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Am J Resp Crit Care：PTPRO是伴严重的气流阻塞的肺气肿的一种新候选基因！

2017-02-17 xing.T MedSci原创

PTPRO伴严重的气流阻塞的肺气肿
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由此可见，PTPRO是伴严重的气流阻塞的肺气肿的一种新候选基因，并且rs61754411是一个以往未报道过的导致肺气肿易感性的罕见变异。其他的候选基因如znf816可以作为未来研究的重点。

在慢性阻塞性肺疾病（COPD）的遗传关联研究中主要检测的是常见的变异，其结果仅可以解释部分疾病的遗传性。罕见的变异也可能导疾病致敏感，近日，呼吸内科领域权威杂志Am J Resp Crit Care上发表了一篇研究文章，研究人员采用全基因组测序（WGS）的方法检测临床极端表型患者的基因组区域富集罕见导致COPD易感性增加的变异。以识别罕见的遗传变异导致

研究人员从匹兹堡SCCOR队列中确定了伴严重的气流阻塞的肺气肿耐受（n=65）或易感（n=64）的重度吸烟者。研究人员筛选过滤WGS结果，只包括罕见的变异，并进行了单变量检验，整个基因组以区域为基础的检验，以基因为基础的检验，以及外显子范围的检验。

研究人员确定了几个与伴严重的气流阻塞的肺气肿又能有关的关联，包括在基因ZNF816（19q13.41，P=4.5x10-6）区域中所有罕见的变异，以及在PTPRO基因一个非同义编码罕见变异（P=4.0x10-5）。rs61754411，一个在PTPRO基因罕见非同义变异，与肺气肿及阻塞相关，并且在匹兹堡sccor队列的所有非西班牙裔白人中得到了证实。研究人员发现含有这种变异的细胞其生存和增殖所必需的细胞通路信号减弱。

由此可见，PTPRO是伴严重的气流阻塞的肺气肿的一种新候选基因，并且rs61754411是一个以往未报道过的导致肺气肿易感性的罕见变异。其他的候选基因如znf816可以作为未来研究的重点。

原始出处：

Josiah E Radder , et al. Extreme Trait Whole Genome Sequencing Identifies PTPRO as a Novel Candidate Gene in Emphysema with Severe Airflow Obstruction. AM J RESP CRIT CARE 2017.http://dx.doi.org/10.1164/rccm.201606-1147OC


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    2018-01-02 12498a1cm78暂无昵称

    #候选基因#

    0

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    2017-07-14 tomyang96

    #阻塞#

    0

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    2017-05-07 laoli

    谢谢分享，学习了！

    0

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    2017-02-19 sunylz

    #PRO#

    0

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    2017-02-18 Dr.jerry

    感谢您的付出

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=1739857, encodeId=583f1e39857d7, content=<a href='/topic/show?id=be3f2e4673d' target=_blank style='color:#2F92EE;'>#候选基因#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=27467, encryptionId=be3f2e4673d, topicName=候选基因)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=bf3934589081, createdName=12498a1cm78暂无昵称, createdTime=Tue Jan 02 05:06:00 CST 2018, time=2018-01-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1696699, encodeId=5f6216966998a, content=<a href='/topic/show?id=d2e99e651e4' target=_blank style='color:#2F92EE;'>#阻塞#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=97651, encryptionId=d2e99e651e4, topicName=阻塞)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=a23129903429, createdName=tomyang96, createdTime=Fri Jul 14 14:06:00 CST 2017, time=2017-07-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=194898, encodeId=b251194898c5, content=谢谢分享，学习了！, beContent=null, objectType=article, channel=null, level=null, likeNumber=52, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/ajNVdqHZLLC1BMzZWdMSPQWuib6BtQGicK8ygGBM6YakpfkRc67soFSuKbZr86enL1KggQZEZbgWSeicJibafmYfQ3AibicIHMwwicmDShfRFvvI38/0, createdBy=272a110164, createdName=laoli, createdTime=Sun May 07 08:33:24 CST 2017, time=2017-05-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1601828, encodeId=a898160182825, content=<a href='/topic/show?id=2f801469e57' target=_blank style='color:#2F92EE;'>#PRO#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=26, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=14697, encryptionId=2f801469e57, topicName=PRO)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=a60b18898917, createdName=sunylz, createdTime=Sun Feb 19 04:06:00 CST 2017, time=2017-02-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=176695, encodeId=621a1e6695e7, content=感谢您的付出, beContent=null, objectType=article, channel=null, level=null, likeNumber=53, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cdnapi.center.medsci.cn/medsci/head/2017/04/30/dd6bade062cb598667f9f577194196c4.jpg, createdBy=422e1687020, createdName=Dr.jerry, createdTime=Sat Feb 18 02:07:40 CST 2017, time=2017-02-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=176694, encodeId=d3711e669423, content=感谢您的付出, beContent=null, objectType=article, channel=null, level=null, likeNumber=59, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cdnapi.center.medsci.cn/medsci/head/2017/04/30/dd6bade062cb598667f9f577194196c4.jpg, createdBy=422e1687020, createdName=Dr.jerry, createdTime=Sat Feb 18 02:07:33 CST 2017, time=2017-02-18, status=1, ipAttribution=)]
    2017-02-18 Dr.jerry

    感谢您的付出

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