Estrogen receptor alpha and matrix metalloproteinase 2 polymorphisms and age-related maculopathy in older women.
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.
Seitzman
Robin L
RL
Department of Ophthalmology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 92122, USA. seitzman@ucla.edu
Mahajan
Vinit B
VB
Mangione
Carol
C
Cauley
Jane A
JA
Ensrud
Kristine E
KE
Stone
Katie L
KL
Cummings
Steven R
SR
Hochberg
Marc C
MC
Hillier
Teresa A
TA
Sinsheimer
Janet S
JS
Yu
Fei
F
Coleman
Anne L
AL
D000368:Aged; D000369:Aged, 80 and over; D015986:Confounding Factors, Epidemiologic; D047628:Estrogen Receptor alpha / Q000235:genetics*; D015914:Estrogen Replacement Therapy; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D015663:Osteoporosis, Postmenopausal; D010857:Pigment Epithelium of Eye / Q000473:pathology; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012720:Severity of Illness Index
D047628:Estrogen Receptor alpha; C522361:MMP2 protein, human; D020778:Matrix Metalloproteinase 2