Abstract:

 Objective To investigate the associations between the single nucleotide polymorphisms (SNP) of VEGF gene and the risk of AMD in the Tujia population from Southwest Chongqing of China. Design Case control study. Participants Tujia people over the age of 50-year old in Southwestern Chongqing. Methods We used cluster random sampling and case-control correlation analysis in this study. We screened 50-year old Tujia native people in Southwestern Chongqing. 196 patients with AMD and 408 age-matched healthy persons were included. We extracted 5-10 ml peripheral blood from each of the participants for DNA extraction. Four SNP sites were selected from VEGF genes, namely rs3025039, rs2010963, rs833061and rs943080. Genetic typing and sequencing of these sites were performed by the MALDI-TOF analysis software provided by the Sequenom mass spectrometer MassARRAY experimental platform. SPSS statistical software was used to analyze the results. The allele frequencies and genotype frequencies were analyzed using the chi-square test and the non-conditional logistic regression model. The odd radios (OR) and 95% confidence interval (CI) were presented. The Bonferroni adjustment was applied when multiple comparisons was performed. P<0.05 was considered statistically significant. Main Outcome Measures Expression of related VEGF gene loci. Results There were significant differences（P<0.05） in allele frequencies and genotype frequencies of two SNPs sites（rs833061and rs2010963）between the AMD group and the control group. But the significance was disappeared after Bonferroni adjustment (P>0.05）. Conclusion In the Tujia population from Southwest Chongqing of China, AMD had no association with the VEGF SNP rs3025039, rs2010963, rs833061and rs943080. （Ophthalmol CHN， 2019, 28： 136-140）

Key words: the Tujia population, age-related macular degeneration, vascular endothelial growth factor, gene polymorphism