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Letter Article

从全基因组关联研究中鉴定与血压，冠状动脉疾病和中风相关的磷酸化相关SNP

卷 19, 期 10, 2019

页: [731 - 738] 页: 8

弟呕挨: 10.2174/1566524019666190828151540

价格: $65

摘要

目的：磷酸化相关SNP（phosSNP）是一种非同义词SNP，可能会影响蛋白质的磷酸化状态。这项研究的目的是评估phosSNPs对血压（BP），冠状动脉疾病（CAD）和缺血性中风（IS）的影响。 方法：我们在全基因组关联研究（GWAS）的共享数据中检查了phosSNP与BP，CAD和IS的关联，并检验了该疾病位点是否富含phosSNP。此外，我们进行了定量性状基因座分析，以找出鉴定出的phosSNP是否对基因表达，蛋白质和代谢产物水平产生影响。 结果：我们发现大量的phosSNP用于收缩压（count = 148），舒张压（count = 206），CAD（count = 20）和IS（count = 4）。对于SBP，DBP，CAD和IS而言，最重要的phosSNP分别是MTHFR中的rs1801131，SH2B3中的rs3184504，WDR12中的rs35212307和SH2B3中的rs3184504。我们的分析表明，由原始GWAS鉴定的相关SNP大量富含phosSNP，许多易患心血管疾病的众所周知的基因均含有大量phosSNP。我们发现在包含涉及心血管疾病的功能基因的基因座中，phosSNP的BP，CAD和IS共享，例如rs11556924（ZC3HC1），rs1971819（ICA1L），rs3184504（SH2B3），rs3739998（JCAD），rs903160（SMG6）。 ADAMTS7中的四个phosSNP与CAD显着相关，包括已知的功能性SNP rs3825807。此外，已鉴定的phosSNPs似乎有可能影响许多心血管疾病相关蛋白和代谢产物的转录调控和血清水平。 结论：研究结果表明，phosSNPs可能在BP调节以及CAD和IS的病理机制中起重要作用。

关键词: 血压，冠状动脉疾病，中风，磷酸单核苷酸多态性，全基因组关联研究，数量性状基因座

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