Article
CRISPR editing demonstrates rs10490924 raised oxidative stress in iPSC-derived retinal cells from patients with ARMS2/HTRA1-related AMD.
Proceedings of the National Academy of Sciences of the United States of America - 9 May 2023
Chang Ya-Ju, Jenny Laura A, Li Yong-Shi, Cui Xuan, Kong Yang, Li Yao, Sparrow Janet R, Tsang Stephen H
Abstract excerpt
Genome-wide association studies (GWAS) have identified genetic risk loci for age-related macular degeneration (AMD) on the chromosome 10q26 (Chr10) locus and are tightly linked: the A69S (G>T) rs10490924 single-nucleotide variant (SNV) and the AATAA-rich insertion-deletion (indel, del443/ins54), which are found in the age-related maculopathy susceptibility 2 (ARMS2) gene, and the G512A (G>A) rs11200638 SNV, which...
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