April 2009
Volume 50, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2009
Evaluation on the Association of the Variants in Complement Component 5 Gene and Age Related Macular Degeneration
Y. Chen; C. Zhao; B. Li; X. Sun; Z. Yang; K. Zhang
Author Affiliations & Notes
  • Y. Chen
    Ophthalmology, Shiley Eye Center, San Diego, California
    Ophthalmology, Moran Eye Center, Salt Lake City, Utah
  • C. Zhao
    Ophthalmology, Shiley Eye Center, San Diego, California
    Ophthalmology, Moran Eye Center, Salt Lake City, Utah
  • B. Li
    Ophthalmology, Shiley Eye Center, San Diego, California
  • X. Sun
    Ophthalmology, Shiley Eye Center, San Diego, California
    Ophthalmology, Moran Eye Center, Salt Lake City, Utah
  • Z. Yang
    Ophthalmology, Shiley Eye Center, San Diego, California
    Ophthalmology, Moran Eye Center, Salt Lake City, Utah
  • K. Zhang
    Ophthalmology, Shiley Eye Center, San Diego, California
    Ophthalmology, Moran Eye Center, Salt Lake City, Utah
  • Footnotes
    Commercial Relationships  Y. Chen, None; C. Zhao, None; B. Li, None; X. Sun, None; Z. Yang, None; K. Zhang, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 3440. doi:
  • Views
  • Share
  • Tools
    • Alerts
      User Alerts
      You are adding an alert for:
      Evaluation on the Association of the Variants in Complement Component 5 Gene and Age Related Macular Degeneration
      You will receive an email whenever this article is corrected, updated, or cited in the literature. You can manage this and all other alerts in My Account
      The alert will be sent to:
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation
      Citation

      Y. Chen, C. Zhao, B. Li, X. Sun, Z. Yang, K. Zhang; Evaluation on the Association of the Variants in Complement Component 5 Gene and Age Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2009;50(13):3440.

      Download citation file:

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

      ×
    • Get Permissions
  • Supplements
Abstract

Purpose: : Dysregulation of complement cascade has been implicated in the pathogenetic mechanisms of age related macular degeneration (AMD). Significant association between AMD and several complement associated genes including complement factor H (CFH), complement component 2 (C2), complement component 3 (C3), and complement factor B (CFB) were demonstrated. Complement component 5 (C5) is a key regulator of final pathway of complement cascade. The aim of this study is to evaluate the association of variants in C5 and AMD.

Methods: : Unrelated AMD patients (n=335), including neovascular AMD (n=171) and Geographic Atrophy (n=164), and age-matched control subjects (n=186) were analyzed for six single nucleotide polymorphisms (SNPs) in C5: rs10733650, rs2416811, rs7031128, rs3815467, rs17216529, rs10739585, rs17611. SNPs were selected with minor allele frequency (MAF) >5% in Caucasian population. Genotyping was undertaken on a multiplexed SNaPshot technology platform (ABI). Association analysis was performed using Pearson’s X2 test.

Results: : All SNPs showed similar allele frequencies in both cases and controls. No statistic significant association was observed between C5 and AMD: rs10733650 (MAF=0.42 in case and 0.41 in control, Pallele=0.68), rs2416811 (MAF= 0.44 in case and 0.45 in control, Pallele =0.77), rs7031128 (MAF=0.23 in case and 0.22 in control, Pallele =0.55), rs3815467 (MAF=0.20 in case and 0.22 in control, Pallele =0.38), rs17216529 (MAF=0.06 in case and 0.08 in control, Pallele =0.20), rs10739585 (MAF=0.24 in case and 0.26 in control, Pallele =0.36). Subgroup analysis did not show any association either when comparing neovascular AMD and Geographic Atrophy with controls separately.

Conclusions: : In our preliminary analysis of a small cohort of patients, variations in C5 do not contribute to a major risk of AMD. Genotyping more SNPs with better coverage and investigation of possible allelic and haplotype interactions may further clarify the role of C5 in AMD risk.

Keywords: age-related macular degeneration • genetics 
© 2009, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
×
×

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.

×
This site uses cookies. By continuing to use our website, you are agreeing to our privacy policy.Accept