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Br J Dermatol：脓疱性皮肤病的遗传基础仍然是难以捉摸的

2017-09-29 MedSci MedSci原创

脓疱性皮肤病基因突变
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背景：既往的研究已经确定了基因IL36RN、CARD14和AP1S3的罕见变异型有助于脓疱性皮肤病的发生和发展，其中主要是脓疱型银屑病（GPP）。目标：为了更好地了解这些疾病的基因关联，研究人员对患者队列进行筛选，确定脓疱性皮肤病（主要是GPP和掌跖脓疱型银屑病[ PPP ]）患者的上述三个基因编码的变化。对单杂合子IL36RN突变的携带者的IL36RN基因进行第二次突变的筛查。方法：研究人员对6

背景：既往的研究已经确定了基因IL36RN、CARD14和AP1S3的罕见变异型有助于脓疱性皮肤病的发生和发展，其中主要是脓疱型银屑病（GPP）。目标：为了更好地了解这些疾病的基因关联，研究人员对患者队列进行筛选，确定脓疱性皮肤病（主要是GPP和掌跖脓疱型银屑病[ PPP ]）患者的上述三个基因编码的变化。对单杂合子IL36RN突变的携带者的IL36RN基因进行第二次突变的筛查。方法：研究人员对67例患者（61例GPP，2例急性发疹性脓疱病和4例连续性肢端化脓性Hallopeau皮炎）的IL36RN、CARD14和AP1S3基因编码的外显子进行了测序。研究人员在IL36RN和AP1S3基因种筛选了基因内拷贝数变异，以及258例PPP患者的AP1S3基因编码的变化。11种杂合子IL36RN突变携带者接受了第二次非编码IL36RN突变的筛查。研究人员在GPP队列中评估了IL36RN突变携带者/非携带者的基因型与表型的相关性。结果：大多数患者（GPP：64%）没有携带任何三个基因的罕见变异。研究人员在15例和5例GPP患者种分别发现了单等位IL36RN突变和双等位IL36RN突变。没有在杂合

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  1. [GetPortalCommentsPageByObjectIdResponse(id=1826100, encodeId=54dc1826100c6, content=<a href='/topic/show?id=f6a6e206066' target=_blank style='color:#2F92EE;'>#皮肤病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=72060, encryptionId=f6a6e206066, topicName=皮肤病)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=30bd35, createdName=一叶知秋, createdTime=Thu Jul 19 19:40:00 CST 2018, time=2018-07-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=251626, encodeId=e8a02516269f, content=最后一点解读亮了, beContent=null, objectType=article, channel=null, level=null, likeNumber=74, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zMoyicyo6ia9f4IuLQAwZoxD6Hx4ibd5CMcOCYhStY6oDibbKK6O2X8iaicldO5ib8j1iapOIobIKCGiczU2A/0, createdBy=56251941490, createdName=虈亣靌, createdTime=Mon Oct 09 23:11:36 CST 2017, time=2017-10-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249370, encodeId=ade82493e0df, content=很复杂的病理, beContent=null, objectType=article, channel=null, level=null, likeNumber=82, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/vi_32/syBKejEucZo9aZXqKib7wdZYRpZOzeEKDyA59Er4fkK2ff1X7w9pfDTWUY75EBCpsNo0iaGqly7sJMtEPI2Pur6Q/0, createdBy=eb672097339, createdName=lucycici, createdTime=Sun Oct 01 09:17:15 CST 2017, time=2017-10-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249079, encodeId=ea3e2490e927, content=学习.谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=73, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyhb9xDeHojCicsdRdyC3XXdGk2ib9yLypZuHN06WeW4HO8WN0GGrgEfvnTX8gsckof05GHOU5OM4Mvx/0, createdBy=9cee1982656, createdName=执着追梦, createdTime=Sat Sep 30 10:22:54 CST 2017, time=2017-09-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249010, encodeId=a8e2249010b1, content=谢谢分享.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6Nx0VGA4QMDzOP8oAgnV4h51EjSfehJ9QxyiaSmw8PB56BhY8KXFSxHCibXrzcy4abrzSibXQPxJ9kzrLcJyhhB8a/0, createdBy=1d3b1672603, createdName=明月清辉, createdTime=Sat Sep 30 06:59:37 CST 2017, time=2017-09-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249001, encodeId=b59d249001d5, content=谢谢分享.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=105, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cdnapi.center.medsci.cn/medsci/head/2017/04/21/72142930668371951a41ef4ea4b233e6.jpg, createdBy=dcbc1715228, createdName=刘煜, createdTime=Sat Sep 30 06:49:50 CST 2017, time=2017-09-30, status=1, ipAttribution=)]
    2018-07-19 一叶知秋

    #皮肤病#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1826100, encodeId=54dc1826100c6, content=<a href='/topic/show?id=f6a6e206066' target=_blank style='color:#2F92EE;'>#皮肤病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=72060, encryptionId=f6a6e206066, topicName=皮肤病)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=30bd35, createdName=一叶知秋, createdTime=Thu Jul 19 19:40:00 CST 2018, time=2018-07-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=251626, encodeId=e8a02516269f, content=最后一点解读亮了, beContent=null, objectType=article, channel=null, level=null, likeNumber=74, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zMoyicyo6ia9f4IuLQAwZoxD6Hx4ibd5CMcOCYhStY6oDibbKK6O2X8iaicldO5ib8j1iapOIobIKCGiczU2A/0, createdBy=56251941490, createdName=虈亣靌, createdTime=Mon Oct 09 23:11:36 CST 2017, time=2017-10-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249370, encodeId=ade82493e0df, content=很复杂的病理, beContent=null, objectType=article, channel=null, level=null, likeNumber=82, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/vi_32/syBKejEucZo9aZXqKib7wdZYRpZOzeEKDyA59Er4fkK2ff1X7w9pfDTWUY75EBCpsNo0iaGqly7sJMtEPI2Pur6Q/0, createdBy=eb672097339, createdName=lucycici, createdTime=Sun Oct 01 09:17:15 CST 2017, time=2017-10-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249079, encodeId=ea3e2490e927, content=学习.谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=73, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyhb9xDeHojCicsdRdyC3XXdGk2ib9yLypZuHN06WeW4HO8WN0GGrgEfvnTX8gsckof05GHOU5OM4Mvx/0, createdBy=9cee1982656, createdName=执着追梦, createdTime=Sat Sep 30 10:22:54 CST 2017, time=2017-09-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249010, encodeId=a8e2249010b1, content=谢谢分享.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6Nx0VGA4QMDzOP8oAgnV4h51EjSfehJ9QxyiaSmw8PB56BhY8KXFSxHCibXrzcy4abrzSibXQPxJ9kzrLcJyhhB8a/0, createdBy=1d3b1672603, createdName=明月清辉, createdTime=Sat Sep 30 06:59:37 CST 2017, time=2017-09-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249001, encodeId=b59d249001d5, content=谢谢分享.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=105, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cdnapi.center.medsci.cn/medsci/head/2017/04/21/72142930668371951a41ef4ea4b233e6.jpg, createdBy=dcbc1715228, createdName=刘煜, createdTime=Sat Sep 30 06:49:50 CST 2017, time=2017-09-30, status=1, ipAttribution=)]
    2017-10-09 虈亣靌

    最后一点解读亮了

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=1826100, encodeId=54dc1826100c6, content=<a href='/topic/show?id=f6a6e206066' target=_blank style='color:#2F92EE;'>#皮肤病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=72060, encryptionId=f6a6e206066, topicName=皮肤病)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=30bd35, createdName=一叶知秋, createdTime=Thu Jul 19 19:40:00 CST 2018, time=2018-07-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=251626, encodeId=e8a02516269f, content=最后一点解读亮了, beContent=null, objectType=article, channel=null, level=null, likeNumber=74, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zMoyicyo6ia9f4IuLQAwZoxD6Hx4ibd5CMcOCYhStY6oDibbKK6O2X8iaicldO5ib8j1iapOIobIKCGiczU2A/0, createdBy=56251941490, createdName=虈亣靌, createdTime=Mon Oct 09 23:11:36 CST 2017, time=2017-10-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249370, encodeId=ade82493e0df, content=很复杂的病理, beContent=null, objectType=article, channel=null, level=null, likeNumber=82, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/vi_32/syBKejEucZo9aZXqKib7wdZYRpZOzeEKDyA59Er4fkK2ff1X7w9pfDTWUY75EBCpsNo0iaGqly7sJMtEPI2Pur6Q/0, createdBy=eb672097339, createdName=lucycici, createdTime=Sun Oct 01 09:17:15 CST 2017, time=2017-10-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249079, encodeId=ea3e2490e927, content=学习.谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=73, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyhb9xDeHojCicsdRdyC3XXdGk2ib9yLypZuHN06WeW4HO8WN0GGrgEfvnTX8gsckof05GHOU5OM4Mvx/0, createdBy=9cee1982656, createdName=执着追梦, createdTime=Sat Sep 30 10:22:54 CST 2017, time=2017-09-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249010, encodeId=a8e2249010b1, content=谢谢分享.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6Nx0VGA4QMDzOP8oAgnV4h51EjSfehJ9QxyiaSmw8PB56BhY8KXFSxHCibXrzcy4abrzSibXQPxJ9kzrLcJyhhB8a/0, createdBy=1d3b1672603, createdName=明月清辉, createdTime=Sat Sep 30 06:59:37 CST 2017, time=2017-09-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249001, encodeId=b59d249001d5, content=谢谢分享.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=105, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cdnapi.center.medsci.cn/medsci/head/2017/04/21/72142930668371951a41ef4ea4b233e6.jpg, createdBy=dcbc1715228, createdName=刘煜, createdTime=Sat Sep 30 06:49:50 CST 2017, time=2017-09-30, status=1, ipAttribution=)]
    2017-10-01 lucycici

    很复杂的病理

    0

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    2017-09-30 执着追梦

    学习.谢谢分享

    0

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    2017-09-30 明月清辉

    谢谢分享.学习了

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=1826100, encodeId=54dc1826100c6, content=<a href='/topic/show?id=f6a6e206066' target=_blank style='color:#2F92EE;'>#皮肤病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=72060, encryptionId=f6a6e206066, topicName=皮肤病)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=30bd35, createdName=一叶知秋, createdTime=Thu Jul 19 19:40:00 CST 2018, time=2018-07-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=251626, encodeId=e8a02516269f, content=最后一点解读亮了, beContent=null, objectType=article, channel=null, level=null, likeNumber=74, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zMoyicyo6ia9f4IuLQAwZoxD6Hx4ibd5CMcOCYhStY6oDibbKK6O2X8iaicldO5ib8j1iapOIobIKCGiczU2A/0, createdBy=56251941490, createdName=虈亣靌, createdTime=Mon Oct 09 23:11:36 CST 2017, time=2017-10-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249370, encodeId=ade82493e0df, content=很复杂的病理, beContent=null, objectType=article, channel=null, level=null, likeNumber=82, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/vi_32/syBKejEucZo9aZXqKib7wdZYRpZOzeEKDyA59Er4fkK2ff1X7w9pfDTWUY75EBCpsNo0iaGqly7sJMtEPI2Pur6Q/0, createdBy=eb672097339, createdName=lucycici, createdTime=Sun Oct 01 09:17:15 CST 2017, time=2017-10-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249079, encodeId=ea3e2490e927, content=学习.谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=73, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyhb9xDeHojCicsdRdyC3XXdGk2ib9yLypZuHN06WeW4HO8WN0GGrgEfvnTX8gsckof05GHOU5OM4Mvx/0, createdBy=9cee1982656, createdName=执着追梦, createdTime=Sat Sep 30 10:22:54 CST 2017, time=2017-09-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249010, encodeId=a8e2249010b1, content=谢谢分享.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6Nx0VGA4QMDzOP8oAgnV4h51EjSfehJ9QxyiaSmw8PB56BhY8KXFSxHCibXrzcy4abrzSibXQPxJ9kzrLcJyhhB8a/0, createdBy=1d3b1672603, createdName=明月清辉, createdTime=Sat Sep 30 06:59:37 CST 2017, time=2017-09-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=249001, encodeId=b59d249001d5, content=谢谢分享.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=105, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cdnapi.center.medsci.cn/medsci/head/2017/04/21/72142930668371951a41ef4ea4b233e6.jpg, createdBy=dcbc1715228, createdName=刘煜, createdTime=Sat Sep 30 06:49:50 CST 2017, time=2017-09-30, status=1, ipAttribution=)]
    2017-09-30 刘煜

    谢谢分享.学习了

    0

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