Diabetic Med：儿童1A型糖尿病中PTPN2的蛋白质变异

2018-07-04 MedSci MedSci原创

近日，国际杂志《Diabetic Med》上在线发表一项关于儿童1A型糖尿病中PTPN2的蛋白质变异的研究。研究PTPN2编码变异对儿童1A型糖尿病发病风险的贡献。研究人员对169名1A型糖尿病的日本儿童进行了PTPN2突变分析。研究人员搜索了一般人群中缺少或极为罕见的编码变体，并通过多个计算机程序对其进行评分。如有可能，研究人员对检测到的变体进行mRNA分析和三维结构预测。研究人员还

近日，国际杂志《Diabetic Med》上在线发表一项关于儿童1A型糖尿病中PTPN2的蛋白质变异的研究。研究PTPN2编码变异对儿童1A型糖尿病发病风险的贡献。

研究人员对169名1A型糖尿病的日本儿童进行了PTPN2突变分析。研究人员搜索了一般人群中缺少或极为罕见的编码变体，并通过多个计算机程序对其进行评分。如有可能，研究人员对检测到的变体进行mRNA分析和三维结构预测。研究人员还检查了这些变异与之前报告的风险SNP以及变异阳性儿童的临床信息之间可能的物理联系。

分别在一个小孩身上发现一个移码变体（p.Q286Yfs * 24）和两个可能具有破坏性的错义替换（p.C232W和p.R350Q）。其中，p.Q286Yfs * 24和p.C232W迄今尚未报道，而p.R350Q占外显子组数据集的2 / 121,122个等位基因。p.Q286Yfs * 24变体不编码稳定的mRNA，并且p.C232W似乎影响酪氨酸 - 蛋白磷酸酶结构域。这三种变体与已知的风险SNP在物理上无关。变异阳性儿童表现出1A型糖尿病，没有额外的临床特征，并且总是携带有风险人类白细胞抗原等位基因。

本研究结果提供了第一个，独立于已知的风险SNP，即PTPN2变异体与1A型糖尿病的风险有关。PTPN2编码变体可能在具有人类白细胞抗原介导的疾病易感性的个体中诱导非特异性1A型糖尿病表型。研究人员的发现值得进一步验证。

原始出处：

M. Okuno，T. Ayabe，I. Yokota，et al. Protein‐altering variants of PTPN2 in childhood‐onset Type 1A diabetes

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createdName=清风拂面, createdTime=Wed Jul 04 14:39:46 CST 2018, time=2018-07-04, status=1, ipAttribution=)]
2019-04-29 chenzhuanggui

#Diabetic#

81 0
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beContent=null, objectType=article, channel=null, level=null, likeNumber=54, 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=Fri Jul 06 05:02:00 CST 2018, time=2018-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1608939, encodeId=03241608939b9, content=<a href='/topic/show?id=eb6b1145939' target=_blank style='color:#2F92EE;'>#Med#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=86, 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=Fri Jul 06 05:02:00 CST 2018, time=2018-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=329570, encodeId=1a093295e0c5, content=学习了.谢谢分享., beContent=null, objectType=article, channel=null, level=null, likeNumber=140, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Thu Jul 05 19:25:21 CST 2018, time=2018-07-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=329241, encodeId=fe95329241aa, content=谢谢分享学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=125, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/Q3auHgzwzM4o2XVpJ6449yqDsjibydI5HnJ8MibGxNn4HZiaZib0bdfibbwoz3KQrIyN9AGxq36ZlZRNicYlPfOOWMtwgsajY6mGNFiaPclFdowjD0/0, createdBy=97bd1338592, createdName=清风拂面, createdTime=Wed Jul 04 14:39:46 CST 2018, time=2018-07-04, status=1, ipAttribution=)]
2018-07-06 cmj8wellington

#蛋白质#

87 0
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createdName=清风拂面, createdTime=Wed Jul 04 14:39:46 CST 2018, time=2018-07-04, status=1, ipAttribution=)]
2018-07-06 12498dabm77暂无昵称

#变异#

54 0
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beContent=null, objectType=article, channel=null, level=null, likeNumber=54, 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=Fri Jul 06 05:02:00 CST 2018, time=2018-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1608939, encodeId=03241608939b9, content=<a href='/topic/show?id=eb6b1145939' target=_blank style='color:#2F92EE;'>#Med#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=86, 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=Fri Jul 06 05:02:00 CST 2018, time=2018-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=329570, encodeId=1a093295e0c5, content=学习了.谢谢分享., beContent=null, objectType=article, channel=null, level=null, likeNumber=140, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Thu Jul 05 19:25:21 CST 2018, time=2018-07-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=329241, encodeId=fe95329241aa, content=谢谢分享学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=125, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/Q3auHgzwzM4o2XVpJ6449yqDsjibydI5HnJ8MibGxNn4HZiaZib0bdfibbwoz3KQrIyN9AGxq36ZlZRNicYlPfOOWMtwgsajY6mGNFiaPclFdowjD0/0, createdBy=97bd1338592, createdName=清风拂面, createdTime=Wed Jul 04 14:39:46 CST 2018, time=2018-07-04, status=1, ipAttribution=)]
2018-07-06 ms3994565386320060

#Med#

86 0
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createdBy=9a1a37427546, createdName=ms5439512287675881, createdTime=Fri Jul 13 06:02:00 CST 2018, time=2018-07-13, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1765727, encodeId=b6b61e65727a1, content=<a href='/topic/show?id=252ae1803a3' target=_blank style='color:#2F92EE;'>#白质#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=55, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=71803, encryptionId=252ae1803a3, topicName=白质)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=778d36, createdName=柳叶一刀, createdTime=Sat Jan 26 23:02:00 CST 2019, time=2019-01-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1970605, encodeId=b0ee19e0605f0, content=<a href='/topic/show?id=fa5d5919df' target=_blank style='color:#2F92EE;'>#Diabetic#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=81, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5919, encryptionId=fa5d5919df, topicName=Diabetic)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=8949377, createdName=chenzhuanggui, createdTime=Mon Apr 29 16:02:00 CST 2019, time=2019-04-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1297045, encodeId=5990129e0459f, content=<a href='/topic/show?id=158288e017c' target=_blank style='color:#2F92EE;'>#蛋白质#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=87, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=88701, encryptionId=158288e017c, topicName=蛋白质)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c689267, createdName=cmj8wellington, createdTime=Fri Jul 06 05:02:00 CST 2018, time=2018-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342496, encodeId=c04d1342496fe, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, 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GetPortalCommentsPageByObjectIdResponse(id=329570, encodeId=1a093295e0c5, content=学习了.谢谢分享., beContent=null, objectType=article, channel=null, level=null, likeNumber=140, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Thu Jul 05 19:25:21 CST 2018, time=2018-07-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=329241, encodeId=fe95329241aa, content=谢谢分享学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=125, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/Q3auHgzwzM4o2XVpJ6449yqDsjibydI5HnJ8MibGxNn4HZiaZib0bdfibbwoz3KQrIyN9AGxq36ZlZRNicYlPfOOWMtwgsajY6mGNFiaPclFdowjD0/0, createdBy=97bd1338592, createdName=清风拂面, createdTime=Wed Jul 04 14:39:46 CST 2018, time=2018-07-04, status=1, ipAttribution=)]
2018-07-05 惠映实验室

学习了.谢谢分享.

140 0
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GetPortalCommentsPageByObjectIdResponse(id=329570, encodeId=1a093295e0c5, content=学习了.谢谢分享., beContent=null, objectType=article, channel=null, level=null, likeNumber=140, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Thu Jul 05 19:25:21 CST 2018, time=2018-07-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=329241, encodeId=fe95329241aa, content=谢谢分享学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=125, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/Q3auHgzwzM4o2XVpJ6449yqDsjibydI5HnJ8MibGxNn4HZiaZib0bdfibbwoz3KQrIyN9AGxq36ZlZRNicYlPfOOWMtwgsajY6mGNFiaPclFdowjD0/0, createdBy=97bd1338592, createdName=清风拂面, createdTime=Wed Jul 04 14:39:46 CST 2018, time=2018-07-04, status=1, ipAttribution=)]
2018-07-04 清风拂面

谢谢分享学习

125 0

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