Vascular endothelial growth factor gene polymorphisms and association with age related macular degeneration in Indian patients.
BACKGROUND
Age-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.


OBJECTIVE
This study was aimed to investigate the association of polymorphisms in VEGF genes with age related macular degeneration (AMD) in Indian patients.


METHODS
Genotyping 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.


RESULTS
Out of the four SNPs, heterozygous genotypes of VEGF - 1154 G > A (OR = 2.58, p = 0.0035), + 460 C > T (OR = 2.90, p = 0.0046), and + 405 G > C (OR = 2.02, p = 0.02) have shown susceptible association with AMD. However, VEGF - 2578 C > 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.


CONCLUSIONS
The present study suggests significant genetic associations for VEGF - 1154 G > A, + 460 C > T, and + 405 G > 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.
Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow -226014, India.
Divya
D
Gupta
Physiology, King George's Medical University, Lucknow -226003, India.
Vani
V
Gupta
Ophthalmology, King George's Medical University, Lucknow -226003, India.
Vinita
V
Singh
Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow -226014, India.
Swayam
S
Prakash
Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow -226014, India.
Suraksha
S
Agrawal
Prakash Netra Kendra, Gomti Nagar, Lucknow -226002, India.
Shobhit
S
Chawla
Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow -226014, India.
Shubha R
SR
Phadke
AMD; Indian; PCR-RFLP; Polymorphism; Sequencing; VEGF