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R. Seitzman, A.L. Coleman, V.B. Mahajan, F. Yu, J. Cauley, K. Ensrud, T. Hillier, K. Stone, C. Mangione, Study of Osteoporotic Fractures Research Group; Estrogen Receptor Alpha Polymorphisms and Age–Related Maculopathy in Older Caucasian Women . Invest. Ophthalmol. Vis. Sci. 2006;47(13):2200.
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In previous analyses we found bone mineral density to be protective against age–related maculopathy (ARM) in women 75 years of age and older. Several studies have shown three polymorphisms in the estrogen receptor alpha (ESR1) gene (–401 T/C, –354 A/G, +975 C/G) to be associated with bone mineral density. Thus, the purpose of the present study is to determine whether these three polymorphisms in the estrogen receptor alpha (ESR1) gene are associated with age–related maculopathy (ARM) in women 75 years of age and older.
Study subjects comprised a random sample of Caucasian women age 75 years and older who attended the year 10 clinic visit (visit 6) of the Study of Osteoporotic Fractures (SOF) in 1997–1998 (n=1274). Fundus photographs were graded for ARM using a modification of the Wisconsin Age–Related Maculopathy Grading System 6–level severity scale. Early ARM was defined by the presence of at least one of the following conditions in at least one eye without the presence of late ARM in either eye: soft drusen (≥95 microns) with either 1) drusen area <960 microns and RPE depigmentation; or 2) drusen area ≥960 microns with or without pigmentary abnormalities. Late ARM was defined by sub–foveal geographic atrophy and/or exudative macular degeneration in at least one eye. Subjects were genotyped for three ESR1 single nucleotide polymorphisms (SNPs) (A984G, C1335G, T938C) by linear array, kinetic thermal cycling, or DNA sequencing. Each ESR1 SNP was analyzed independently for its association with early and late ARM by comparing genotype frequencies using Fisher’s exact tests.
Among 1274 subjects in the random sample, data for at least one ESR1 polymorphism was available for 953. Of those, AMD status was known for 903, with 45.6% (n=412) having early ARM, and 3.6% (n=33) having late ARM. There were no statistically significant differences in genotype frequencies among the polymorphisms for either early or late ARM.
Three estrogen receptor alpha polymorphisms do not appear to be associated with early or late ARM in older women.
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