Estrogen receptor alpha and matrix metalloproteinase 2 polymorphisms and age-related maculopathy in older women

Am J Epidemiol. 2008 May 15;167(10):1217-25. doi: 10.1093/aje/kwn024. Epub 2008 Mar 20.

Abstract

In this study, the authors sought to determine whether single nucleotide polymorphisms in the estrogen receptor alpha (ESR1) and matrix metalloproteinase 2 (MMP2) genes are associated with age-related maculopathy (ARM) in older women. Subjects comprised a random sample of Caucasian women aged > or =74 years participating in the Study of Osteoporotic Fractures year 10 follow-up (n = 906) in 1997-1998. Fundus photographs were graded for ARM using a modification of the Wisconsin Age-Related Maculopathy Grading System. The prevalences of early ARM and late ARM were 46% and 4%, respectively. The MMP2 rs2287074 single nucleotide polymorphism (G-->A) was associated with ARM. The A allele was present in 47%, 43%, and 30% of subjects with no, early, and late ARM, respectively (p = 0.01), and was associated with lower odds of any ARM (for AG vs. GG, odds ratio = 0.80, 95% confidence interval: 0.65, 0.99; for AA vs. GG, odds ratio = 0.64, 95% confidence interval: 0.42, 0.98). An interaction with use of postmenopausal hormone therapy was significant (p = 0.02). The MMP2 rs2287074 A allele may be associated with a lower likelihood of ARM in older Caucasian women, particularly those who have never used hormone therapy. The role of MMP2 rs2287074 in ARM should be further elucidated.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Confounding Factors, Epidemiologic
  • Estrogen Receptor alpha / genetics*
  • Estrogen Replacement Therapy
  • Female
  • Gene Frequency
  • Genetic Linkage
  • Genotype
  • Humans
  • Logistic Models
  • Macular Degeneration / genetics*
  • Macular Degeneration / pathology
  • Matrix Metalloproteinase 2 / genetics*
  • Osteoporosis, Postmenopausal
  • Pigment Epithelium of Eye / pathology
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Severity of Illness Index

Substances

  • Estrogen Receptor alpha
  • MMP2 protein, human
  • Matrix Metalloproteinase 2