Genome-wide Association Studies of Retinal Vessel Tortuosity Identify Numerous Novel Loci Revealing Genes and Pathways Associated With Ocular and Cardiometabolic Diseases.

Specifically, we identified a cluster of highly significant genes on chromosome 19, including ACTN4 (related to actin filament bundling), TNS1 (cross-linking of actin filaments), and CAPN12 (involved in structural integrity to blood vessel walls).

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We considered SNPs to be nominally significant if their P -value was below the classical Bonferroni threshold of 5 × 10 −8 (i.e., correcting for an estimated 1 million of independent SNPs).

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