title: Lack of association of CFD polymorphisms with advanced age-related macular degeneration.
abstract: OBJECTIVE
  Age-related macular degeneration (AMD) is the most common cause of irreversible central vision loss worldwide. Research has linked AMD susceptibility with dysregulation of the complement cascade. Typically, complement factor H (CFH), complement factor B (CFB), complement component 2 (C2), and complement component 3 (C3) are associated with AMD. In this paper, we investigated the association between complement factor D (CFD), another factor of the complement system, and advanced AMD in a Caucasian population.
  
  
  METHODS
  Six single nucleotide polymorphisms (SNPs), rs1683564, rs35186399, rs1683563, rs3826945, rs34337649, and rs1651896, across the region covering CFD, were chosen for this study. One hundred and seventy-eight patients with advanced AMD and 161 age-matched normal controls were genotyped. Potential positive signals were further tested in another independent 445 advanced AMD patients and 190 controls. χ2 tests were performed to compare the allele frequencies between case and control groups.
  
  
  RESULTS
  None of the six SNPs of CFD was found to be significantly associated with advanced AMD in our study.
  
  
  CONCLUSIONS
  Our findings suggest that CFD may not play a major role in the genetic susceptibility to AMD because no association was found between the six SNPs analyzed in the CFD region and advanced AMD.
authors.affiliation: Department of Ophthalmology, Second Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Jiexi
authors.initials: J
authors.lastname: Zeng
authors.forename: Yuhong
authors.initials: Y
authors.lastname: Chen
authors.forename: Zongzhong
authors.initials: Z
authors.lastname: Tong
authors.forename: Xinrong
authors.initials: X
authors.lastname: Zhou
authors.forename: Chao
authors.initials: C
authors.lastname: Zhao
authors.forename: Kevin
authors.initials: K
authors.lastname: Wang
authors.forename: Guy
authors.initials: G
authors.lastname: Hughes
authors.forename: Daniel
authors.initials: D
authors.lastname: Kasuga
authors.forename: Matthew
authors.initials: M
authors.lastname: Bedell
authors.forename: Clara
authors.initials: C
authors.lastname: Lee
authors.forename: Henry
authors.initials: H
authors.lastname: Ferreyra
authors.forename: Igor
authors.initials: I
authors.lastname: Kozak
authors.forename: Weldon
authors.initials: W
authors.lastname: Haw
authors.forename: Jean
authors.initials: J
authors.lastname: Guan
authors.forename: Robert
authors.initials: R
authors.lastname: Shaw
authors.forename: William
authors.initials: W
authors.lastname: Stevenson
authors.forename: Paul D
authors.initials: PD
authors.lastname: Weishaar
authors.forename: Mark H
authors.initials: MH
authors.lastname: Nelson
authors.forename: Luosheng
authors.initials: L
authors.lastname: Tang
authors.forename: Kang
authors.initials: K
authors.lastname: Zhang
mesh_terms: D001483:Base Sequence; D011416:Complement Factor D / Q000235:genetics*; D003170:Complement Pathway, Alternative / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology*; D008875:Middle Aged; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D011416:Complement Factor D