Association Between DNA Repair Genes XPD、ERCC6、XRCC5、BLM And WRN Polymorphisms And Susceptibility To Presenile Cataract In A Chinese Population

Objective: To confirm the association between DNA repair gene(XPD、ERCC6、XRCC5、BLM and WRN)polymorphisms and susceptibility to presenile cataract in a Chinese populationMethods: The present case-control study consisted of 162 patients(females,males)with cataract and 190 gender matched healthy controls(females,males)were randomly selected from unrelated volunteers in the Wuhan Tongji Hospital.The XPD、ERCC6、XRCC5、BLM and WRN genotypes were determined using polymerase chain reaction–restriction fragment length polymorphism method.Common alleles were selected as references,and uncommon alleles were treated as mutated gene.The Pearson Chi-square test was used to evaluate the gender composition ratio between the two groups.The Mann Whitney nonparametric test was used to evaluate the age composition of both groups.Logistic binary linear regression was used to test whether the frequency differences between the mutant and wild type alleles of the two alleles were in accordance with the population genetic Hardy-Weinberg equilibrium.Results: The genotype of ERCC6(rs2228526)was significantly different between the case group and the control group(P=0.005,OR=0.35,95%CI[0.17-0.72]).Using the common allele A as a reference,the difference of allele G was statistically significant(P=0.006,OR=0.37,95%CI[0.19-0.75]).The frequency of mutant gene G was higher in the case group(8%)than in the control group(3.2%).However,there was no significant difference between the case group and the control group in the mutant and wild type of BLM(rs1063147),XPD(rs1799793),XRCC5(rs1051685)and WRN(rs2725338)(P respectively = 0.28,0.17,0.40 and 0.29,all> 0.05).There was no significant difference in the frequency of alleles of BLM(rs1063147),XPD(rs1799793),XRCC5(rs1051685)and WRN(rs2725338)between the case group and the control group(P respectively =0.53,0.77,0.42 and 0.21,all> 0.05).Conclusions: There was a statistically significant difference of ERCC6(rs2228526)between the case group and the control group,with a statistically significant difference in the frequency of allele G,indicating that ERCC6(rs2228526)plays a role in the formation of presenile cataracts,and the presence of G gene can induce the occurrence of presenile cataract.Howerver there was no significant statistical difference between the case and control groups in the frequencies of alleles and genotypes of BLM(rs1063147),XPD(rs1799793),XRCC5(rs1051685)and WRN(rs2725338)which inferred that the roles of BLM(rs1063147),XPD(rs1799793),XRCC5(rs1051685)and WRN(rs2725338)genes in the development of presenile cataracts could not be decided clearly.