AGE-RELATED MACULAR DEGENERATION PHENOTYPES ASSOCIATED WITH MUTUALLY EXCLUSIVE HOMOZYGOUS RISK VARIANTS IN CFH AND HTRA1 GENES
Elaine W Chong, Fakir M Amirul Islam, Liubov D Robman, Khin Zaw Aung, Andrea J Richardson, Paul N Baird, Robyn H Guymer
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES | LIPPINCOTT WILLIAMS & WILKINS | Published : 2015
PURPOSE: To determine age-related macular degeneration (AMD) phenotypes associated with mutually exclusive homozygotic risk variants in rs1061170 (CFH) and rs11200638 (HTRA1). METHODS: Nested case-control study of 2,982 eyes (2,129 control, 809 drusen ≥125 μm, 44 advanced AMD) homozygous for CFH [TT or CC] and HTRA1 [GG or AA] were analyzed using logistic regression and generalized estimating equations specifically regards to homozygous risk variants in one but homozygous no-risk in the other gene. RESULTS: In early AMD, [CFH HTRA1] and [CFH HTRA1] were associated with central drusen (odds ratio [95% confidence interval] = 4.13 [2.97-5.73] and 3.65 [1.88-7.09], respectively). However, only [..View full abstract
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Awarded by National Health and Medical Research Council of Australia (NHMRC)
Awarded by NHMRC Centre for Clinical Research Excellence
The Melbourne Collaborative Cohort Study was supported by VicHealth, the Cancer Council Victoria, and the National Health and Medical Research Council of Australia (NHMRC program grant 209057, capacity-building grant 251533, and enabling grant 396414). The Ophthalmic Research Institute of Australia, the American Health Assistance Foundation, the John Reid Charitable Trust and the Perpetual Trustees, Perpetual Foundation funded the ophthalmic component. CERA is a recipient of the NHMRC Centre for Clinical Research Excellence Grant 529923 and Operational Infrastructure Support from the Victorian Government. Support was also provided through an NHMRC Practitioner Fellowship to R. H. Guymer, NHMRC Senior Research Fellowship to P. N. Baird, Wagstaff Fellowship to L. D. Robman. The sponsor or funding organization had no role in the design or conduct of this research.