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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 number (PCN, 0, 1, 2 or 3+) of each region was called using the CopyCaller program. All candidate genes except  ARMS2/HTRA1  showed CNV in at least one individual, in which losses of  VEGFA  and  VLDLR  represent novel findings in the Asian population. When the frequencies of PCN were compared, only the gain in  VLDLR  showed significant differences between AMD patients and control subjects ( p  = 0.025). Comparisons of the raw copy values (RCV) revealed that 3 of 4 candidate genes showed significant differences (2.03 vs. 1.92 for  VEGFA ,  p <0.01; 2.01 vs. 1.97 for  CFH , p<0.01; 1.97 vs. 2.01,  p <0.01 for  ARMS2/HTRA1 ).    Conclusion  CNVs located in AMD-relevant genes may be associated with AMD susceptibility. Further investigations encompassing larger patient cohorts are needed to elucidate the role of CNV in AMD pathogenesis.

Copy Number Variation of Age-Related Macular Degeneration Relevant Genes in the Korean Population