早期生长因子1和晶状体蛋白α-A基因多态与近视的关联性研究

Analysis of the association between myopia and variations in the EGR1 and CRYAA genes

目的 本实验通过关联分析,研究早期生长因子1（EGR1）和晶状体蛋白α-A （CRYAA）基因的标签单核苷酸多态性（tSNPs）与人类近视的关系.方法 实验研究.抽取2870名志愿者外周静脉血并制备DNA,其中包括1052名对照者（对照组）、615名中度近视患者（近视组1）、640名高度近视患者（近视组2）和563名先天性高度近视患者（近视组3）.分别用直接测序和限制性片段长度多态性（ RFLP）的方法对EGR1基因的1个tSNP（rs11743810）和CRYAA基因的2个tSNPs（rs872331、rs3788061）进行基因型分析；然后用x2检验分析tSNPs与近视易感性的关系.结果 对于EGR1基因的1个tSNP和CRYAA基因的2个tSNPs的基因型和等位基因频率,近视（全部）组和对照组之间差异无统计学意义（rs11743810：P=0.700、0.922;rs872331：P=0.377、0.166；rs3788061：P=0.444、0.303）.近视各组与对照组分别进行比较,差异也无统计学意义.结论 EGR1和CRYAA基因的多态与本组人类近视的遗传易感性无关.与动物模型不同,EGR1对人类近视的遗传易感性很可能没有明显影响.

Objective To examine if there is any association between myopia and genetic variations in the early growth response 1 （EGR1） and crystallin alpha A （CRYAA） genes.Methods Genomic DNA was collected from 2870 unrelated individuals,including 1052 university students without myopia （NC group）,615 university students with moderate myopia,640 university students with high myopia,and 563 unrelated patients with early onset high myopia.Three tag SNPs,rs872331 and rs3788061 in CRYAA as well as rs11743810 in EGR1,were genotyped by restricted fragment length polymorphism （RFLP） and cycle sequencing.The results from the myopes and controls were compared with a chi-square test.Results No statistically significant difference was found for genotypes or allele frequencies of the three tag SNPs between myopes and controls （rs11743810：P=0.700,0.922; rs872331：P=0.377,0.166; rs3788061：P=0444,0.303）.These results were not affected when each myopia group was compared to the control group respectively.Conclusion No evidence was found to support the association between myopia and variations in EGR1 and CRYAA.Unlike the observations in experimentally induced myopia in animals,EGR1 may not play a major role in the predisposition to myopia in humans.