title: Ethnic differences in the association of SERPING1 with age-related macular degeneration and polypoidal choroidal vasculopathy.
abstract: Neovascular age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) are leading causes of irreversible blindness in developed countries. In this study, we investigated the association of single nucleotide polymorphisms (SNPs) in the serpin peptidase inhibitor, clade G, member 1 (SERPING1) gene with neovascular AMD and PCV. Two haplotype-tagging SNPs, rs1005510 and rs11603020, of SERPING1 were genotyped in 708 unrelated Chinese individuals: 200 neovascular AMD, 233 PCV and 275 controls. A meta-analysis was also performed for all reported associations of SERPING1 SNPs with AMD and PCV. None of the tagging SNPs had a significant association with neovascular AMD or PCV (P > 0.05) in our study cohort. The meta-analyses showed that the most-studied SNP rs2511989 was not significantly associated with all forms of AMD, neovascular AMD, or PCV in East Asians (P = 0.98, 0.93 and 0.30, respectively) but was associated with AMD in Caucasians (P = 0.04 for all AMD and 0.004 for neovascular AMD). Therefore, the results of our study and meta-analysis suggest that SERPING1 is not a major genetic component of AMD or PCV in East Asians but is a genetic risk factor for AMD in Caucasians, providing evidence for an ethnic diversity in the genetic etiology of AMD.
authors: 1] Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China [2] Shenzhen Eye Hospital, Shenzhen, China [3] Shenzhen Key Laboratory of Ophthalmology, Shenzhen, China.
authors: Ke
authors: K
authors: Liu
authors: Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
authors: Timothy Y Y
authors: TY
authors: Lai
authors: Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
authors: Li
authors: L
authors: Ma
authors: Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, the Chinese University of Hong Kong, Hong Kong, China.
authors: Frank H P
authors: FH
authors: Lai
authors: 1] Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China [2] Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, the Chinese University of Hong Kong, Hong Kong, China.
authors: Alvin L
authors: AL
authors: Young
authors: 1] Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China [2] Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, the Chinese University of Hong Kong, Hong Kong, China.
authors: Marten E
authors: ME
authors: Brelen
authors: Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
authors: Pancy O S
authors: PO
authors: Tam
authors: 1] Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China [2] Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, the Chinese University of Hong Kong, Hong Kong, China.
authors: Chi Pui
authors: CP
authors: Pang
authors: 1] Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China [2] Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, the Chinese University of Hong Kong, Hong Kong, China.
authors: Li Jia
authors: LJ
authors: Chen
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D020256:Choroidal Neovascularization / Q000235:genetics*; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D015201:Meta-Analysis as Topic; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012737:Sex Factors
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human