Journal article

Exploring the contribution of ARMS2 and HTRA1 genetic risk factors in age-related macular degeneration

Y Pan, Y Fu, PN Baird, RH Guymer, T Das, T Iwata

Progress in Retinal and Eye Research | Published : 2023

Abstract

Age-related macular degeneration (AMD) is the leading cause of severe irreversible central vision loss in individuals over 65 years old. Genome-wide association studies (GWASs) have shown that the region at chromosome 10q26, where the age-related maculopathy susceptibility (ARMS2/LOC387715) and HtrA serine peptidase 1 (HTRA1) genes are located, represents one of the strongest associated loci for AMD. However, the underlying biological mechanism of this genetic association has remained elusive. In this article, we extensively review the literature by us and others regarding the ARMS2/HTRA1 risk alleles and their functional significance. We also review the literature regarding the presumed fun..

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University of Melbourne Researchers

Grants

Awarded by Australia-India Strategic Research Fund


Funding Acknowledgements

This work has been supported by research grant to T.I. by the Japan Agency for Medical Research and Development (17-19ek0109282h0003, 16ek0109072h0002), Japanese Ministry of Health, Labor and Welfare (H23-Kankaku-Ippan-003, H21-Nanchi-Ippan-069, H21-Seisakusouyaku-Ippan-002) and the Japan Society for the Promotion of Science (JSPS, 26293377) Bilateral Program (2006-2007), National Hospital Organization of Japan Grant, the Japanese Smoking Research Foundation. This work was also supported by T.I. and members of Iwata laboratory by JSPS (15K10887, 23890258, 24592664, 22791703, 21791728, 20191290, 20791291). P.N.B. has been supported for this work through the Department of Science & Technology and Australia-India Strategic Research Fund (AISRF) jointly funded through the Department of Biotechnology (DBT) and Government of Australia (P.N.B.), the National Health & Medical Research Council of Australia (NHMRC) project grant 1009879 and Research Fellowships 1028444, 1138585 and 1194667. Y.F. was supported by NIH grant 5R01EY022901, 2P30EY002520(Baylor College of Medicine), 5P30EY014800 (University of Utah), the Dana and Gil Petri Research grant from Retinal Research Foundation, the Boyd and Evelyn Mullen Foundation, and the Sarah Campbell Blaffer Endowment in Ophthalmology, the Career Development Award from Research to Prevent Blindness (RPB), C. M. Reeves & M. A. Reeves Foundation, Moran Center for Translational Medicine, unrestricted grants to the Department of Ophthalmology at the University of Utah and the Department of Ophthalmology at Baylor College of Medicine from RPB. T.D. was funded by the Hyderabad Eye Research Foundation, Hyderabad, India. Y.P. was supported by the JSPS KAKENHI Grant Number 20K18366.