Abstract
BackgroundAge-related macular degeneration (AMD) is an important cause of visual impairment in elderly people. AMD is a multifactorial disease in which both environmental and genetic factors have been implicated. Various single nucleotide polymorphisms (SNPs) have been found to be associated with AMD. AimThis study was aimed to investigate the association of polymorphisms in VEGF genes with age related macular degeneration (AMD) in Indian patients. MethodGenotyping for the VEGF −1154 (G>A), −2578 (C>A), +405 (G>C) and −460 (C>T) SNPs was performed in 100 AMD patients and 100 controls by polymerase chain reaction (PCR), restriction fragment length polymorphism (PCR-RFLP) and sequencing method. ResultsOut of the four SNPs, heterozygous genotypes of VEGF −1154G>A (OR=2.58, p=0.0035), +460C>T (OR=2.90, p=0.0046), and +405G>C (OR=2.02, p=0.02) have shown susceptible association with AMD. However, VEGF −2578C>A did not show any statistical significance. Further A-A-G-T haplotype comprising of three mutant alleles revealed risk association (OR=12.7, p=0.0030) with AMD. ConclusionThe present study suggests significant genetic associations for VEGF −1154G>A, +460C>T, and +405G>C polymorphisms with AMD. Early detection of individuals with risk to these SNPs could lead to strategies for prevention, early diagnosis, and management of AMD.
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