A rare functional haplotype of the P2RX4 and P2RX7 genes leads to loss of innate phagocytosis and confers increased risk of age-related macular degeneration

BJ Gu; PN Baird; KA Vessey; KK Skarratt; EL Fletcher; SJ Fuller; AJ Richardson; RH Guymer; JS Wiley

Journal article

A rare functional haplotype of the P2RX4 and P2RX7 genes leads to loss of innate phagocytosis and confers increased risk of age-related macular degeneration

BJ Gu, PN Baird, KA Vessey, KK Skarratt, EL Fletcher, SJ Fuller, AJ Richardson, RH Guymer, JS Wiley

FASEB Journal | FEDERATION AMER SOC EXP BIOL | Published : 2013

DOI: 10.1096/fj.12-215368

Abstract

Age-related macular degeneration (AMD) is a leading cause of blindness in Western countries and is diagnosed by the clinical appearance of yellow subretinal deposits called drusen. Genetic changes in immune components are clearly implicated in the pathology of this disease. We have previously shown that the purinergic receptor P2X7 can act as a scavenger receptor, mediating phagocytosis of apoptotic cells and insoluble debris. We performed a genetic association study of functional polymorphisms in the P2RX7 and P2RX4 genes in a cohort of 744 patients with AMD and 557 age-matched Caucasian control subjects. The P2X4 Tyr315Cys variant was 2-fold more frequent in patients with AMD compared to c..

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University of Melbourne Researchers

Paul Baird Author

Kirstan Vessey Author

Erica Fletcher Author

Robyn Guymer Author

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Grants

Awarded by Australian National Health and Medical Research Council (NHMRC)

Awarded by Centre for Clinical Research Excellence

Awarded by Australian Research Council

Funding Acknowledgements

This study was supported by Australian National Health and Medical Research Council (NHMRC) project grants 1048082, 633275, and 566814; Centre for Clinical Research Excellence grant 529923 (Translational Clinical Research in Major Eye Diseases); an American Health Assistance Foundation, Macular Degeneration Research grant to E. L. F.; Australian Research Council Future Fellowship FT120100581 to B.J.G.; NHMRC Practitioner Fellowship 529905 to R. H. G.; and NHMRC Senior Research Fellowship 1028444 to P.N.B. Centre for Eye Research Australia receives operational infrastructure support from the Victorian government.