No association of age-related maculopathy susceptibility protein 2/HtrA serine peptidase 1 or complement factor H polymorphisms with early age-related maculopathy in a Chinese cohort

• Published in: Molecular vision Vol. 19; pp. 944 - 954
• Main Authors: Chen, Jian-Huan, Yang, Yunli, Zheng, Yuqian, Qiu, Minghui, Xie, Mingliang, Lin, Wenjie, Zhang, Mingzhi, Pang, Chi Pui, Chen, Haoyu
• Format: Journal Article
• Language: English
• Published: United States Molecular Vision 01.05.2013
• Subjects: Age of Onset; Aged; Aged, 80 and over; Asian People - genetics; China - epidemiology; Cohort Studies; Complement Factor H - genetics; Demography; Female; Genetic Association Studies; Genetic Predisposition to Disease; High-Temperature Requirement A Serine Peptidase 1; Humans; Linkage Disequilibrium - genetics; Macular Degeneration - epidemiology; Macular Degeneration - genetics; Male; Middle Aged; Polymorphism, Single Nucleotide - genetics; Proteins - genetics; Serine Endopeptidases - genetics; China
• ISSN: 1090-0535; 1090-0535

Single nucleotide polymorphisms (SNPs) of age-related maculopathy susceptibility protein 2/HtrA serine peptidase 1 (ARMS2/HTRA1) and complement factor H (CFH) have been reported to be associated with age-related macular degeneration (AMD). The purpose of this study was to investigate the association of ARMS2/HTRA1 and CFH SNPs with early age-related maculopathy (ARM) in a Han Chinese cohort. The cohort consisted of 315 unrelated subjects, including 158 patients with early ARM and 157 recruited controls. Early ARM was diagnosed and graded according to the Age-Related Eye Disease Study criteria. Four SNPs in ARMS2/HTRA1 and six SNPs in CFH previously reported to be associated with AMD were genotyped using TaqMan genotyping assays. Logistic regression implemented with the R statistical language was used for association analysis. None of the ARMS2/HTRA1 and CFH SNPs showed any significant association with early ARM (all p>0.453), with the odds ratios ranging from 0.88 to 1.17. None of the SNPs were associated with unilateral or bilateral early ARM or any grade of early ARM (all p>0.249). The association of ARMS2/HTRA1 and CFH SNPs in early ARM was not detected in our cohort. The findings in the current study indicated that the effects of ARMS2/HTRA1 and CFH in early ARM could be much lower compared to those in AMD.