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Novel Genetic Locus Influencing Retinal Venular Tortuosity Is Also Associated With Risk of Coronary Artery Disease.

著者 Veluchamy A , Ballerini L , Vitart V , Schraut KE , Kirin M , Campbell H , Joshi PK , Relan D , Harris S , Brown E , Vaidya SS , Dhillon B , Zhou K , Pearson ER , Hayward C , Polasek O , Deary IJ , MacGillivray T , Wilson JF , Trucco E , Palmer CNA , Done
Arterioscler Thromb Vasc Biol.2019 Oct 10 ; ():ATVBAHA119312552.
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The retina may provide readily accessible imaging biomarkers of global cardiovascular health. Increasing evidence suggests variation in retinal vascular traits is highly heritable. This study aimed to identify the genetic determinants of retinal vascular traits. Approach and Results: We conducted a meta-analysis of genome-wide association studies for quantitative retinal vascular traits derived using semi-automatic image analysis of digital retinal photographs from the GoDARTS (Genetics of Diabetes Audit and Research in Tayside; N=1736) and ORCADES (Orkney Complex Disease Study; N=1358) cohorts. We identified a novel genome-wide significant locus at 19q13 () for retinal venular tortuosity (), and one at 13q34 () for retinal arteriolar tortuosity (); these 2 loci were subsequently confirmed in 3 independent cohorts (N=1413). In the combined analysis of discovery and replication cohorts, the lead single-nucleotide polymorphism in / was rs1808382 (β=-0.109; SE=0.015; =2.39×10-) and in was rs7991229 (β=0.103; SE=0.015; =4.66×10-). Notably, the / locus associated with is also associated with coronary artery disease, heart rate, and atrial fibrillation.
PMID: 31597446 [PubMed - as supplied by publisher]
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