Evidence map›Paper›PMID 26567291›Full record

ArticleCirculation. Cardiovascular genetics2016

Novel Genetic Loci Associated With Retinal Microvascular Diameter.

Richard A Jensen, Xueling Sim, Albert Vernon Smith, Xiaohui Li, Jóhanna Jakobsdóttir, Ching-Yu Cheng, Jennifer A Brody, Mary Frances Cotch, Barbara Mcknight, Ronald Klein and 24 more

Open access · bronzeAbstract readMulticenter Study
In one paragraph

Article in Circulation. Cardiovascular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
2.4field-weighted citation impact, top 12% of its field
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

20 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.

  1. Pooled it
  2. Development and Validation of Polygenic Scores for Retinal Vessel Calibers.Investigative ophthalmology & visual science · 2025
    Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Genetics of strabismus.Frontiers in ophthalmology · 2023
    Article
  11. A deep learning model for screening type 2 diabetes from retinal photographs.Nutrition, metabolism, and cardiovascular diseases : NMCD · 2022
    Article
  12. Impact of Arterial Hypertension on the Eye: A Review of the Pathogenesis, Diagnostic Methods, and Treatment of Hypertensive Retinopathy.Medical science monitor : international medical journal of experimental and clinical research · 2022
    Review
  13. Article
  14. Recurrent Rare Copy Number Variants Increase Risk for Esotropia.Investigative ophthalmology & visual science · 2020
    Article
  15. Article
  16. Article
  17. Article
  18. A Review on the Extraction of Quantitative Retinal Microvascular Image Feature.Computational and mathematical methods in medicine · 2018
    Review
  19. Article
  20. Independent variant analysis ofMolecular genetics & genomic medicine · 2017
    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

34 authors at 5 institutions in 3 countries.

Richard A Jensen
Xueling Sim
Albert Vernon Smith
Xiaohui Li
Jóhanna Jakobsdóttir
Ching-Yu Cheng
Jennifer A Brody
Mary Frances Cotch
Barbara Mcknight
Ronald Klein
Jie Jin Wang
Annette Kifley
Tamara B Harris
Lenore J Launer
Kent D Taylor
Barbara E K Klein
Leslie J Raffel
Xiang Li
M Arfan Ikram
Caroline C Klaver
Sven J van der Lee
Unal Mutlu
Albert Hofman
André G Uitterlinden
Chunyu Liu
Aldi T Kraja
CHARGE Exome Chip Blood Pressure Consortium
Paul Mitchell
Vilmundur Gudnason
Jerome I Rotter
Eric Boerwinkle
Cornelia M van Duijn
Bruce M Psaty
Tien Y Wong
Aga Khan Foundation · KGJensen Hughes (United States) · USKlein Buendel (United States) · USMitchell School District · USXiaomi (China) · CN

Funding

UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MILES Frome WILKINSON · 2003 to 2026
$40.4M
Building on GWAS for NHLBI-disease: the CHARGE consortiumRC2HL102419 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2009 to 2010
$27.6M
Genome-Wide Association Analysis in Essential Hypertension (FEHGAS study)R01HL086694 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI ARAVINDA CHAKRAVARTI · 2007 to 2026
$21.2M
Epidemiology of Venous Thrombosis & Pulmonary EmbolismR01HL059367 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI TANG, WEIHONG · 1998 to 2024
$11.8M
Multi-Ethnic Study of Atherosclerosis (MESA) StudyR01HL071205 · NHLBI · CEDARS-SINAI MEDICAL CENTER · PI ROTTER, JEROME I · 2003 to 2007
$10.4M
Exceptional Survival: Trajectories to Functional Aging (CHS All Stars)R01AG023629 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI NEWMAN, ANNE B. · 2004 to 2016
$9.5M
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
CHS Events Follow-up StudyR01HL080295 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M · 2009 to 2014
$6.3M
CLINICAL PROJECT: Age, Gene/Environment Susceptibility Study on the Multi-omics of Aging: A clinical epidemiologic prospective studyZIAAG007380 · NIA · NATIONAL INSTITUTE ON AGING · PI LAUNER, LENORE J · 2009 to 2025
$6.1M
Rare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6M
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6 · The paper itself

Abstract

backgroundThere is increasing evidence that retinal microvascular diameters are associated with cardiovascular and cerebrovascular conditions. The shared genetic effects of these associations are currently unknown. The aim of this study was to increase our understanding of the genetic factors that mediate retinal vessel size. METHODS AND

resultsThis study extends previous genome-wide association study results using 24 000+ multiethnic participants from 7 discovery cohorts and 5000+ subjects of European ancestry from 2 replication cohorts. Using the Illumina HumanExome BeadChip, we investigate the association of single-nucleotide polymorphisms and variants collectively across genes with summary measures of retinal vessel diameters, referred to as the central retinal venule equivalent and the central retinal arteriole equivalent. We report 4 new loci associated with central retinal venule equivalent, one of which is also associated with central retinal arteriole equivalent. The 4 single-nucleotide polymorphisms are rs7926971 in TEAD1 (P=3.1×10(-) (11); minor allele frequency=0.43), rs201259422 in TSPAN10 (P=4.4×10(-9); minor allele frequency=0.27), rs5442 in GNB3 (P=7.0×10(-10); minor allele frequency=0.05), and rs1800407 in OCA2 (P=3.4×10(-8); minor allele frequency=0.05). The latter single-nucleotide polymorphism, rs1800407, was also associated with central retinal arteriole equivalent (P=6.5×10(-12)). Results from the gene-based burden tests were null. In phenotype look-ups, single-nucleotide polymorphism rs201255422 was associated with both systolic (P=0.001) and diastolic blood pressures (P=8.3×10(-04)).

conclusionsOur study expands the understanding of genetic factors influencing the size of the retinal microvasculature. These findings may also provide insight into the relationship between retinal and systemic microvascular disease.

Indexed as

Genetic LociPolymorphism, Single NucleotideRetinal ArteryRetinal VeinAdultAgedAged, 80 and overAllelesArteriolesDNA-Binding ProteinsFemaleGene FrequencyHumansMaleMiddle AgedNuclear ProteinsDNA-Binding ProteinsNuclear ProteinsTEAD1 protein, humanTEA Domain Transcription FactorsTetraspaninsTranscription FactorsTSPAN10 protein, humanexomegeneticsmeta-analysismicrocirculationretina

Identifiers

PMID26567291
PMCPMC4758888
OpenAlexW2199106471

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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.