GWAS of retinal vessel tortuosity identifies 85 novel loci recovering variants associated with disease
作者： Mattia Tomasoni , Ninon Mounier , Eleonora Porcu , Tanguy Corre , Hana Abouzeid
DOI: 10.1101/2020.06.25.20139725
关键词: Allele 、 Computational biology 、 Disease 、 Population 、 Genome-wide association study 、 Fundus (eye) 、 Trait 、 Genetic architecture 、 Heritability 、 Biology
摘要: Fundus pictures of the eye allow for non-invasive inspection microvasculature system retina which is informative on cardiovascular health. Automated image processing enables extraction morphometric properties this as quantitative features that can be used modelling disease risks. Here we report results largest genome-wide association study (GWAS) retinal vessel tortuosity conducted to date using data from UK Biobank (N=63,899). We identified 87 loci associated with trait (85 are novel). The heritability was h2=0.23 (0.02). carried out a replication small independent population-based cohort, SKIPOGH (N=436). While power too replicate individual hits, effect size estimates correlated significantly between two studies (Pearson correlation r=0.55, p=4.6E-6). showed alleles point common genetic architecture CVD and related traits. Our shed new light genetics risk factors disease.
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