Association of central serous chorioretinopathy with single nucleotide polymorphisms in complement factor H gene in...

To investigate the association of two different single nucleotide polymorphisms (SNPs) in the complement factor H (CFH) gene with central serous chorioretinopathy (CSCR) in the Iranian population.

This is a case-control study with 95 participants in each group who were stratified according to their various ethnical variations. Primers for rs1329428 and rs3753394 polymorphisms were synthesized. DNA was extracted from peripheral blood leukocytes and underwent PCR and high-resolution melt analysis.

The frequency of tt, ct, and cc genotypes for rs1329428 polymorphism was 22 (26.5%), 46 (55.4%), and 15 (18.1%) in acute CSCR and 5 (41.7%), 5 (41.7%), and 2 (16.7%) in chronic CSCR respectively with no significant difference between case and control groups. The frequency of tt, ct, and cc genotypes for rs3753394 polymorphism was 31 (37.3%), 14 (16.9%), and 38 (45.8%) in acute CSCR and 4 (33.3%), 3 (25%), and 5 (41.7%) in chronic CSCR respectively. There was a significant difference between patients of Persian descent and controls in rs3753394 polymorphism (P = 0.00, chi-square test). There was no statistical difference in the frequency of polymorphism between acute and chronic patients (P = 0.64 and P = 0.79 respectively, chi-square test).

The rs3753394 polymorphism is probably associated with CSCR in Persian ethnicity. Further studies are required to validate the implications of this finding in clinical practice.