March 2012
Volume 53, Issue 14
Free
ARVO Annual Meeting Abstract  |   March 2012
Assessment Of Interaction Between Smoking And The LOC387715 (ARMS2)/HTRA1 Genes In Risk Of Age-related Macular Degeneration (AMD)
Author Affiliations & Notes
  • Paul N. Baird
    Ctr for Eye Res-Australia, University of Melbourne, Melbourne, Australia
  • Madeleine K. Adams
    Ctr for Eye Res-Australia, University of Melbourne, Melbourne, Australia
  • Andrea J. Richardson
    Ctr for Eye Res-Australia, University of Melbourne, Melbourne, Australia
  • Khin Zaw Aung
    Ctr for Eye Res-Australia, University of Melbourne, Melbourne, Australia
  • Galina A. Makeyeva
    Ctr for Eye Res-Australia, University of Melbourne, Melbourne, Australia
  • Graham Giles
    Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia
  • Dallas R. English
    Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia
    Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, The University of Melbourne, Melbourne, Australia
  • John L. Hopper
    Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, The University of Melbourne, Melbourne, Australia
  • Robyn H. Guymer
    Ctr for Eye Res-Australia, University of Melbourne, Melbourne, Australia
  • Luba D. Robman
    Ctr for Eye Res-Australia, University of Melbourne, Melbourne, Australia
  • Footnotes
    Commercial Relationships  Paul N. Baird, None; Madeleine K. Adams, None; Andrea J. Richardson, None; Khin Zaw Aung, None; Galina A. Makeyeva, None; Graham Giles, None; Dallas R. English, None; John L. Hopper, None; Robyn H. Guymer, None; Luba D. Robman, None
  • Footnotes
    Support  NHMRC Australia, ViC Heatlh, Cancer Council of Australia, Ophthalmic Research Institute Australia, American Health Foundation
Investigative Ophthalmology & Visual Science March 2012, Vol.53, 3318. doi:https://doi.org/
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      Paul N. Baird, Madeleine K. Adams, Andrea J. Richardson, Khin Zaw Aung, Galina A. Makeyeva, Graham Giles, Dallas R. English, John L. Hopper, Robyn H. Guymer, Luba D. Robman; Assessment Of Interaction Between Smoking And The LOC387715 (ARMS2)/HTRA1 Genes In Risk Of Age-related Macular Degeneration (AMD). Invest. Ophthalmol. Vis. Sci. 2012;53(14):3318. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : To evaluate interaction between smoking and the LOC387715/HTRA1 genes in risk of Age-related Macular Degeneration (AMD) in a large non-clinic based Australian cohort.

Methods: : Nested genetic case-control study of 2294 cases and 2294 controls (matched on age, sex and country of birth from the Melbourne Collaborative Cohort Study aged 48-86 years at follow up (2003-2007). Participant’s smoking habit (never, previous, current) was estimated from a structured interview at baseline in 1990-94. At follow up during 2003-07, digital macula photographs of both eyes were taken and evaluated for signs of early AMD. Genotyping of single nucleotide polymorphisms (SNPs) rs10490924 and rs3793917 in LOC387715 (ARMS2) and rs11200638 in the HTRA1 gene was undertaken. Statistical analysis was performed using logistic regression and likelihood ratio tests in STATA.

Results: : Genotypes were significantly associated with an increased risk of early AMD, odds ratio (OR) (OR 1.47, 95% confidence intervals (95%CI), 1.30, 1.67 and OR 2.86, 95%CI 2.14, 3.82) for one and two copies of the T risk allele respectively for the rs10490924 SNP of LOC387715/ARMS2 and (OR 1.46, 95%CI 1.29, 1.66 and OR 2.05, 95%CI 1.59, 2.64) for one and two copies of the A risk allele respectively for the rs11200638 SNP of the HTRA1 gene, and smoking was significantly associated with early AMD (P=0.04) having adjusted for sex, age, country of birth, educational level, energy intake, waist-to-hip ratio, and known cardiovascular disease or diabetes. However, no significant multiplicative interaction between genotypes and smoking was observed in this cohort (p>0.05).

Conclusions: : These findings support the association of genetic variants at the LOC387715 (ARMS2)/HTRA1 gene region in increased risk of early AMD in a large non clinic based study. This study finds that although smoking is associated with increased risk in AMD, there is no observable gene-environment multiplicative interaction for smoking at this locus. These findings suggest that both risk factors are associated with early AMD independently.

Keywords: age-related macular degeneration • genetics 
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