title: Association between the SERPING1 gene and age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese.
abstract: OBJECTIVE
  Recently, a complement component 1 inhibitor (SERPING1) gene polymorphism was identified as a novel risk factor for age-related macular degeneration (AMD) in Caucasians. We aimed to investigate whether variations in SERPING1 are associated with typical AMD or with polypoidal choroidal vasculopathy (PCV) in a Japanese population.
  
  
  METHODS
  We performed a case-control study in a group of Japanese patients with typical AMD (n = 401) or PCV (n = 510) and in 2 independent control groups--336 cataract patients without age-related maculopathy and 1,194 healthy Japanese individuals. Differences in the observed genotypic distribution between the case and control groups were tested using chi-square test for trend. Age and gender were adjusted using logistic regression analysis.
  
  
  RESULTS
  We targeted rs2511989 as the haplotype-tagging single nucleotide polymorphism (SNP) for the SERPING1 gene, which was reported to be associated with the risk of AMD in Caucasians. Although we compared the genotypic distributions of rs2511989 in typical AMD and PCV patients against 2 independent control groups (cataract patients and healthy Japanese individuals), SERPING1 rs2511989 was not significantly associated with typical AMD (P = 0.932 and 0.513, respectively) or PCV (P = 0.505 and 0.141, respectively). After correction for age and gender differences based on a logistic regression model, the difference in genotypic distributions remained insignificant (P>0.05). Our sample size had a statistical power of more than 90% to detect an association of a risk allele with an odds ratio reported in the original studies for rs2511989 for developing AMD.
  
  
  CONCLUSIONS
  In the present study, we could not replicate the reported association between SERPING1 and either neovascular AMD or PCV in a Japanese population; thus, the results suggest that SERPING1 does not play a significant role in the risk of developing AMD or PCV in Japanese.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Isao
authors.initials: I
authors.lastname: Nakata
authors.forename: Kenji
authors.initials: K
authors.lastname: Yamashiro
authors.forename: Ryo
authors.initials: R
authors.lastname: Yamada
authors.forename: Norimoto
authors.initials: N
authors.lastname: Gotoh
authors.forename: Hideo
authors.initials: H
authors.lastname: Nakanishi
authors.forename: Hisako
authors.initials: H
authors.lastname: Hayashi
authors.forename: Akitaka
authors.initials: A
authors.lastname: Tsujikawa
authors.forename: Atsushi
authors.initials: A
authors.lastname: Otani
authors.forename: Masaaki
authors.initials: M
authors.lastname: Saito
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Iida
authors.forename: Akio
authors.initials: A
authors.lastname: Oishi
authors.forename: Keitaro
authors.initials: K
authors.lastname: Matsuo
authors.forename: Kazuo
authors.initials: K
authors.lastname: Tajima
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Matsuda
authors.forename: Nagahisa
authors.initials: N
authors.lastname: Yoshimura
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D015862:Choroid Diseases / Q000150:complications* / Q000235:genetics; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan; D015810:Linkage Disequilibrium / Q000235:genetics; D008268:Macular Degeneration / Q000150:complications* / Q000235:genetics*; D008297:Male; D008957:Models, Genetic; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D014652:Vascular Diseases / Q000150:complications* / Q000235:genetics
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human