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首页> 外文学位 >Mapping of Myopia Susceptibility Genes Using Population-based Association Studies (Case-control Studies).
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Mapping of Myopia Susceptibility Genes Using Population-based Association Studies (Case-control Studies).

机译：使用基于人群的关联研究（病例对照研究）定位近视易感基因。

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摘要

Myopia is the most common eye disorder in the world. The prevalence of myopia is up to 80% in some Chinese populations. A refractive error in excess of --6.00 diopters (D) is defined as high myopia, which associates eye blindness complications.;The present case-control study started with recruitment of Chinese subjects who were highly myopic (≤ -8.0 D or worse, n=300) or emmetropic (within +/-0.75 D, n=300). The first genetic association study was a replication study for the myocilin (MYOC) gene and the second study was a separate study exploring candidate genes in the MYP2 region by a DNA pooling approach, followed by confirmation using individual genotyping.;MYOC polymorphisms previously found associated with high myopia in previous studies were genotyped together with other SNPs in strong linkage disequilibrium with the positive markers: two microsatellites and eight single nucleotide polymorphisms (SNPs) in total. Five correlated SNPs at the 3' end of the gene showed significant differences between high myopes and controls under three genetic models tested. The results remained significant after correction for multiple comparisons. The two most significant associations with rs64252356 and rs743994 were further confirmed in our original families.;Previous studies using linkage analysis of highly myopic families identified a myopia locus at chromosome 18p11 -- the MYP2 locus. We selected seven candidate genes from the MYP2 region and examined 62 tag SNPs with a two-stage DNA pooling approach. In the first stage, case and control DNA pools were constructed; allele frequencies of SNPs were then compared across 3 replicates of each pool and across two sets of pools by means of nested analysis of variance. In the second stage, nine promising SNPs (P ≤0.10) were further evaluated by individual genotyping. SNP (rs589318) within the LPIN2 gene was found to be associated with high myopia, and the significance survived correction.;In conclusion, the results of the present study implicated the involvement of 3' polymorphisms of the MYOC gene in the predisposition to high myopia. Moreover, we identified the LPIN2 gene in the MYP2 region to be associated with high myopia by a DNA pooling screening strategy.
机译：近视是世界上最常见的眼疾。在某些中国人口中，近视的患病率高达80％。屈光不正超过--6.00屈光度（D）被定义为高度近视，伴有眼盲并发症;本病例对照研究始于招募高度近视（≤-8.0 D或更严重的中国受试者， n = 300）或正视（+/- 0.75 D内，n = 300）。第一项遗传关联研究是对myocilin（MYOC）基因的复制研究，第二项研究是一项单独的研究，通过DNA合并方法探索MYP2区的候选基因，然后使用个体基因分型进行确认。在以前的研究中，高度近视眼的患者与其他SNP一起在强连锁不平衡中具有阳性标记的基因型：总共两个微卫星和八个单核苷酸多态性（SNP）。在测试的三种遗传模型下，基因3'端的五个相关SNP显示高近视与对照组之间存在显着差异。进行多次比较校正后，结果仍然显着。 rs64252356和rs743994这两个最重要的关联在我们的原始家族中得到了进一步证实。；以前使用高度近视家族的连锁分析进行的研究确定了18p11染色体上的近视基因座-MYP2基因座。我们从MYP2区域中选择了七个候选基因，并采用两阶段DNA合并方法检查了62个标签SNP。在第一阶段，构建了病例和对照DNA库。然后，通过嵌套方差分析，比较每个库的3个重复样本和两组库的SNP等位基因频率。在第二阶段，通过个体基因分型进一步评估了九种有前途的SNP（P≤0.10）。 LPIN2基因内的SNP（rs589318）被发现与高度近视有关，其意义尚待纠正。;总而言之，本研究的结果暗示MYOC基因的3'多态性与高度近视易感性有关。 。此外，我们通过DNA池筛选策略确定了MYP2区中的LPIN2基因与高度近视有关。

著录项

  • 作者

    Lo, Ka Kin.;

  • 作者单位

    Hong Kong Polytechnic University (Hong Kong).;

  • 授予单位 Hong Kong Polytechnic University (Hong Kong).;
  • 学科 Ophthalmology.
  • 学位 Ph.D.
  • 年度 2011
  • 页码 339 p.
  • 总页数 339
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
  • 关键词

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