Pleckstrin-Homology-Domain-Containing Protein (PLEKHA1) gene and their association with age related macular degeneration (AMD) 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. Aim: This study was aimed to investigate the association of polymorphisms in PLEKHA1 rs4146894 (G>A) gene with age related macular degeneration (AMD) in Indian patients. Method: Genotyping for the PLEKHA1 rs4146894 (G>A) polymorphism performed in 121 AMD patients and 100 controls by polymerase chain reaction (PCR) and sequencing method. Results: This is the first study from India on PLEKHA1 rs4146894 (G>A) polymorphism. In this study, we did not get any change in DNA sequence by sequencing method. So, we can say that the risk allele of PLEKHA1 rs4146894 (G>A) polymorphism is not find in Indian population. On the other hand in Indian population the risk of A allele is not present, and this gene is not playing any significant contribution with AMD in Indian population. Conclusion: Very limited literatures are available for PLEKHA1 polymorphism in AMD patients, though, it is quite possible that the variation in the data shows population based differences. So, the present study raises the possibility that PLEKHA1 rs4146894 (G>A) polymorphism may not have a significant association with AMD in Indian patients.