RORA, ROBO1, CFH and HTRA1 Gene Polymorphisms and Neovascular Age-Related Macular Degeneration in a Turkish Cohort Study

Abstract

The aim of this study is to investigate whether there are any associations between rs8034864 (RORA), rs1387665 (ROBO1), rs1329424 (CFH), rs3793917 (HTRA1) polymorphisms and Neovascular Age Related Macular Degeneration (nAMD). We conducted a case-control study of the related polymorphisms in Turkish patients. We compared genotype and allele frequencies of 125 patients diagnosed nAMD and 108 healthy controls in terms of related polymorphisms. Genotyping was performed with Real-time  Polymerase Chain Reaction. We found significant association between rs1329424 (CFH), rs3793917 (HTRA1) polymorphisms and
nAMD. There were significant differences between cases and controls in terms of genotype and allele frequencies of rs1329424 (CFH), rs3793917 (HTRA1) (P=0,0017, OR= 1,82; P0,0001, OR=3,26; respectively). On contrary to these findings, there were no significant associations between rs8034864 (RORA), rs1387665 (ROBO1) polymorphisms and nAMD. There were no significant differences between cases and controls in terms of genotype and allele frequencies of rs8034864 (RORA) and rs1387665 (ROBO1) (P=0,110995, OR= 0,72; P=0,236724, OR= 1,25; respectively). Significant association was verified between rs1329424 (CFH),  rs3793917 (HTRA1) polymorphisms and nAMD in our study group as reported in literature before. However, further studies in a larger sample are needed for providing information about the rs8034864 (RORA), rs1387665 (ROBO1) polymorphisms and nAMD.