Association Of EGR1and LAMA2Polymorphisms With High Myopia In Han Chinese Population

Purpose:This study aimed to investigate the associated between high myopia and SNPs in the gene in the early growth response protein1(EGR1) and laminin α2(LAMA2) genes in Chinese.Methods:Selection of SNP markers for EGR1and LAMA2genes in Chinese population:Based on findings of previous studies and animal models, we select EGR1(early growth response protein1) and LAMA2(laminin a2) gene as candidate myopia genes. According to the data from HapMap Projiect, we selected4tag SNPs fit for Chinese population for Linkage disequilibrium analysis. The MAF(minor allele frequency) of informative marker should exceed0.2and r2should exceed0.8. Thus, rs11743810in EGR1and rs2571575、 rs9321170、rs9321170in LAMA2were chosen for our research. Association of the EGR1and LAMA2genes with high myopia:Totally132nuclear families consisting of one affected sib with high myopia and parents were recruited for association study. We also recruited191single high myopia patients and487normal controls. For all the patients, we recorded myopia diopter, eye axial length, anterior chamber depth and corneal power. DNA was extracted from the venous blood of the samples. Polymerase chain reaction-ligase detection reaction(PCR-LDR) is applied to detect the genetype of4tSNPs.Case-control test and FBAT were carried out using the Haploview software.Results:For both studies,the analysis did not reveal any significant differences between cases and controls of the4SNPs. In the case-control study, the P value are0.5641,0.8375,0.9947,0.8322,respectively,and that of the FBAT study are0.2216,0.6767,0.7738,0.7127.All the P values are bigger than0.05and genotype of these four site showed no significant differences among high myopia patients and normal group.Conclusion:The results of study showed no association of these4SNPs in the EGR1and LAMA2genes and high myopia, indicating these blocks may not be involved in high myopia in Han Chinese.