rs10894138 - LINC01395 - TMEM45B

Magnitude 2.2 · 1 study on file

Reported associations

• Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes - Unknown journal (n.d.) · Unknown authors · PubMed 37696869

  ABSTRACT: Neovascular age-related macular degeneration (nAMD), along with its clinical subtype known as polypoidal choroidal vasculopathy (PCV), are among the leading causes of vision loss in elderly Asians. In a genome-wide association study (GWAS) comprising 3,128 nAMD (1,555 PCV and 1,573 typical nAMD), and 5,493 controls of East Asian ancestry, we identify twelve loci, of which four are novel (). Substantial genetic sharing between PCV and typical nAMD is noted (rg = 0.666), whereas collagen extracellular matrix and fibrosis-related pathways are more pronounced for PCV. Whole-exome sequencing in 259 PCV patients revealed functional rare variants burden in collagen type I alpha 1 chain gene (COL1A1; ) and potential enrichment of functional rare mutations at AMD-associated loci. At the

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