Evidence map›Paper›PMID 37292770›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Insights into human health from phenome- and genome-wide analyses of UK Biobank retinal optical coherence tomography phenotypes.

Seyedeh Maryam Zekavat, Saman Doroodgar Jorshery, Yusrah Shweikh, Katrin Horn, Franziska G Rauscher, Sayuri Sekimitsu, Satoshi Kayoma, Yixuan Ye, Vineet Raghu, Hongyu Zhao and 9 more

Open access · greenAbstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed, 6 citations in OpenAlex.

  1. Article
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

19 authors at 6 institutions in 3 countries.

Seyedeh Maryam ZekavatDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
Saman Doroodgar JorsheryProgram in Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Yusrah ShweikhDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
Katrin HornInstitute for Medical Informatics, Statistics and Epidemiology University of Leipzig, Germany and Leipzig Research Centre for Civilization Diseases (LIFE), Leipzig University, Leipzig, Germany.
Franziska G RauscherInstitute for Medical Informatics, Statistics and Epidemiology University of Leipzig, Germany and Leipzig Research Centre for Civilization Diseases (LIFE), Leipzig University, Leipzig, Germany.
Sayuri SekimitsuTufts University School of Medicine, Boston, MA, USA.
Satoshi KayomaCardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Yixuan YeComputational Biology and Bioinformatics Program, Yale University, New Haven, CT, USA.
Vineet RaghuCardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Hongyu ZhaoComputational Biology and Bioinformatics Program, Yale University, New Haven, CT, USA.
Marzyeh GhassemiDepartments of Computer Science/Medicine, University of Toronto, Toronto, Canada.
Tobias ElzeDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
Ayellet V SegrèDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
Janey L WiggsDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
Markus ScholzInstitute for Medical Informatics, Statistics and Epidemiology University of Leipzig, Germany and Leipzig Research Centre for Civilization Diseases (LIFE), Leipzig University, Leipzig, Germany.
Lucian Del PrioreDepartment of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, CT, USA.
Jay C WangDepartment of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, CT, USA.
Pradeep NatarajanCardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Nazlee ZebardastDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
Broad Institute · USMassachusetts Eye and Ear Infirmary · USYale University · USLeipzig University · DETufts University · USUniversity of Toronto · CA

Funding

VISION RESEARCHP30EY003790 · NEI · SCHEPENS EYE RESEARCH INSTITUTE · PI Tobias Elze · 1985 to 2026
$25.5M
The NEIGHBORHOOD: POAG Heritable Overall Operational DatabaseR01EY022305 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI WIGGS, JANEY L · 2012 to 2025
$7.9M
Genetic and Environmental Risk Factors for Exfoliation Syndrome and GlaucomaR01EY020928 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI KANG, JAE H, WIGGS, JANEY L · 2011 to 2025
$7.3M
Clonal hematopoiesis in the Womens Health Initiative Memory StudyR01HL148565 · NHLBI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI ALEXANDER P REINER, Eric A. Whitsel · 2019 to 2026
$5.9M
Clonal hematopoiesis in humans: determinants of development and progressionR01HL148050 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI BALLANTYNE, CHRISTIE MITCHELL, NATARAJAN, PRADEEP · 2019 to 2022
$5.9M
Understanding the clinical impact of cumulative genetic risk to glaucomaR01EY032559 · NEI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Louis Robert Pasquale, Janey L Wiggs · 2021 to 2026
$4.3M
Defining early-onset glaucomagenetic etiologiesR01EY031820 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI WIGGS, JANEY L · 2020 to 2024
$3.6M
Personalizing Glaucoma Diagnosis by Disease Specific Patterns and Individual Eye AnatomyR01EY030575 · NEI · SCHEPENS EYE RESEARCH INSTITUTE · PI ELZE, TOBIAS · 2019 to 2023
$2.4M
Glaucoma Risk Prediction Using Machine Learning Integration of Image-Based Phenotypes and Genetic AssociationsK23EY032634 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI ZEBARDAST, NAZLEE · 2021 to 2024
$1.0M
Associating retinal nerve fiber layer thickness with glucose metabolism and diabetic retinopathyR21EY030631 · NEI · SCHEPENS EYE RESEARCH INSTITUTE · PI ELZE, TOBIAS · 2019 to 2020
$554k
Dissecting the impact of clonal hematopoiesis on atherosclerosis using multiscale 'omicsF30HL149180 · NHLBI · YALE UNIVERSITY · PI ZEKAVAT, SEYEDEH MARYAM · 2019 to 2021
$138k
NEI NIH HHS K23 EY032634NEI NIH HHS P30 EY003790NEI NIH HHS R01 EY020928NEI NIH HHS R01 EY022305NEI NIH HHS R01 EY030575NEI NIH HHS R01 EY031820NEI NIH HHS R01 EY032559NEI NIH HHS R21 EY030631NHLBI NIH HHS F30 HL149180NHLBI NIH HHS R01 HL148050NHLBI NIH HHS R01 HL148565
6 · The paper itself

Abstract

The human retina is a complex multi-layered tissue which offers a unique window into systemic health and disease. Optical coherence tomography (OCT) is widely used in eye care and allows the non-invasive, rapid capture of retinal measurements in exquisite detail. We conducted genome- and phenome-wide analyses of retinal layer thicknesses using macular OCT images from 44,823 UK Biobank participants. We performed phenome-wide association analyses, associating retinal thicknesses with 1,866 incident ICD-based conditions (median 10-year follow-up) and 88 quantitative traits and blood biomarkers. We performed genome-wide association analyses, identifying inherited genetic markers which influence the retina, and replicated our associations among 6,313 individuals from the LIFE-Adult Study. And lastly, we performed comparative association of phenome- and genome- wide associations to identify putative causal links between systemic conditions, retinal layer thicknesses, and ocular disease. Independent associations with incident mortality were detected for photoreceptor thinning and ganglion cell complex thinning. Significant phenotypic associations were detected between retinal layer thinning and ocular, neuropsychiatric, cardiometabolic and pulmonary conditions. Genome-wide association of retinal layer thicknesses yielded 259 loci. Consistency between epidemiologic and genetic associations suggested putative causal links between thinning of the retinal nerve fiber layer with glaucoma, photoreceptor segment with AMD, as well as poor cardiometabolic and pulmonary function with PS thinning, among other findings. In conclusion, retinal layer thinning predicts risk of future ocular and systemic disease. Furthermore, systemic cardio-metabolic-pulmonary conditions promote retinal thinning. Retinal imaging biomarkers, integrated into electronic health records, may inform risk prediction and potential therapeutic strategies.

Identifiers

PMID37292770
PMCPMC10246137
OpenAlexW4376868368

What OpenQuestion holds

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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.