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Diabetes Care：专门导致餐后血糖飙升的基因变异

2016-08-30 Moon 译 MedSci原创

TBC1D4糖尿病血糖
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近期发现，TBC1D4基因的常见无义突变与餐后血糖增高有关，会导致格陵兰因纽特人2型糖尿病风险的大幅增加有关。我们对加拿大和阿拉斯加因纽特人进行了研究，探究TBC1D4突变频率，以及对血糖代谢和2型糖尿病诊断的影响。 对114名来自加拿大努纳维克的因纽特人进行了TBC1D4变异的外显子组测序；对1027名来自阿拉斯加本地人冠状动脉疾病的遗传学研究(GOCADAN)的阿拉斯加因纽特人进行了Sa

近期发现，TBC1D4基因的常见无义突变与餐后血糖增高有关，会导致格陵兰因纽特人2型糖尿病风险的大幅增加有关。我们对加拿大和阿拉斯加因纽特人进行了研究，探究TBC1D4突变频率，以及对血糖代谢和2型糖尿病诊断的影响。

对114名来自加拿大努纳维克的因纽特人进行了TBC1D4变异的外显子组测序；对1027名来自阿拉斯加本地人冠状动脉疾病的遗传学研究(GOCADAN)的阿拉斯加因纽特人进行了Sanger测序。研究者评估了TBC1D4变异对糖尿病相关代谢特征和诊断的影响。

数据显示，加拿大和阿拉斯加因纽特人TBC1D4突变率为27%。纯合子携带者与更高的口服葡萄糖负荷2小时后血糖（规模效应 +3.3 mmol/L; P = 2.5 x10-6）和胰岛素（规模效应 +175 pmol/L; P = 0.04）有关。糖尿病前期和2型糖尿病患者，如果是TBC1D4携带者（与非携带者相比），只能通过测量餐后血糖进行诊断（OR 5.4 [95% CI 2.5-12]）。糖尿病前期和2型糖尿病患者中的其他携带者，有32%的患者如果不进行口服葡萄糖耐量试验（OGTT），则无法诊断。

结果表明，北美因纽特人中TBC1D4变异是常见的，专门导致餐后血糖升高。如果不进行OGTT，就会有部分2型糖尿病漏诊。遗传因素评估对因纽特人糖尿病评估和护理方面提供了精确医学的机会。

原始出处：

Manousaki D.et al.Toward Precision Medicine: TBC1D4 Disruption Is Common Among the Inuit and Leads to Underdiagnosis of Type 2 Diabetes.Diabetes Care. 2016 Aug 25. pii: dc160769. [Epub ahead of print]

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    2017-07-23 zhouqu_8

    #Diabetes#

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    2017-01-05 ms5439512287675881

    #BET#

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CST 2016, time=2016-09-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1488449, encodeId=168914884492d, content=<a href='/topic/show?id=019e1011e589' target=_blank style='color:#2F92EE;'>#餐后血糖#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=101175, encryptionId=019e1011e589, topicName=餐后血糖)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=76df8418429, createdName=gjsgj, createdTime=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=)]
    2016-09-22 ms9608593228839890

    #DIA#

    0

  4. 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encodeId=5f7d13141415d, content=<a href='/topic/show?id=b5e641e1279' target=_blank style='color:#2F92EE;'>#基因变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41712, encryptionId=b5e641e1279, topicName=基因变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=512d422, createdName=canlab, createdTime=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342352, encodeId=dc37134235267, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, 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=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1488449, encodeId=168914884492d, content=<a href='/topic/show?id=019e1011e589' target=_blank style='color:#2F92EE;'>#餐后血糖#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=101175, encryptionId=019e1011e589, topicName=餐后血糖)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=76df8418429, createdName=gjsgj, createdTime=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=)]
    2016-09-20 1e10c84am36(暂无匿称)

    文章很好，非常有益

    0

  5. 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CST 2016, time=2016-09-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1488449, encodeId=168914884492d, content=<a href='/topic/show?id=019e1011e589' target=_blank style='color:#2F92EE;'>#餐后血糖#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=101175, encryptionId=019e1011e589, topicName=餐后血糖)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=76df8418429, createdName=gjsgj, createdTime=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=)]
    2016-09-12 舒心和人

    基因突变的事情无法左右，但餐后适量运动可以一定程度降低餐后血糖

    0

  6. 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CST 2016, time=2016-09-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1488449, encodeId=168914884492d, content=<a href='/topic/show?id=019e1011e589' target=_blank style='color:#2F92EE;'>#餐后血糖#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=101175, encryptionId=019e1011e589, topicName=餐后血糖)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=76df8418429, createdName=gjsgj, createdTime=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=)]
    2016-09-05 李东泽

    很好，不错，以后会多学习

    0

  7. 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topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzdAIB7UwTkHt6fQkBP8ictliaXtc5gCUmYdAW1sAETC2nhO3q6YjRHkUibyOCtP8ibmXNObTyd63A076/0, createdBy=d4111948983, createdName=1e10c84am36(暂无匿称), createdTime=Tue Sep 20 22:09:00 CST 2016, time=2016-09-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=123871, encodeId=dfdf1238e128, content=基因突变的事情无法左右，但餐后适量运动可以一定程度降低餐后血糖, beContent=null, objectType=article, channel=null, level=null, likeNumber=54, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160907/IMG57D00CF1965701770.jpg, createdBy=565c1948251, createdName=舒心和人, createdTime=Mon Sep 12 19:11:00 CST 2016, time=2016-09-12, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=111571, encodeId=01b71115e16a, content=很好，不错，以后会多学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzUn81b5CF5ibVPib8jWI92iciaxmqGHlwruOnK4SVZykd4iahqo1hicklIibyZoxm55X7EM8BW9eX1h1hQ2/0, createdBy=8aa81937526, createdName=李东泽, createdTime=Mon Sep 05 16:43:00 CST 2016, time=2016-09-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=109873, encodeId=ca851098e344, content=学习一下，好, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2017/11/23/ac01daf0962458a9eb8c0b1e2f6ce5bc.jpg, createdBy=04b81710322, createdName=1771ae4158m, createdTime=Fri Sep 02 21:49:00 CST 2016, time=2016-09-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1314141, encodeId=5f7d13141415d, content=<a href='/topic/show?id=b5e641e1279' target=_blank style='color:#2F92EE;'>#基因变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41712, encryptionId=b5e641e1279, topicName=基因变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=512d422, createdName=canlab, createdTime=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342352, encodeId=dc37134235267, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, 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=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1488449, encodeId=168914884492d, content=<a href='/topic/show?id=019e1011e589' target=_blank style='color:#2F92EE;'>#餐后血糖#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=101175, encryptionId=019e1011e589, topicName=餐后血糖)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=76df8418429, createdName=gjsgj, createdTime=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=)]
    2016-09-02 1771ae4158m

    学习一下，好

    0

  8. 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objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzUn81b5CF5ibVPib8jWI92iciaxmqGHlwruOnK4SVZykd4iahqo1hicklIibyZoxm55X7EM8BW9eX1h1hQ2/0, createdBy=8aa81937526, createdName=李东泽, createdTime=Mon Sep 05 16:43:00 CST 2016, time=2016-09-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=109873, encodeId=ca851098e344, content=学习一下，好, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2017/11/23/ac01daf0962458a9eb8c0b1e2f6ce5bc.jpg, createdBy=04b81710322, createdName=1771ae4158m, createdTime=Fri Sep 02 21:49:00 CST 2016, time=2016-09-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1314141, 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CST 2016, time=2016-09-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1488449, encodeId=168914884492d, content=<a href='/topic/show?id=019e1011e589' target=_blank style='color:#2F92EE;'>#餐后血糖#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=101175, encryptionId=019e1011e589, topicName=餐后血糖)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=76df8418429, createdName=gjsgj, createdTime=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=)]
    2016-09-01 canlab

    #基因变异#

    0

  9. 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topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzdAIB7UwTkHt6fQkBP8ictliaXtc5gCUmYdAW1sAETC2nhO3q6YjRHkUibyOCtP8ibmXNObTyd63A076/0, createdBy=d4111948983, createdName=1e10c84am36(暂无匿称), createdTime=Tue Sep 20 22:09:00 CST 2016, time=2016-09-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=123871, encodeId=dfdf1238e128, content=基因突变的事情无法左右，但餐后适量运动可以一定程度降低餐后血糖, beContent=null, objectType=article, channel=null, level=null, likeNumber=54, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160907/IMG57D00CF1965701770.jpg, createdBy=565c1948251, createdName=舒心和人, createdTime=Mon Sep 12 19:11:00 CST 2016, time=2016-09-12, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=111571, encodeId=01b71115e16a, content=很好，不错，以后会多学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzUn81b5CF5ibVPib8jWI92iciaxmqGHlwruOnK4SVZykd4iahqo1hicklIibyZoxm55X7EM8BW9eX1h1hQ2/0, createdBy=8aa81937526, createdName=李东泽, createdTime=Mon Sep 05 16:43:00 CST 2016, time=2016-09-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=109873, encodeId=ca851098e344, content=学习一下，好, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2017/11/23/ac01daf0962458a9eb8c0b1e2f6ce5bc.jpg, createdBy=04b81710322, createdName=1771ae4158m, createdTime=Fri Sep 02 21:49:00 CST 2016, time=2016-09-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1314141, encodeId=5f7d13141415d, content=<a href='/topic/show?id=b5e641e1279' target=_blank style='color:#2F92EE;'>#基因变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41712, encryptionId=b5e641e1279, topicName=基因变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=512d422, createdName=canlab, createdTime=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342352, encodeId=dc37134235267, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, 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=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1488449, encodeId=168914884492d, content=<a href='/topic/show?id=019e1011e589' target=_blank style='color:#2F92EE;'>#餐后血糖#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=101175, encryptionId=019e1011e589, topicName=餐后血糖)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=76df8418429, createdName=gjsgj, createdTime=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=)]
    2016-09-01 12498dabm77暂无昵称

    #变异#

    0

  10. 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encryptionId=9bea33520d, topicName=BET)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9a1a37427546, createdName=ms5439512287675881, createdTime=Thu Jan 05 14:11:00 CST 2017, time=2017-01-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1637441, encodeId=6ee9163e4412a, content=<a href='/topic/show?id=afda591646' target=_blank style='color:#2F92EE;'>#DIA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=23, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5916, encryptionId=afda591646, topicName=DIA)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=987022654425, createdName=ms9608593228839890, createdTime=Thu Sep 22 08:11:00 CST 2016, time=2016-09-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=131615, encodeId=a3db131615f0, content=文章很好，非常有益, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzdAIB7UwTkHt6fQkBP8ictliaXtc5gCUmYdAW1sAETC2nhO3q6YjRHkUibyOCtP8ibmXNObTyd63A076/0, createdBy=d4111948983, createdName=1e10c84am36(暂无匿称), createdTime=Tue Sep 20 22:09:00 CST 2016, time=2016-09-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=123871, encodeId=dfdf1238e128, content=基因突变的事情无法左右，但餐后适量运动可以一定程度降低餐后血糖, beContent=null, objectType=article, channel=null, level=null, likeNumber=54, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160907/IMG57D00CF1965701770.jpg, createdBy=565c1948251, createdName=舒心和人, createdTime=Mon Sep 12 19:11:00 CST 2016, time=2016-09-12, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=111571, encodeId=01b71115e16a, content=很好，不错，以后会多学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzUn81b5CF5ibVPib8jWI92iciaxmqGHlwruOnK4SVZykd4iahqo1hicklIibyZoxm55X7EM8BW9eX1h1hQ2/0, createdBy=8aa81937526, createdName=李东泽, createdTime=Mon Sep 05 16:43:00 CST 2016, time=2016-09-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=109873, encodeId=ca851098e344, content=学习一下，好, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2017/11/23/ac01daf0962458a9eb8c0b1e2f6ce5bc.jpg, createdBy=04b81710322, createdName=1771ae4158m, createdTime=Fri Sep 02 21:49:00 CST 2016, time=2016-09-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1314141, encodeId=5f7d13141415d, content=<a href='/topic/show?id=b5e641e1279' target=_blank style='color:#2F92EE;'>#基因变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41712, encryptionId=b5e641e1279, topicName=基因变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=512d422, createdName=canlab, createdTime=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342352, encodeId=dc37134235267, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, 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=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1488449, encodeId=168914884492d, content=<a href='/topic/show?id=019e1011e589' target=_blank style='color:#2F92EE;'>#餐后血糖#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=101175, encryptionId=019e1011e589, topicName=餐后血糖)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=76df8418429, createdName=gjsgj, createdTime=Thu Sep 01 05:11:00 CST 2016, time=2016-09-01, status=1, ipAttribution=)]
    2016-09-01 gjsgj

    #餐后血糖#

    0

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