April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Difference between Polypoidal Choroidal Vasculopathy and Age-Related Macular Degeneration in the hereditary contribution of three variants of the complement fctor H(CFH) in Chinese Han people
Author Affiliations & Notes
  • luzhen huang
    People's hospital of Peking University, Beijing, China
  • Yaoyao Sun
    People's hospital of Peking University, Beijing, China
  • Chiea chuen Khor
    Singapore Eye Research Institute, Singapore, Singapore
  • Xiaoxin Li
    People's hospital of Peking University, Beijing, China
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 2226. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      luzhen huang, Yaoyao Sun, Chiea chuen Khor, Xiaoxin Li; Difference between Polypoidal Choroidal Vasculopathy and Age-Related Macular Degeneration in the hereditary contribution of three variants of the complement fctor H(CFH) in Chinese Han people. Invest. Ophthalmol. Vis. Sci. 2014;55(13):2226.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose: To investigate whether three variants in complement factor H gene contributed differently in patients with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) of Chinese descent.

Methods: We performed a case-control study in a group of Chinese patients with nAMD (n=300) or PCV (n=300) and in an independent control group-300 cataract patients without age-related maculopathy. Association analysis of allele and genotype frequencies was performed for the following haplotype-tagging single nucleotide polymorphisms (htSNPs): rs800292, rs2274700 and rs1065489. Multinomial logistic regression analyses were performed to estimate and compare the effect of these three CFH polymorphisms on AMD and PCV, using the AA (wild-type) genotype as reference.

Results: CFH rs2274700 and rs800292 were significantly associated with the risk of nAMD in our Chinese cohorts (P=3.4 10e-4, OR=0.64; P=2.3 10e-3, OR=0.69). Rs1065489 were found not associated with nAMD (P=0.14). All the three SNPs (rs2274700, rs800292 and rs1065489) were significantly associated with the risk of PCV (P=3.78 10e-7, OR=0.53; P=5.62 10e-8; P= 1.2 10e-4, OR=0.64, respectively). For rs800292 and rs1065489, the p-value of heterogeneity between the associations observed for nAMD and PCV were 0.065 and 0.099 respectively

Conclusions: This finding provides further insight into the underlying genetic character and biologic pathophysiology of the development of nAMD and PCV. We suggested although the complement pathway contributed to the development of nAMD and PCV, the different genetics effects of CFH combined with or without another genetic background may contribute to the maturation of the vessels to present different clinical pictures

Keywords: 412 age-related macular degeneration • 537 gene screening  
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×