Copy number variation of age-related macular degeneration relevant genes in the Korean population.

ABSTRACT:

Purpose

Studies that analyzed single nucleotide polymorphisms (SNP) in various genes have shown that genetic factors are strongly associated with age-related macular degeneration (AMD) susceptibility. Copy number variation (CNV) may be an additional type of genetic variation that contributes to AMD pathogenesis. This study investigated CNV in 4 AMD-relevant genes in Korean AMD patients and control subjects.

Methods

Four CNV candidate regions located in AMD-relevant genes (VEGFA, ARMS2/HTRA1, CFH and VLDLR), were selected based on the outcomes of our previous study which elucidated common CNVs in the Asian populations. Real-time PCR based TaqMan Copy Number Assays were performed on CNV candidates in 273 AMD patients and 257 control subjects.

Results

The predicted copy

SUBMITTER: Park JH 

PROVIDER: S-EPMC3280288 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature