rs114333437 - GOLGA8M, GOLGA8M

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-wide association study reveals genetic architecture and evolution of human retinal pigmentation - Unknown journal (n.d.) · Unknown authors · PubMed 41477839

  ABSTRACT: Pigmentation varies widely across humans and is shaped by melanin quantity, type, and spatial distribution. Retinal pigmentation protects against light-induced damage, yet its genetic and evolutionary bases remain unclear. We developed a deep learning framework (DeepGRP) to quantify retinal pigmentation from high-resolution fundus images and conducted a genome-wide association study (GWAS), identifying 42 signals, including 26 previously unidentified loci, with single-nucleotide polymorphism-based heritability of 21.4%. Single-nucleus assay for transposase-accessible chromatin by sequencing and RNA sequencing of human fetal retinal tissues revealed key cellular contributors, including retinal pigment epithelium and photoreceptor cells. Among candidate genes, ARHGAP18 emerged as

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