Abstract:

Objective To investigate the correlation between single nucleotide polymorphism (SNP) rs9332739 in complement component 2 (C2) gene and advanced age-related macular degeneration (AMD). Methods 204 advanced AMD patients and 352 healthy controls in Shanghai were enrolled. Venous blood samples were collected and DNA was extracted using standard phenol-chloroform method. Genotypes on SNP rs9332739 in C2 gene in advanced AMD patients and controls were determined using TaqMan SNP genotyping assay. Fishers exact test, χ2 test and logistic regression test were used to analyze correlation between rs9332739 and advanced AMD. Results Compared with the control group, minor allele C on SNP rs9332739 in the advanced AMD group had an OR of 1.61 and P of 0.55, which had no statistical significance. P value of rs9332739 genotypes (CG/GG/CC) was 0.89 in additive and dominant models after adjusted for age and sex and had no statistical significance. The differences in three rs9332739 genotypes between two phenotype in advanced AMD, namely dry AMD and wet AMD, were not statistically significant (P=0.51). Conclusion The minor allele C on SNP rs9332739 in C2 gene is not a risk factor for the incidence of advance AMD in Chinese Han population. Genotype is not significantly associated with the incidence of AMD. rs9332739 may not be a major genetic marker in advance AMD. More samples are needed for further validation and investigation.

Key words: macular degeneration, complement component 2, single nucleotide polymorphism, association study