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No gender differences in the frequency of common single nucleotide polymorphisms associated with age-related macular degeneration in two independent cohorts

Tuesday, September 23, 2014 — Poster Session III

12:00 p.m. – 2:00 p.m.

FAES Academic Center



* FARE Award Winner


  • N.A. Popp
  • J. Tuo
  • E.Y. Chew
  • C.C. Chan


Age-related macular degeneration (AMD) is a complex disease with multiple etiologies that affects approximately 6.5% of the population in the United States; in the past, several single nucleotide polymorphisms (SNPs) have been associated with AMD, but they only account for 45-70% of disease heritability. Interestingly, women are more likely to develop AMD than men. To determine whether this gender difference in AMD was related to SNP status, we genotyped patients from two case-control cohorts: the National Eye Institute (NEI; 263 patients/205 controls) and Age-Related Eye Disease Study (AREDS; 276 patients/258 controls). Using Taqman SNP Genotyping assays, we analyzed the most commonly associated AMD SNPs: CFH (rs1061170 and rs380890), HTRA1/ARMS2 (rs11200638), and C3 (rs2230199). We found no observable differences in any of the SNPs studied when categorized by gender. These results suggest that these SNPs do not lead to differential AMD phenotypes between females and males; however, they do not exclude the possibility that other, less common, SNPs contribute to the gender difference found in AMD. As such, further research on this topic with a larger population is warranted.

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