ArticlePLoS genetics2010
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
Article in PLoS genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 84 papers, 10 of them syntheses that pooled it.
What it found
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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.
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.
Who cites it
84 citing papers in PubMed, 10 syntheses or guidelines pooled it, 175 citations in OpenAlex.
- Novel Genetic Locus Influencing Retinal Venular Tortuosity Is Also Associated With Risk of Coronary Artery Disease.Arteriosclerosis, thrombosis, and vascular biology · 2019Pooled it
- Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.PLoS genetics · 2016Pooled it
- Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.Nature genetics · 2016Pooled it
- Retinal microvascular calibre and risk of diabetes mellitus: a systematic review and participant-level meta-analysis.Diabetologia · 2015Pooled it
- Association between phosphatase related gene variants and coronary artery disease: case-control study and meta-analysis.International journal of molecular sciences · 2014Pooled it
- Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.PLoS genetics · 2013Pooled it
- Overlap between common genetic polymorphisms underpinning kidney traits and cardiovascular disease phenotypes: the CKDGen consortium.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2013Pooled it
- Pooled it
- Genetic loci for retinal arteriolar microcirculation.PloS one · 2013Pooled it
- Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.The Lancet. Neurology · 2012Pooled it
- Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function.The Journal of clinical investigation · 2017Trial
- Disease-associated microRNA, miR-9-2, regulates timing of retinal progenitor cell competence and maintenance of Müller glial identity.bioRxiv : the preprint server for biology · 2026Article
- Prediction of coronary artery disease using retinal optical coherence tomography angiography imaging and electronic health records: a multimodal machine learning approach.BMC cardiovascular disorders · 2026Article
- Cross-Trait Genome-Wide Association Study Identifies Shared Genetic Architecture Between COPD and Retinal Vascular Phenotypes.International journal of chronic obstructive pulmonary disease · 2026Article
- Development and Validation of Polygenic Scores for Retinal Vessel Calibers.Investigative ophthalmology & visual science · 2025Article
- Comprehensive genome-wide analysis of retinal vessel caliber reveals microvascular-blood pressure pathways: advancing predictive, preventive, and personalized medicine.The EPMA journal · 2025Article
- Multi-omic spatial effects on high-resolution AI-derived retinal thickness.Nature communications · 2025Article
- Phenotypic and genetic characteristics of retinal vascular parameters and their association with diseases.Nature communications · 2024Article
- Genome-wide Association Studies of Retinal Vessel Tortuosity Identify Numerous Novel Loci Revealing Genes and Pathways Associated With Ocular and Cardiometabolic Diseases.Ophthalmology science · 2023Article
- Insights into human health from phenome- and genome-wide analyses of UK Biobank retinal optical coherence tomography phenotypes.medRxiv : the preprint server for health sciences · 2023Article
24 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedXueling, Sim [corrected to Sim, Xueling]
Authors and funding
59 authors at 20 institutions in 7 countries.
Funding
Abstract
There is increasing evidence that the microcirculation plays an important role in the pathogenesis of cardiovascular diseases. Changes in retinal vascular caliber reflect early microvascular disease and predict incident cardiovascular events. We performed a genome-wide association study to identify genetic variants associated with retinal vascular caliber. We analyzed data from four population-based discovery cohorts with 15,358 unrelated Caucasian individuals, who are members of the Cohort for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, and replicated findings in four independent Caucasian cohorts (n = 6,652). All participants had retinal photography and retinal arteriolar and venular caliber measured from computer software. In the discovery cohorts, 179 single nucleotide polymorphisms (SNP) spread across five loci were significantly associated (p<5.0×10(-8)) with retinal venular caliber, but none showed association with arteriolar caliber. Collectively, these five loci explain 1.0%-3.2% of the variation in retinal venular caliber. Four out of these five loci were confirmed in independent replication samples. In the combined analyses, the top SNPs at each locus were: rs2287921 (19q13; p = 1.61×10(-25), within the RASIP1 locus), rs225717 (6q24; p = 1.25×10(-16), adjacent to the VTA1 and NMBR loci), rs10774625 (12q24; p = 2.15×10(-13), in the region of ATXN2,SH2B3 and PTPN11 loci), and rs17421627 (5q14; p = 7.32×10(-16), adjacent to the MEF2C locus). In two independent samples, locus 12q24 was also associated with coronary heart disease and hypertension. Our population-based genome-wide association study demonstrates four novel loci associated with retinal venular caliber, an endophenotype of the microcirculation associated with clinical cardiovascular disease. These data provide further insights into the contribution and biological mechanisms of microcirculatory changes that underlie cardiovascular disease.
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Registered trials
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.