Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma
Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma
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DOI：
10.1038/eye.2014.42
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发表时间：
2014-06-01
期刊：
影响因子：
3.9
通讯作者：
Pasquale, L. R.
中科院分区：
文献类型：
--
作者：
Kang, J. H.;Loomis, S. J.;Pasquale, L. R.
目的 原发性开角型青光眼 (POAG) 的血管灌注可能受损；因此，我们评估了与 POAG 相关的血管张力调节基因中的一组标记。 方法 我们使用 Illumina 660W-Quad 阵列基因型数据，并汇总了来自国家眼科研究所青光眼人类遗传学合作联盟和青光眼基因与环境研究的 3108 个 POAG 病例和 3430 个对照的 P 值。利用先前文献和京都基因与基因组百科全书 (KEGG) 途径的信息，我们编译了 186 个血管张力调节基因的单核苷酸多态性 (SNP)。我们使用“随机化合并结构的通路分析”分析软件，该软件进行了 1000 次排列，以比较总体通路和选定的基因，以及与 POAG 相关的可比较的随机生成通路和基因。 结果 血管张力通路与 POAG 整体或 POAG 亚型无关，由视野丧失类型定义（早期旁中心丧失（n = 224 例）或仅外周丧失（n 993 例））（排列P>0.20）。在基于基因的分析中，八个与 POAG 总体上排列 P 相关。
Aims Vascular perfusion may be impaired in primary open-angle glaucoma (POAG); thus, we evaluated a panel of markers in vascular tone-regulating genes in relation to POAG.Methods We used Illumina 660W-Quad array genotype data and pooled P-values from 3108 POAG cases and 3430 controls from the combined National Eye Institute Glaucoma Human Genetics Collaboration consortium and Glaucoma Genes and Environment studies. Using information from previous literature and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways, we compiled single-nucleotide polymorphisms (SNPs) in 186 vascular tone-regulating genes. We used the 'Pathway Analysis by Randomization Incorporating Structure' analysis software, which performed 1000 permutations to compare the overall pathway and selected genes with comparable randomly generated pathways and genes in their association with POAG.Results The vascular tone pathway was not associated with POAG overall or POAG subtypes, defined by the type of visual field loss (early paracentral loss (n = 224 cases) or only peripheral loss (n 993 cases)) (permuted P>0.20). In gene-based analyses, eight were associated with POAG overall at permuted P