title: An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population.
abstract: OBJECTIVE
  Single nucleotide polymorphisms (SNPs) in the complement component 1 inhibitor (SERPING1) gene have been shown to be significantly associated with age-related macular degeneration (AMD) in Caucasian populations. A replication study of an association between these SNPs and AMD in a Chinese population is reported in this study.
  
  
  METHODS
  Six SNPs, including rs2511990, rs1005510, rs11546660, rs2511989, rs2511988, and rs4926 in SERPING1 were genotyped in a Han Chinese subject group using the SNaPshot method of ABI. This subject group was composed of 194 patients with choroidal neovascularization (CNV or wet) AMD, 78 patients with soft drusen, and 285 matched controls. P values of the SNPs were calculated using an additive model. Haplotype frequencies between cases and controls were compared by chi2 analysis. The haplotype analysis was performed using Haploview 4.0.
  
  
  RESULTS
  None of the six SNPs showed significant association with AMD. None of the major haplotypes were observed to be significantly associated with AMD or choroidal neovascularization AMD (CNV) after a stringent Bonferroni correction.
  
  
  CONCLUSIONS
  We demonstrate that SNPs in SERPING1 are not significantly associated with AMD in the mainland Han Chinese population.
authors.affiliation: Center for Human Molecular Biology & Genetics, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Sichuan, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Lu
authors.forename: Peiquan
authors.initials: P
authors.lastname: Zhao
authors.forename: Yinchuan
authors.initials: Y
authors.lastname: Fan
authors.forename: Shibo
authors.initials: S
authors.lastname: Tang
authors.forename: Jianbin
authors.initials: J
authors.lastname: Hu
authors.forename: Xiaoqi
authors.initials: X
authors.lastname: Liu
authors.forename: Xian
authors.initials: X
authors.lastname: Yang
authors.forename: Yiye
authors.initials: Y
authors.lastname: Chen
authors.forename: Tao
authors.initials: T
authors.lastname: Li
authors.forename: Chuntao
authors.initials: C
authors.lastname: Lei
authors.forename: Jiyun
authors.initials: J
authors.lastname: Yang
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.forename: Shi
authors.initials: S
authors.lastname: Ma
authors.forename: Chunyong
authors.initials: C
authors.lastname: Li
authors.forename: Yi
authors.initials: Y
authors.lastname: Shi
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human