Investigating the Role of HTRA1 in Developing AMD: Brandi L. Williams, PhD


The research director at the Moran Eye Center discussed the genetics of developing age-related macular degeneration.

“We were really at the beginning of this trying to understand what this locus does that's associated with risk for AMD. We decided to use our donor repository to look at the expression of the genes that are in that locus, which are ARMS2 and HTRA1. So, we used human retina tissue and human RP choroid tissue, both in the macula and extra macular regions and used that to look at the expression of those genes.”

Researchers from the Moran Eye Center investigated the role of the HTRA1 and ARMS2 genes on loci on chromosomes 1 and 10 in developing age-related macular degeneration (AMD). Their findings elucidated the role of the genes, running contrary to previous thinking.

GeneTherapyLive spoke with Brandi. L Williams, PhD, research director, and Gregory S. Hageman, PhD, executive director, Steele Center for Translational Medicine, both from the John A. Moran Eye Center, to learn more about the research and what led them to conduct it.

Williams and Hageman discussed the paper, recently published in PNAS, and how their findings led them to conclude that HTRA1 expression was associated with reduced risk of developing AMD and not increased risk.

Williams BL, Seager NA, Gardiner JD, et al. Chromosome 10q26–driven age-related macular degeneration is associated with reduced levels of HTRA1 in human retinal pigment epithelium. PNAS. 2021;118(30) e2103617118. doi:10.1073/pnas.2103617118
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