Association Between Myopia And Gene Polymorphism In Middle School Students Of Han And Zhuang Nationalities In Guangxi

Objective:The purpose of this study was to investigate the association between gene polymorphism of 30 loci and myopia in middle school students of Han and Zhuang nationalities in Guangxi.To further analyze the frequency distribution of myopia in high myopia group and middle and low group,and to explore the relationship between the SNPs and the severity of myopia.Methods:A case control design was used in this study.A total of 1166 cases of Han nationality and Zhuang nationality were enrolled in the study.The subjects were 538 cases of Han nationality and 628 cases in Zhuang nationality.Genomic DNA was extracted by collecting 3ml of peripheral venous blood from the object of study.A Sequenom MassARRAY genotyping method was carried out to analysis 30 candidate SNPs.SPSS17.0 was used to describe the general characteristics of the subjects.Chi-square test was used to compare the counting data between groups and t-test was used to compare the measured data between groups.The genetic balance test of Hardy-Weinberg was carried out by PLINK 1.07 statistical software,and the genotypic and allelic frequencies of each SNPs were analyzed.Non-conditional Logistic regression model was used to analyze the association between SNP and myopia under five genetic models.Haplotype analysis was carried out by Haploview4.0.Results:1.Correlation study between single nucleotides polymorphism and myopia(1)Middle school students of Han nationalitySeven SNPs were statistically significant associated with myopia.There were MTOR gene variant rs2536(C vs T:OR=1.704,95%CI=1.126-2.578,P=0.012;CC+CT vsTT:OR=1.760,95%CI=1.119-2.768,P=0.014)、IGF-1 gene variant rs6218(GG vs GA:OR=0.664,95%CI=0.452-0.973,P=0.036)、rs2288377(TT vs TA:OR=0.618,95%CI=0.423-0.903,P=0.013)、rs35767(AA vs AG:OR=0.650,95%CI=0.456-0.928,P=0.018)、GJD2 gene variant rs3743123(A vs G:OR=0.734,95%CI=0.541-0.996,P=0.047;AA vs GG:OR=0.555,95%CI=0.330-0.933,P=0.026;AAvsAG+GG:OR=0.328,95%CI=0.117-0.919,P=0.034)LAMA1 gene variant rs8090011(C vs G:c~2=4.115,P=0.043)、rs2089760(C vs T:OR=0.754,95%CI=0.580-0.981,P=0.035;CC+CT vs TT:OR=0.680,95%CI=0.479-0.965,P=0.031).The other SNPs were not statistically significant associated with myopia(P>0.05)In addition,MTOR gene variant rs2536(CC vs CT:OR=6.740,95%CI=1.462-3.070,P=0.014)is associated with the severity of myopia in the high myopia group and the middle and low myopia group.(2)Middle school students of Zhuang nationalitySeven SNPs were statistically significant associated with myopia.There were GJD2 gene variant rs3743123(AA vs AG:OR=0.531,95%CI=0.307-0.916,P=0.023)、rs651724(AA vs AT:OR=0.631,95%CI=0.444-0.896,P=0.010;AA+AT vs TT:OR=0.703,95%CI=0.507-0.974,P=0.034)、rs2277558(TT vs TA:OR=0.659,95%CI=0.463-0.937,P=0.020;TT+TA vs AA:OR=0.719,95%CI=0.519-0.998,P=0.048),RASGRF1 gene variant rs1867315(CC vs GG:OR=1.538,95%CI=1.090-2.170,P=0.014;CC vs CG:OR=0.631,95%CI=0.413-0.965,P=0.034;CCvs CG+GG:OR=2.397,95%CI=1.224-4.694,P=0.011)、rs2230518(GG vsAA:OR=1.846,95%CI=1.109-3.072,P=0.018;GG vs GA:OR=0.484,95%CI=0.269-0.868,P=0.015;GGvsGA+AA:OR=3.531,95%CI=1.282-9.723,P=0.015)、chr15 gene variant rs634990(CC+CT vs TT:OR=1.423,95%CI=1.017-1.992,P=0.040),LAMA1 gene variant rs2089760(CC vs TT:OR=0.704,95%CI=0.534-0.928,P=0.013;CC vsCT:OR=1.547,95%CI=1.076-2.224,P=0.019;CC vs CT+TT:OR=0.475,95%CI=0.281-0.803,P=0.005).The other SNPs were not statistically significant associated with myopia(P>0.05).Besides,LAMA1 gene variant rs2089760(C vs T:OR=0.533,95%CI=0.358-0.793,P=0.002;CC vs TT:OR=0.456,95%CI=0.157-0.736,P=0.001;CC+CT vs TT:OR=0.554,95%CI=0.336-0.915,P=0.021;CC vs CT+TT:OR=0.258,95%CI=0.103-0.646,P=0.004)is associated with the severity of myopia between the high myopia group and the middle and low myopia group.(3)Comparative analysis of Han and Zhuang nationalityThere were significant differences in the genotype of rs407496 locus between case and control group(P<0.050).There were significant differences in the genotypes of rs6554162,rs1800812 and rs7677751 loci between Han and Zhuang case group.The genotypes of rs6218,rs2288377,rs4778730,rs1867315,rs560766,rs524952,rs634990,rs8027411and rs8090011were significant differen-ces in control group.The frequency of rs8090011 and rs2089760 loci were significantly different between Han and Zhuang groups.In addition,the genotype and allele of rs2536 were significantly different in the high myopia groups.The genotype frequency of rs2089760 was statistically significant in high myopia groups(P<0.050).2、Haplotype analysis showed that all haplotypes in this study were not assoc-iated with myopia in middle school students of Han and Zhuang nationalities.Conclusion:1、There are the same SNPs in Han and Zhuang middle school students.The GJD2 gene variant rs2089760andLAMA1 gene variantrs3743123 were associated with myopia.The A allele at rs3743123 and the C allele at rs2089760may be protective genes for myopia.Among them,rs2089760was associated with the severity of myopia in Zhuang students,and the risk of high myopia was reduced in C allele.2、There are also different genes between the two ethnic groups.Among the Han students,MTOR gene variant rs2536 can increase the risk of myopia;IGF-1gene variant rs6218,rs2288377,rs35767 can reduce the risk of myopia.rs2536was associated with the severity of myopia,the risk of high myopia in CC genotype carriers was higher than CT genotype carriers.Among the Zhuang students,RASGRF1 gene variant rs1867315、rs2230518 and rs634990 can increase the risk of myopia;GJD2 gene variant rs651724 and rs2277558 can reduce the risk of myopia.