Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects.

ABSTRACT:

Purpose

Common genetic variation in the complement component 1 inhibitor gene (SERPING1) was recently reported to increase the risk of developing age-related macular degeneration (AMD). This study was performed to replicate the association between SERPING1 and AMD.

Methods

Seven single nucleotide polymorphisms (SNPs) tagging common haplotypes across SERPING1 were genotyped on 786 (The Mayo Clinic) subjects and the association with AMD studied using single SNP and haplotype association analyses. The SNP in intron 6 (rs2511989) previously reported to increase the risk of AMD was studied in an additional 1,541 subjects from the Age-Related Eye Disease Study (AREDS). Association with specific subtypes of AMD and interaction with four other loci: complement factor H (CFH), age-re

SUBMITTER: Park KH 

PROVIDER: S-EPMC2629736 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature