title: No association of age-related maculopathy susceptibility protein 2/HtrA serine peptidase 1 or complement factor H polymorphisms with early age-related maculopathy in a Chinese cohort.
abstract: OBJECTIVE
  Single nucleotide polymorphisms (SNPs) of age-related maculopathy susceptibility protein 2/HtrA serine peptidase 1 (ARMS2/HTRA1) and complement factor H (CFH) have been reported to be associated with age-related macular degeneration (AMD). The purpose of this study was to investigate the association of ARMS2/HTRA1 and CFH SNPs with early age-related maculopathy (ARM) in a Han Chinese cohort.
  
  
  METHODS
  The cohort consisted of 315 unrelated subjects, including 158 patients with early ARM and 157 recruited controls. Early ARM was diagnosed and graded according to the Age-Related Eye Disease Study criteria. Four SNPs in ARMS2/HTRA1 and six SNPs in CFH previously reported to be associated with AMD were genotyped using TaqMan genotyping assays. Logistic regression implemented with the R statistical language was used for association analysis.
  
  
  RESULTS
  None of the ARMS2/HTRA1 and CFH SNPs showed any significant association with early ARM (all p>0.453), with the odds ratios ranging from 0.88 to 1.17. None of the SNPs were associated with unilateral or bilateral early ARM or any grade of early ARM (all p>0.249).
  
  
  CONCLUSIONS
  The association of ARMS2/HTRA1 and CFH SNPs in early ARM was not detected in our cohort. The findings in the current study indicated that the effects of ARMS2/HTRA1 and CFH in early ARM could be much lower compared to those in AMD.
authors.affiliation: Joint Shantou International Eye Center, Shantou University & the Chinese University of Hong Kong, Shantou, China.
authors.forename: Jian-Huan
authors.initials: JH
authors.lastname: Chen
authors.forename: Yunli
authors.initials: Y
authors.lastname: Yang
authors.forename: Yuqian
authors.initials: Y
authors.lastname: Zheng
authors.forename: Minghui
authors.initials: M
authors.lastname: Qiu
authors.forename: Mingliang
authors.initials: M
authors.lastname: Xie
authors.forename: Wenjie
authors.initials: W
authors.lastname: Lin
authors.forename: Mingzhi
authors.initials: M
authors.lastname: Zhang
authors.forename: Chi Pui
authors.initials: CP
authors.lastname: Pang
authors.forename: Haoyu
authors.initials: H
authors.lastname: Chen
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D002681:China / Q000453:epidemiology; D015331:Cohort Studies; D017242:Complement Factor H / Q000235:genetics; D003710:Demography; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008268:Macular Degeneration / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012697:Serine Endopeptidases / Q000235:genetics*
chemical_list: C514392:ARMS2 protein, human; C493495:CFH protein, human; D011506:Proteins; D017242:Complement Factor H; D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases