single nucleotide polymorphisms in mcp-1 and its receptor are associated with the risk of age related macular degeneration单核苷酸多态性在mcp-1及其受体与年龄相关的黄斑变性的风险.pdfVIP

Single Nucleotide Polymorphisms in MCP-1 and Its Receptor Are Associated with the Risk of Age Related Macular Degeneration 1 . 1. 2 1 3 Akshay Anand * , Neel Kamal Sharma , Amod Gupta , Sudesh Prabhakar , Suresh Kumar Sharma , Ramandeep Singh2, Pawan Kumar Gupta1 1 Department of Neurology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India, 2 Department of Ophthalmology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India, 3 Department of Statistics, Panjab University, Chandigarh, India Abstract Background: Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly population. We have shown previously that mice deficient in monocyte chemoattractant protein-1 (MCP1/CCL2) or its receptor (CCR2) develop the features of AMD in senescent mice, however, the human genetic evidence so far is contradictory. We hypothesized that any dysfunction in the CCL2 and its receptor result could be the contributing factor in pathogenesis of AMD. Methods and Findings: 133 AMD patients and 80 healthy controls were enrolled for this study. Single neucleotid Polymorphism for CCL2 and CCR2 was analyzed by real time PCR. CCL2 levels were determined by enzyme-linked immunosorbent assay (ELISA) after normalization to total serum protein and percentage (%) of CCR2 expressing peripheral blood mononuclear cells (PBMCs) was evaluated using Flow Cytometry. The genotype and allele frequency for both CCL2 and CCR2 was found to be significantly different between AMD and normal controls. The CCL2 ELISA levels were significantly higher in AMD patients and flo