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

Journal article

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

DOI: 10.1097/IAE.0000000000000417

Abstract

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

University of Melbourne Researchers

Paul Baird Author Ophthalmology Eye and Ear Hospital

Robyn Guymer Author Ophthalmology Eye and Ear Hospital

Elaine Chong Author Ophthalmology Eye and Ear Hospital

F M Amirul Islam Author Ophthalmology Eye and Ear Hospital

Related Projects (4)

THE HEALTH 2020 COHORT STUDY (HEALTH 2020)

Our aim is to develop appropriate infrastructures necessary to facilitate access by researchers to the accumulated data, including questionn..

Epidemiology of chronic disease, health interventions and DNA studies

nan

PLATYPUS

This proposal builds on the applicants’ experience with existing large prospective studies and on studies of families of patients with bowel..

Epidemiology of chronic disease, health interventions and DNA studies

nan

Grants

Awarded by National Health and Medical Research Council of Australia (NHMRC)

Awarded by NHMRC Centre for Clinical Research Excellence

Funding Acknowledgements

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.