PURPOSE

PLEKHA7 and COL11A1 were genotyped for single-nucleotide polymorphisms (SNPs) to investigate the possible association of these two genes with primary angle-closure glaucoma (PACG) and disease severity.

METHOD

A total of 51 PACG cases and 51 normal controls were recruited. Twelve SNPs in the PLEKHA7 (rs216489, rs1027617, rs366590, rs11024060, rs6486330, rs11024097, and rs11024102) and COL11A1 (rs1676484, rs3753841, rs12138977, rs2126642, and rs2622848) genes were genotyped by direct Sanger sequencing. Distributions of allele frequencies and genotype frequencies in cases and controls, as well as in mild, moderate, and severe subgroups, were compared based on mean defect (MD ≤ 6.00 dB, 6 dB < MD ≤ 12 dB, and MD > 12 dB were considered mild, moderate, and severe, respectively). Independent Student's -tests and chi-square tests were used to compare characteristics of PACG cases and controls. Chi-square tests were used to compare the distribution of allele frequencies in cases and controls and in MD-based subgroups with various degrees of glaucoma severity. Binary logistic regression was used to compare the distribution of genotype frequencies and calculate odds ratios (OR) with confidence intervals (CI).

RESULT

Three of the 12 SNPs in COL11A1, rs1676486 (=0.026, OR = 2.089, 95% CI = 1.092-3.996), rs3753841 (=0.036, OR = 1.886, 95% CI = 1.038-3.426), and rs12138977 (=0.024, OR = 2.133, 95% CI = 1.104-4.123) were found to have a significant association with PACG. Furthermore, in the subgroup analysis, rs1676486 (=0.018, OR = 2.416, 95% CI = 1.284-4.544; =0.011, OR = 2.119, 95% CI = 1.204-3.729), rs12138977 (=0.009, OR = 2.158, 95% CI = 1.287-3.618; =0.006, OR = 1.962, 95% CI = 1.239-3.106), and rs3753841 (=0.007, OR = 2.550, 95% CI = 1.344-4.839) showed statistically significant differences between moderate/severe groups and controls.

CONCLUSION

Our data suggested that COL11A1 rs1676484, rs3753841, and rs12138977 polymorphisms may be of value for further study as potential gene-dependent risk factors for developing PACG. Moreover, COL11A1 rs1676484 and rs12138977 polymorphisms might be associated with PACG disease severity.