novel ROP risk loci in a multi-ethnic cohort.
Jerome Rotter, Xiaohui Li, Leah A Owen, Kent Taylor, Susan Ostmo, Yii-Der Ida Chen, Aaron Coyner, Kemal Sonmez, M Elizabeth Hartnett, Xiuqing Guo and 7 more
Open access · greenAbstract readPreprint
In one paragraphArticle in Research square, 2023. 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
5 · Who and what moneyAuthors and funding
17 authors at 7 institutions in 2 countries.
Jerome RotterLundquist Institute.
Xiaohui LiThe Institute for Translational Genomics and Population Sciences.
Leah A OwenUniversity of Utah, Moran Eye Center.
Kent TaylorThe Institute for Translational Genomics and Population Sciences.
Susan OstmoOregon Health & Science University.
Yii-Der Ida ChenLundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center.
Kemal SonmezCasey Eye Institute Oregon Health & Science University.
M Elizabeth HartnettUniversity of Utah.
Eli IppTHE LUNDQUIST INSTITUTE.
Kathryn RollTHE LUNDQUIST INSTITUTE.
Pauline GenterTHE LUNDQUIST INSTITUTE.
Margaret DeAngelisSUNY-University at Buffalo.
Michael ChiangNational Eye Institute.
Genomics (United Kingdom) · GBOregon Health & Science University · USUniversity of Utah · USHarbor–UCLA Medical Center · USNational Eye Institute · USUniversity at Buffalo, State University of New York · USUniversity of Illinois Chicago · US
Funding
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MTransgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PETER J TONTONOZ · 2003 to 2026
$40.4MProteomics CoreP30EY010572 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI TED S ACOTT · 1995 to 2026
$19.4MUniversity of Utah, Core Vision Research GrantP30EY014800 · NEI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI PAUL STEVEN BERNSTEIN · 2005 to 2026
$14.6MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MMechanisms of Angiogenesis of Retinopathy of PrematurityR01EY015130 · NEI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Mary Elizabeth Ruth Hartnett · 2005 to 2026
$7.6MClinical and Genetic Analysis of Retinopathy of PrematurityR01EY019474 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI CAMPBELL, JOHN PETER · 2010 to 2020
$7.0MGenetics of Diabetic Retinopathy in HispanicsR01EY014684 · NEI · CEDARS-SINAI MEDICAL CENTER · PI ROTTER, JEROME I · 2004 to 2011
$4.4MSystems-Biology Analysis of Mechanisms Informing Preeclampsia-Mediated ROP ProtectionK08EY031800 · NEI · UNIVERSITY OF UTAH · PI OWEN, LEAH A · 2020 to 2022
$497kRobust AI to develop risk models in retinopathy of prematurity using deep learningR21EY031883 · NEI · MASSACHUSETTS GENERAL HOSPITAL · PI KALPATHY-CRAMER, JAYASHREE, RUBIN, DANIEL L · 2020 to 2021
$472kA Phase 2 Study of the Value of Pre-symptomatic Genetic Risk Assessment for Age-Related Macular DegenerationR21EY033579 · NEI · UNIVERSITY OF UTAH · PI BERNSTEIN, PAUL STEVEN, HARTNETT, MARY ELIZABETH RUTH · 2022 to 2023
$423kArtificial intelligence assisted panoramic Optical Coherence Tomography Angiography for Retinopathy of PrematurityR01EY031331 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI CAMPBELL, JOHN PETER, JIAN, YIFAN · 2020 to 2020
$342kNCATS NIH HHS UL1 TR001881NEI NIH HHS K08 EY031800NEI NIH HHS P30 EY010572NEI NIH HHS P30 EY014800NEI NIH HHS R01 EY014684NEI NIH HHS R01 EY015130NEI NIH HHS R01 EY019474NEI NIH HHS R01 EY031331NEI NIH HHS R21 EY031883NEI NIH HHS R21 EY033579NHLBI NIH HHS R01 HL105756NIDDK NIH HHS P30 DK063491
6 · The paper itselfAbstract
We conducted a genome-wide association study (GWAS) in a multiethnic cohort of 920 at-risk infants for retinopathy of prematurity (ROP), a major cause of childhood blindness, identifying 2 loci at genome-wide significance level (p<5×10-8) and 7 at suggestive significance (p<5×10-6) for ROP ≥ stage 3. The most significant locus, rs2058019, reached genome-wide significance within the full multiethnic cohort (p=4.96×10-9); Hispanic and Caucasian infants driving the association. The lead single nucleotide polymorphism (SNP) falls in an intronic region within the Glioma-associated oncogene family zinc finger 3 (GLI3) gene. Relevance for GLI3 and other top-associated genes to human ocular disease was substantiated through in-silico extension analyses, genetic risk score analysis and expression profiling in human donor eye tissues. Thus, we report the largest ROP GWAS to date, identifying a novel locus at GLI3 with relevance to retinal biology supporting genetic susceptibilities for ROP risk with possible variability by race and ethnicity.
Identifiers
PMID37292936
PMCPMC10246102
OpenAlexW4376636721
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390