Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health.

Journal

Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086

Informations de publication

Date de publication:
24 Jan 2024
Historique:
medline: 24 1 2024
pubmed: 24 1 2024
entrez: 24 1 2024
Statut: ppublish

Résumé

The human retina is a multilayered tissue that offers a unique window into systemic health. Optical coherence tomography (OCT) is widely used in eye care and allows the noninvasive, rapid capture of retinal anatomy in exquisite detail. We conducted genotypic and phenotypic analyses of retinal layer thicknesses using macular OCT images from 44,823 UK Biobank participants. We performed OCT layer cross-phenotype association analyses (OCT-XWAS), associating retinal thicknesses with 1866 incident conditions (median 10-year follow-up) and 88 quantitative traits and blood biomarkers. We performed genome-wide association studies (GWASs), identifying inherited genetic markers that influence retinal layer thicknesses and replicated our associations among the LIFE-Adult Study (

Identifiants

DOI: 10.1126/scitranslmed.adg4517 PMID: 38266105
pubmed: 38266105
doi: 10.1126/scitranslmed.adg4517
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

eadg4517

Auteurs

Seyedeh Maryam Zekavat (SM)

Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA 02114, USA.
Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
ORCID: 0000-0003-4026-8944

Saman Doroodgar Jorshery (SD)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Departments of Computer Science/Medicine, University of Toronto, Toronto, ON M5S 1A1, Canada.
Vector Institute for Artificial Intelligence, Toronto, ON M5G 1M1, Canada.
Department of Computer Science and Electrical Engineering, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
Cardiovascular Imaging Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
ORCID: 0000-0003-2771-0582

Franziska G Rauscher (FG)

Institute for Medical Informatics, Statistics, and Epidemiology (IMISE), Leipzig University, Leipzig 04107, Germany.
Leipzig Research Centre for Civilization Diseases (LIFE), Leipzig University, Leipzig 04103, Germany.
ORCID: 0000-0003-0183-0340

Katrin Horn (K)

Institute for Medical Informatics, Statistics, and Epidemiology (IMISE), Leipzig University, Leipzig 04107, Germany.
ORCID: 0000-0002-5307-6936

Sayuri Sekimitsu (S)

Tufts University School of Medicine, Boston, MA 02111, USA.
ORCID: 0000-0002-6480-8880

Satoshi Koyama (S)

Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
ORCID: 0000-0002-9286-0360

Trang T Nguyen (TT)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
ORCID: 0009-0004-9413-5965

Maria C Costanzo (MC)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

Dongkeun Jang (D)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
ORCID: 0009-0000-5947-1067

Noël P Burtt (NP)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
ORCID: 0009-0006-4893-7945

Andreas Kühnapfel (A)

Institute for Medical Informatics, Statistics, and Epidemiology (IMISE), Leipzig University, Leipzig 04107, Germany.
ORCID: 0000-0003-3668-0784

Yusrah Shweikh (Y)

Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA 02114, USA.

Yixuan Ye (Y)

Computational Biology and Bioinformatics Program, Yale School of Medicine, New Haven, CT 06511, USA.

Vineet Raghu (V)

Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Cardiovascular Imaging Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
ORCID: 0000-0003-3524-3945

Hongyu Zhao (H)

Computational Biology and Bioinformatics Program, Yale School of Medicine, New Haven, CT 06511, USA.
School of Public Health, Yale University, New Haven, CT 06510, USA.
ORCID: 0000-0003-1195-9607

Marzyeh Ghassemi (M)

Departments of Computer Science/Medicine, University of Toronto, Toronto, ON M5S 1A1, Canada.
Vector Institute for Artificial Intelligence, Toronto, ON M5G 1M1, Canada.
Department of Computer Science and Electrical Engineering, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
ORCID: 0000-0001-6349-7251

Tobias Elze (T)

Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA 02114, USA.
ORCID: 0000-0002-2032-0496

Ayellet V Segrè (AV)

Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA 02114, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
ORCID: 0000-0001-6806-5845

Janey L Wiggs (JL)

Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA 02114, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
ORCID: 0000-0003-1890-3278

Lucian Del Priore (L)

Department of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, CT 06510, USA.
ORCID: 0000-0002-8563-121X

Markus Scholz (M)

Institute for Medical Informatics, Statistics, and Epidemiology (IMISE), Leipzig University, Leipzig 04107, Germany.
Leipzig Research Centre for Civilization Diseases (LIFE), Leipzig University, Leipzig 04103, Germany.

Jay C Wang (JC)

Department of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, CT 06510, USA.
Northern California Retina Vitreous Associates, Mountain View, CA 94040, USA.
ORCID: 0000-0002-5213-8584

Pradeep Natarajan (P)

Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
ORCID: 0000-0001-8402-7435

Nazlee Zebardast (N)

Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA 02114, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
ORCID: 0000-0003-1763-9401

Classifications MeSH