Article
Chromosome 10q26-driven age-related macular degeneration is associated with reduced levels of HTRA1 in human retinal pigment epithelium.
Proceedings of the National Academy of Sciences of the United States of America - 27 Jul 2021
Williams Brandi L, Seager Nathan A, Gardiner Jamie D, Pappas Chris M, Cronin Monica C, Amat di San Filippo Cristina, Anstadt Robert A, Liu Jin, Toso Marc A, Nichols Lisa, Parnell Timothy J, Eve Jacqueline R, Heinz Sven, Hayes Michael G B, Bartel Paul L, Zouache Moussa A, Richards Burt T, Hageman Gregory S
Abstract excerpt
Genome-wide association studies have identified the chromosome 10q26 (Chr10) locus, which contains the age-related maculopathy susceptibility 2 (ARMS2) and high temperature requirement A serine peptidase 1 (HTRA1) genes, as the strongest genetic risk factor for age-related macular degeneration (AMD) [L.G. Fritsche et al., Annu. Rev. Genomics Hum. Genet. 15, 151-171, (2014)]. To date, it has been difficult to...
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