Related Experiment Video
Updated: Jun 17, 2026
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population
Fang Lu1, Peiquan Zhao, Yinchuan Fan
1Center for Human Molecular Biology & Genetics, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Sichuan, China.
Purpose:
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.
Related Concept Videos
01:05Single Nucleotide Polymorphisms-SNPs
01:11Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...