Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Transcending Genome-Wide Association Studies to Create Useful Multi-omic Views of Glaucoma.

Progress in retinal and eye research·2026

Same author

Mendelian randomisation in ophthalmology: An overview and practical guide for clinicians.

European journal of ophthalmology·2026

Same author

Eyes of Africa: The Genetics of Blindness. Baseline characteristics, ocular features, and associations with glaucoma in continental Africans.

Eye (London, England)·2026

Same author

Macula- Versus Disc-Centered Fundus Photography: Performance in Age-Prediction and Disease Associations.

Investigative ophthalmology & visual science·2026

Same author

Head-to-Head Comparative Evaluation of Four Commercially Available Artificial Intelligence Systems for Detecting Referable Diabetic Retinopathy in a Tanzanian Population.

Diabetes care·2026

Same author

A Primary Open-Angle Glaucoma Locus Near Transcription Factor <i>PRRX1</i> Identified in the Million Veteran Program.

Ophthalmology science·2026

Same journal

Genetic survey of biomarkers at early and mid-pregnancy identifies pregnancy-specialized immune regulation.

PLoS genetics·2026

Same journal

Argonaute proteins orchestrate Meiotic Sex Chromosome Inactivation and timing of the spermatogenic transcriptional program.

PLoS genetics·2026

Same journal

Genome wide association study meta-analysis of neuropathologic lesions of Alzheimer's disease and related dementias in a multi-site autopsy cohort.

PLoS genetics·2026

Same journal

Microtubule stiffening by the doublecortin-domain protein ZYG-8 contributes to mitotic spindle orientation during zygote division in Caenorhabditis elegans.

PLoS genetics·2026

Same journal

Multiple instance fine-mapping: Predicting causal regulatory variants with a deep sequence model.

PLoS genetics·2026

Same journal

Nuclear ubiquitin-conjugating enzyme TrUbc4 and F-box protein TrFwd1-mediated modification of Cre1 in Trichoderma reesei establishes a regulatory mechanism for carbon catabolite repression.

PLoS genetics·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Aug 11, 2025

Quantification of Vascular Parameters in Whole Mount Retinas of Mice with Non-Proliferative and Proliferative Retinopathies

Quantification of Vascular Parameters in Whole Mount Retinas of Mice with Non-Proliferative and Proliferative Retinopathies

Published on: March 12, 2022

GWAS on retinal vasculometry phenotypes.

Xiaofan Jiang^1,2, Pirro G Hysi^2,3,4, Anthony P Khawaja⁵

¹UCL Institute of Ophthalmology, London, United Kingdom.

|February 9, 2023

Summary

This summary is machine-generated.

Genetic analysis of retinal vasculature reveals links to cardiometabolic health. Arteriolar tortuosity, a retinal vascular trait, was found to cause elevated diastolic blood pressure, not the reverse.

More Related Videos

Using Retinal Imaging to Study Dementia

Using Retinal Imaging to Study Dementia

Published on: November 6, 2017

Measuring Retinal Vessel Diameter from Mouse Fluorescent Angiography Images

Measuring Retinal Vessel Diameter from Mouse Fluorescent Angiography Images

Published on: May 19, 2023

Related Experiment Videos

Last Updated: Aug 11, 2025

Quantification of Vascular Parameters in Whole Mount Retinas of Mice with Non-Proliferative and Proliferative Retinopathies

Quantification of Vascular Parameters in Whole Mount Retinas of Mice with Non-Proliferative and Proliferative Retinopathies

Published on: March 12, 2022

Using Retinal Imaging to Study Dementia

Using Retinal Imaging to Study Dementia

Published on: November 6, 2017

Measuring Retinal Vessel Diameter from Mouse Fluorescent Angiography Images

Measuring Retinal Vessel Diameter from Mouse Fluorescent Angiography Images

Published on: May 19, 2023

Area of Science:

Ophthalmology
Cardiovascular Science
Genetics

Background:

The eye provides a unique non-invasive window to inspect the cardiovascular and nervous systems.
Ocular parameters may offer insights into systemic physiology and homeostasis.
Retinal vasculature imaging allows for direct assessment of vascular traits.

Purpose of the Study:

To genetically characterize retinal vasculature phenotypes.
To investigate the association between retinal vascular traits and cardiometabolic health.
To explore causal relationships between retinal vascular factors and blood pressure.

Main Methods:

Conducted four genome-wide association studies on retinal vasculometry phenotypes (tortuosity and width).
Analyzed associations between genetic loci and retinal vascular traits.
Performed causal inference analyses to determine the directionality of effects.

Main Results:

Identified 119 regions associated with retinal vasculature traits.
Found 89 loci linked to arteriolar tortuosity, with rs35131825 being the strongest.
Discovered 2 loci for arteriolar width and 17 for venular tortuosity, plus 11 novel associations for venular width.
Causal inference indicated arteriolar tortuosity influences diastolic blood pressure.

Conclusions:

Genetic factors influencing retinal vascular traits are significantly associated with cardiometabolic health.
Arteriolar tortuosity is a causal factor for elevated diastolic blood pressure.
Retinal vascular imaging holds potential for understanding systemic cardiovascular health.