Divya Gupta1, Vani Gupta2, Vinita Singh3, Shobhit Chawla4, Farah Parveen1, Suraksha Agrawal1, Shubha R Phadke5. 1. Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. 2. Department of Physiology, King George's Medical University, Chowk, Lucknow, India. 3. Department of Ophthalmology, King George's Medical University, Chowk, Lucknow, India. 4. Prakash Netra Kendra Gomti Nagar, Lucknow, India. 5. Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. Electronic address: shubharaophadke@gmail.com.
Abstract
BACKGROUND AND AIMS: Age-related macular degeneration (AMD) is an important cause of visual impairment in elderly persons. 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. This study aimed to investigate the association of polymorphisms in CX3CR1, PLEKHA1 and VEGF genes with AMD in Indian patients. METHODS: Genotyping for the CX3CR1 T280M (C>T) and V249I (G>A), PLEKHA1 A320T (G>A) &VEGF +674 (C>T) and +936 (C>T) was performed in 121 AMD patients and 100 controls by polymerase chain reaction, restriction fragment length polymorphism (PCR-RFLP) and sequencing method. RESULTS: The genotype analysis of VEGF gene polymorphisms (+674 and +936) showed a significant association with AMD. Odds ratios for VEGF (+674) and VEGF (+936) were 2.37 and 2.50 with a p value 0.0029 and 0.0358 for the autosomal dominant model. CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with AMD. Odds ratios for mutant alleles of T280M and V249I polymorphisms in CX3CR1 gene were 0.95 and 0.83, respectively, compared to the wild-type alleles. Odds ratio for the polymorphism in the PLEKHA1 gene was 0.63. CONCLUSIONS: The present study suggests that both polymorphisms in VEGF gene are risk factors for AMD in the Indian population. Detection of individuals at risk could lead to strategies for prevention, early diagnosis and management of AMD.
BACKGROUND AND AIMS: Age-related macular degeneration (AMD) is an important cause of visual impairment in elderly persons. 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. This study aimed to investigate the association of polymorphisms in CX3CR1, PLEKHA1 and VEGF genes with AMD in Indian patients. METHODS: Genotyping for the CX3CR1T280M (C>T) and V249I (G>A), PLEKHA1A320T (G>A) &VEGF +674 (C>T) and +936 (C>T) was performed in 121 AMDpatients and 100 controls by polymerase chain reaction, restriction fragment length polymorphism (PCR-RFLP) and sequencing method. RESULTS: The genotype analysis of VEGF gene polymorphisms (+674 and +936) showed a significant association with AMD. Odds ratios for VEGF (+674) and VEGF (+936) were 2.37 and 2.50 with a p value 0.0029 and 0.0358 for the autosomal dominant model. CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with AMD. Odds ratios for mutant alleles of T280M and V249I polymorphisms in CX3CR1 gene were 0.95 and 0.83, respectively, compared to the wild-type alleles. Odds ratio for the polymorphism in the PLEKHA1 gene was 0.63. CONCLUSIONS: The present study suggests that both polymorphisms in VEGF gene are risk factors for AMD in the Indian population. Detection of individuals at risk could lead to strategies for prevention, early diagnosis and management of AMD.