New Engl J Med:遗传变异与多发性硬化和系统性红斑狼疮相关

2017-07-17 zhuliee 来宝网

每日健康---根据美国新英格兰医学杂志在4月26号的网上报到,目前确定了一种基因变异和多发性硬化(MS)及系统性红斑狼疮(SLE)都有相关性。



编码细胞因子和B细胞活化因子的相关基因的突变和MS及SLE的发病相关】每日健康---根据美国新英格兰医学杂志在4月26号的网上报到,目前确定了一种基因变异和多发性硬化(MS)及系统性红斑狼疮(SLE)都有相关性。

来自意大利生物医学和遗传学的Maristella Steri博士以及他的同事在多发性硬化中进行了全基因组关联研究,并在系统性红斑狼疮中进行了TNFSF13B位点特异相关性检测。

为了确定因果变异并确定其活化机制,他们进行了广泛的免疫表型变量、基于序列的精细作图、交叉群体和交叉表型分析及基因表达研究。

研究者发现编码细胞因子和药物靶向B细胞活化因子(BAFF)的TNFSF13B既和多发性硬化有关,又和系统性红斑狼疮有关。

另外,疾病的风险等位基因和上调的体液免疫(可溶性BAFF水平、B淋巴细胞、免疫球蛋白水平升高)之间存在相关性。

插入删除突变基因,GCTGT→A(在这里面A是危险等位基因)被认为是突变体,且发生更短的转录以逃避micro RNA的阻碍,从而增加可溶性BAFF的产生。BAFF的升高反过来刺激体液免疫的发生。

基于人口遗传特征来分析,这个自身免疫突变基因在进化上是有利的,它很可能是通过突变来增强对疟疾的抵抗力。

作者总结说:“总而言之,根据人类进化的特点,我们认为,BAFF相关基因的突变是人类对疟疾的适应性反应的结果,但也导致当今时代自身免疫性疾病的发生。”

原始出处:

Maristella Steri, et al. Overexpression of the Cytokine BAFF and Autoimmunity Risk. N Engl J Med 2017; 376:1615-1626April 27, 2017DOI: 10.1056/NEJMoa1610528.

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    2017-10-01 jml2009
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    2017-08-21 haouestc
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createdName=haouestc, createdTime=Mon Aug 21 10:01:00 CST 2017, time=2017-08-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2016979, encodeId=23e220169e9ba, content=<a href='/topic/show?id=9760e69058c' target=_blank style='color:#2F92EE;'>#系统性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=76905, encryptionId=9760e69058c, topicName=系统性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2b9b368, createdName=qingrejiedu, createdTime=Tue Aug 08 11:01:00 CST 2017, time=2017-08-08, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2081386, encodeId=1c5c208138618, content=<a href='/topic/show?id=57406e8506' target=_blank style='color:#2F92EE;'>#Eng#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=6785, encryptionId=57406e8506, topicName=Eng)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=3516494, createdName=spoonycyy, createdTime=Sun Sep 03 05:01:00 CST 2017, time=2017-09-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342412, encodeId=b1381342412aa, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=40, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=38102, encryptionId=34cb381023e, topicName=变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=78c32500188, createdName=12498dabm77暂无昵称, createdTime=Wed Jul 19 13:01:00 CST 2017, time=2017-07-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1377184, encodeId=76ba13e7184b7, content=<a href='/topic/show?id=007d9506920' target=_blank style='color:#2F92EE;'>#遗传变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=49, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95069, encryptionId=007d9506920, topicName=遗传变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=73a3403, createdName=weihongyv, createdTime=Wed Jul 19 13:01:00 CST 2017, time=2017-07-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1387205, encodeId=eec2138e20574, content=<a href='/topic/show?id=8a3a6814425' target=_blank style='color:#2F92EE;'>#狼疮#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=68144, encryptionId=8a3a6814425, topicName=狼疮)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7a6e2500005, createdName=sunrural_42825357, createdTime=Wed Jul 19 13:01:00 CST 2017, time=2017-07-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1436106, encodeId=288e14361062e, content=<a href='/topic/show?id=22f8e71238d' target=_blank style='color:#2F92EE;'>#红斑#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=77123, encryptionId=22f8e71238d, topicName=红斑)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Wed Jul 19 13:01:00 CST 2017, time=2017-07-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1607837, encodeId=19ab160e837c2, content=<a href='/topic/show?id=eb6b1145939' target=_blank style='color:#2F92EE;'>#Med#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=11459, encryptionId=eb6b1145939, topicName=Med)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=552a19396740, createdName=ms3994565386320060, createdTime=Wed Jul 19 13:01:00 CST 2017, time=2017-07-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=223557, encodeId=942f22355e80, content=学习了很多很多, beContent=null, objectType=article, channel=null, level=null, likeNumber=77, 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=Tue Jul 18 13:34:12 CST 2017, time=2017-07-18, status=1, ipAttribution=)]
    2017-09-03 spoonycyy
  5. 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createdAvatar=null, createdBy=552a19396740, createdName=ms3994565386320060, createdTime=Wed Jul 19 13:01:00 CST 2017, time=2017-07-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=223557, encodeId=942f22355e80, content=学习了很多很多, beContent=null, objectType=article, channel=null, level=null, likeNumber=77, 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=Tue Jul 18 13:34:12 CST 2017, time=2017-07-18, status=1, ipAttribution=)]
  6. 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  7. 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  8. 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createdAvatar=null, createdBy=552a19396740, createdName=ms3994565386320060, createdTime=Wed Jul 19 13:01:00 CST 2017, time=2017-07-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=223557, encodeId=942f22355e80, content=学习了很多很多, beContent=null, objectType=article, channel=null, level=null, likeNumber=77, 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=Tue Jul 18 13:34:12 CST 2017, time=2017-07-18, status=1, ipAttribution=)]
    2017-07-19 zhouqu_8
  9. 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    2017-07-18 虈亣靌

    学习了很多很多

    0

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《自然-遗传学》发表的论文,描述了人第一次啪啪啪的年龄有关的遗传变异。该研究揭示了进入青春期的时间如何可能影响第一次性行为年龄,以及这两者是如何影响一个人的社会和健康状况。

Lancet:锂治疗双相情感障碍的反应差异与遗传变异有关(GWAS方法)

Lithium是治疗双相情感障碍的一线药物,但是患者对此药的治疗反应各异。既往研究表明,患者对Lithium治疗的反应是一种遗传特性。然而,目前尚未确定与治疗反应相关的基因标志物。

PNAS:造成多种癌症中特异基因高表达的遗传变异被发现

近期的PNAS报道了美国匹兹堡大学的研究人员用下一代测序的技术来分析甲状腺癌中未知的基因突变,发现了一个显著的遗传变异会导致IGF1R信号通路的重要组成表达水平升高,此变化在其它类型癌症中也出现。这一个遗传变化可作为药物反应标记应用于临床。

NATURE GENETICS:遗传变异影响多重性状

在线发表于《自然—遗传学》的一项研究报告了能引起超过1种人类疾病或性状的遗传变异。该研究显示,表面似乎无关的症状,例如偏头疼和冠状动脉疾病,可能与潜在遗传因素部分重叠。科学家还鉴别出一些性状可能与其他性状互为因果效应的情况。 全基因组关联研究能识别与一种性状在统计学上相关的遗传变异,以及可能导致一种特征的变异。与多重性状有关的变异有助于理解基因的分子功能和不同性状间的联系。但针对多重性状的大部分研

Nat Genet:15个能够引发抑郁的遗传变异

(图片摘自www.sciencealert.com)抑郁症(major depression disorder)是世界上最严重的精神疾病,而且有致命的危险。然而,几十年来科学家们对造成抑郁症的遗传原因知之甚少。 最近一项发表在《nature genetics》杂志上的一篇文章中, 研究者们通过对23 and me 公司提供的几千名志愿者的信息数据进行分析,发现与抑郁症有关的17个遗传标记(SNP

Nat Genet:与酒精性肝硬化相关的数个遗传变异

在线发表于《自然—遗传学》上的一项研究公布了数个与重度饮酒者肝硬化或肝损伤风险增加有关的遗传变异。该研究揭示了饮酒导致的肝硬化和非饮酒因素导致的脂肪肝有着共同的遗传风险因素。 大多数重度饮酒者都会产生脂肪肝,但只有10%~15%会发展出肝硬化。先前研究认为,遗传对肝硬化患病风险有一定作用,但至今只有PNPLA3这一种基因被确定为相关的遗传变异。 Felix Stickel等人对来自