AIM:To analyze the relationship of carbonic anhydrase Ⅱ gene polymorphism with primary open angle glaucoma genetic susceptibility.

METHODS:From January 2012 to December 2014, 50 cases in our hospital for treatment of primary open angle glaucoma(study group)and 50 cases in outpatient department of our hospital for health examination(control group)were tested. The conventional elbow venous blood was taken. The use of polymerase chain reaction(PCR)and restriction fragment length polymorphism test were used to detect the characteristics of carbonic anhydrase Ⅱ gene polymorphism.

RESULTS:The locus site of rs3758078 and rs10504813 of the two groups were in line with Hardy - Weinberg equilibrium law(Hardy-Weinberg equilibrium).The results displayed in rs10504813 site, the difference of genotype frequencies between the two groups was not statistically significant(P>0.05). But the difference in allele frequencies between the two groups was statistical significance(P<0.05). The differences of locus genotype and allele frequencies between the two groups in rs3758078 had no statistical significance(P>0.05). After the carbonic anhydrase Ⅱ polymorphism haplotype analysis in the two groups, TAC(Tracking area code of cell served by neighbor Enb)haplotype carriers appeared lawer risk of primary open-angle glaucoma.

CONCLUSION:There is certain relation between the polymorphism and the risk of carbonic anhydrase primary open-angle glaucoma, and rs3758078 locus balance may be the main reason for low risk; TAC haplotype carriers appear lower risk of primary open angle glaucoma.