Inverse association of female hormone replacement therapy with age-related macular degeneration and interactions with ARMS2 polymorphisms

Invest Ophthalmol Vis Sci. 2010 Apr;51(4):1873-9. doi: 10.1167/iovs.09-4000. Epub 2009 Nov 20.

Abstract

Purpose. To investigate whether female reproductive history and hormone replacement therapy (HRT) or birth control pills (BCPs) influence risk for age-related macular degeneration (AMD) and whether genetic factors interact with HRT to modulate AMD risk. Methods. Related and unrelated female participants (n = 799) were examined and data were analyzed with generalized estimating equations with adjustment for age and smoking. Individuals with AMD grades 1 to 2 were considered to be unaffected (n = 239) and those with grades 3 to 5 were considered affected (n = 560). Results. When comparing all cases with controls, significant inverse associations were observed for HRT (odds ratio [OR] = 0.65, 95% CI 0.48-0.90, P = 0.008) and BCPs (OR = 0.60, 95% CI 0.36-0.10, P = 0.048). When analyses were stratified by AMD severity (early versus geographic atrophy versus neovascular), the inverse association remained significant (HRT OR = 0.45, 95% CI 0.30-0.66, P < 0.0001; BCP OR = 0.55, 95% CI 0.32-0.96, P = 0.036) only when comparing neovascular AMD with the control. All pair-wise HRT-genotype and BCP-genotype interactions were examined, to determine whether HRT or BCP modifies the effect of established genetic risk factors. The strongest interactions were observed for HRT x ARMS2 coding SNP (R73H) rs10490923 (P = 0.007) and HRT x ARMS2 intronic SNP rs17623531 (P = 0.019). Conclusions. These findings provide the first evidence suggesting that ARMS2 interacts with HRT to modulate AMD risk and are consistent with previous reports demonstrating a protective relationship between exogenous estrogen use and neovascular AMD. These results highlight the genetic and environmental complexity of the etiologic architecture of AMD; however, further replication is necessary to validate them.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Aged
  • Contraceptives, Oral*
  • Estrogen Replacement Therapy*
  • Estrogens / therapeutic use*
  • Female
  • Genotype
  • Humans
  • Macular Degeneration / genetics
  • Macular Degeneration / prevention & control*
  • Odds Ratio
  • Polymorphism, Single Nucleotide / genetics*
  • Proteins / genetics*
  • Reproductive History*
  • Surveys and Questionnaires

Substances

  • ARMS2 protein, human
  • Contraceptives, Oral
  • Estrogens
  • Proteins