染色体15q14和15q24基因多态性与汉族青少年高度近视的相关性

Association study of 15q14 and 15q24 with high myopia in Han Chinese adolescents / ZHOU Li, ZHANG Yanwei, WU Yu,

目的了解汉族青少年人群15q14,15q24基因多态性与高度近视的关联,为探究青少年近视发生机制并控制高度近视的发生提供参考依据。方法采用病例对照的方法探讨基因多态性与青少年高度近视发生的关联性。收集研究对象的抗凝静脉血样3 mL,提取基因组DNA,采用Taqman荧光探针技术对15q14区带上的rs524952,rs580839,rs634990,rs685352,rs7176510,以及15q24区带上rs28412916,rs4778879进行基因型分析。运用Cochran-Armitage趋势检验对各单核苷酸多态性（SNP）与高度近视的关联性进行分析;采用非条件Logistic回归模型,分析各SNP的各个遗传模型与高度近视发病的风险。结果位于15q14区带上的rs580839,rs685352和rs7176510,以及15q24区带上rs28412916,rs4778879位点的三种基因型在病例组和对照组中分布差异有统计学意义（P值均〈0.05）;经Bonferroni校正后,以0.007为检验水准,仅15q24区带上rs28412916,rs4778879位点的三种基因型在分布上差异有统计学意义。此外,经Bonferroni校正后,非条件Logistic回归结果显示位于15q14上的rs580839（显性模型：OR=1.38,95%CI=1.09～1.74）,15q24上的rs28412916（纯合子模型：OR=0.52,95%CI=0.37～0.72;隐性模型：OR=0.58,95%CI=0.43～0.76）,rs4778879（纯合子模型：OR=0.54,95%CI=0.39～0.75;隐性模型：OR=0.62,95%CI=0.47～0.82）能影响高度近视的发病风险（P值均〈0.007）。结论染色体15q24区带上rs28412916,rs4778879与高度近视的发病关联性较强。

Objective This study was to investigate the relationship between the genetic variation in 15q14 and 15q24 and high myopia in Han Chinese adolescents, and to provide references for probing into mechanism of high myopia and controlling high myopia. Methods A case-control study was designed to investigate the relationship between the genetic variation and high myopia.The 3 mL anticoagulant venous blood was obtained from all subjects for extraction of DNA. rs524952, rs580839, rs634990,rs685352,rs7176510 in 15q14 region and rs28412916,rs4778879 in 15q24 region were genotyped with Taqman fluorescence probe technique. The relationship between each SNP and high myopia was analyzed by using Cochran-Armitage trend test. Unconditional Logistic regression model was used to analyze the association between genetic models of each SNP and risk of occurrence of high myopia. Results There were significantly different distribution of three genotypes of rs580839, rs685352 and rs7176510 in 15q14 region and rs28412916, rs4778879 in 15q24 region in cases and control groups（ P〈0.05）. When the test level was set to 0.007 by using Bonferroni correction, only three genotypes of rs28412916, rs4778879 in 15q24 region are significantly different. Furthermore,non-conditional Logistic regression analysis showed that rs580839 on 15q14 region（ dominant model： OR = 1. 38, 95% CI = 1. 09-1.74） and rs28412916（ homozygote model： OR = 0.52, 95%CI = 0.37-0.72; recessive model： OR = 0.58, 95% CI = 0.43- 0.76） and rs4778879（ homozygote model： OR = 0.54, 95%CI = 0.39-0.75; recessive model： OR = 0.62, 95%CI = 0.47-0.82） in 15q24 can affect the risk of occurrence of high myopia after Bonferroni correction. Conclusion Our research indicated that there are significant association between rs28412916 and rs4778879 in 15q24 and high myopia.