Genetics of Macular Degeneration

Genetics plays an important role in the development of age-related macular degeneration. We studied gene variations in a large group of elderly women. 

We 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. In a collaborative a study published in 2008 in the American Journal of Epidemiology, we found 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 1⁄4 0.01), and was associated with lower odds of any ARM (for AG vs. GG, odds ratio 1⁄4 0.80, 95% confidence interval: 0.65, 0.99; for AA vs. GG, odds ratio 1⁄4 0.64, 95% confidence interval: 0.42, 0.98). An interaction with use of postmenopausal hormone therapy was significant (p 1⁄4 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.