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PLos One：雷诺现象与NOS1基因多态性的关联

2018-04-29 xiangting MedSci原创

雷诺现象NOS1多态性snps
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结果表明RP与基因NOS1的变异相关。这一发现可能与已知的NOS1中的SNP对基因表达有功能影响有关。

雷诺现象（RP）描述了手指动脉反复血管痉挛的现象，表现为皮肤颜色变化：苍白、发绀和红斑。在双胞胎中进行的研究表明RP具有遗传倾向; 然而RP的确切病因尚不清楚。目前认为，温度反应或血管痉挛基因的遗传变异可能是RP的基础，因此研究人员在一个基于人群的大型样本中进行了候选基因研究，评估了RP和TRPA1、TRPM8、CALCA、CALCB和NOS1基因单核苷酸多态性（SNPs）的关联。研究纳入来自TwinsUK数据库的4276人。使用经过验证的自填式问卷确定RP情况，其中640人（17.6％）被诊断有RP。使用线性回归模型检测候选基因的66个标记SNPs作为协变量与RP情况的关联。对多重检验进行了调整。使用RegulomeDB和GTEx数据库评估多态性的可能功能影响。RP与NOS1中的4个SNPs 、CALCB中的1个SNPs存在显著关联。排列测试后，NOS1中的 rs527590 SNP 通过了显著性阈值。RegulomeDB评分表明这种变异的功能影响不大，而检索GTEx数据库发现该SNP和连锁不平衡中的几种变体是皮肤中的顺式-eQTLs。结果表明RP与基因NOS1的变异相关。这一发现可

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    2018-06-13 119337457

    #Plos one#

    0

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    2018-05-01 宋威

    #雷诺现象#

    0

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    2018-05-01 xzw120

    #多态性#

    0

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    2018-04-29 有备才能无患

    雷诺现象(RP)描述了手指动脉反复血管痉挛的现象.表现为皮肤颜色变化:苍白.发绀和红斑.在双胞胎中进行的研究表明RP具有遗传倾向;然而RP的确切病因尚不清楚.目前认为.温度反应或血管痉挛基因的遗传变异可能是RP的基础.因此研究人员在一个基于人群的大型样本中进行了候选基因研究.评估了RP和TRPA1.TRPM8.CALCA.CALCB和NOS1基因单核苷酸多态性(SNPs)的关联.

    0

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    2018-04-29 虈亣靌

    对于初学者非常好.学习了.谢谢老师

    0

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    2018-04-29 changjiu

    学习一下

    0

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    2018-04-29 1e0f8808m18(暂无匿称)

    学习了.好文章.

    0

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