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Ethnic differences in the association of SERPING1 with age-related macular degeneration and polypoidal choroidal vasculopathy

Authors: Chi Pui Pang; Ke Liu; Timothy Y Y Lai; Li Jia Chen; Pancy O. S. Tam; Frank H. P. Lai; Alvin L. Young; +2 Authors

Ethnic differences in the association of SERPING1 with age-related macular degeneration and polypoidal choroidal vasculopathy

Abstract

AbstractNeovascular 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.

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Keywords

Adult, Aged, 80 and over, Male, Genotype, Complement C1 Inactivator Proteins, Middle Aged, Article, Choroidal Neovascularization, Linkage Disequilibrium, Macular Degeneration, Haplotypes, Meta-Analysis as Topic, Case-Control Studies, Odds Ratio, Humans, Female, Genetic Predisposition to Disease, Complement C1 Inhibitor Protein, Alleles, Genetic Association Studies, Aged

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
29
Top 10%
Top 10%
Top 10%
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