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

Robin L. Seitzman, Vinit B. Mahajan, Carol Mangione, Jane A. Cauley, Kristine E. Ensrud, Katie L. Stone, Steven R. Cummings, Marc C. Hochberg, Teresa A. Hillier, Janet S. Sinsheimer, Fei Yu, Anne L. Coleman

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24 Scopus citations


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 ≥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.

Original languageEnglish (US)
Pages (from-to)1217-1225
Number of pages9
JournalAmerican journal of epidemiology
Issue number10
StatePublished - May 2008


  • Estrogen receptor alpha
  • Macular degeneration
  • Matrix metalloproteinase 2
  • Polymorphism, single nucleotide


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