Can genetic associations change with age? CFH and age-related macular degeneration

MKM Adams; JA Simpson; AJ Richardson; RH Guymer; E Williamson; S Cantsilieris; DR English; KZ Aung; GA Makeyeva; GG Giles; J Hopper; LD Robman; PN Baird

Journal article

Can genetic associations change with age? CFH and age-related macular degeneration

MKM Adams, JA Simpson, AJ Richardson, RH Guymer, E Williamson, S Cantsilieris, DR English, KZ Aung, GA Makeyeva, GG Giles, J Hopper, LD Robman, PN Baird

Human Molecular Genetics | Published : 2012

DOI: 10.1093/hmg/dds364

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Abstract

Genetic variation in the gene encoding complement factor H (CFH) on chromosome 1q31 has repeatedly been associated with an increased risk of age-related macular degeneration (AMD); however, previous studies have had inadequate numbers of participants across a sufficiently wide age range to determine whether the association varies by age. We conducted a genetic case-control study using data from 2294 cases and 2294 controls selected from the Melbourne Collaborative Cohort Study, matched on age, sex and region of origin. Four consistently replicated CFH single-nucleotide polymorphisms (SNPs) were genotyped: rs1061170 (Y402H), rs2274700, rs393955 and rs800292; their relationship with AMD preval..

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University of Melbourne Researchers

Julie Simpson Author

Robyn Guymer Author

Dallas English Author

Graham Giles Author

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Funding Acknowledgements

This work was supported by VicHealth, the Cancer Council Victoria (initial cohort recruitment) and the National Health and Medical Research Council of Australia (NHMRC) (program grant 209057, capacity building grant 251533 and enabling grant 396414). The ophthalmic component was funded by the Ophthalmic Research Institute of Australia, American Health Assistance Foundation, John Reid Charitable Trust, Perpetual Trustees and the Royal Victorian Eye and Ear Hospital. People support was provided through the NHMRC Practitioner Fellowship to R. H. G., Wagstaff Fellowship to L. D. R. and an NHMRC PhD. Scholarship and Hugh Noel Puckle Scholarship to M. K. M. A. NHMRC Research Fellowship to P.N.B. and J.H. The Centre for Eye Research Australia (CERA) receives operational infrastructure support from the Victorian Government. The funding organizations did not have any involvement in study design and data collection, analysis and interpretation.