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Arthritis & Rheumatology: 中国的全基因组关联研究确定了白塞病葡萄膜炎的新风险位点

2021-10-26 MedSci原创 MedSci原创

白塞病 (BD) 是一种全身炎症性疾病,通常表现为复发性口腔和生殖器溃疡、葡萄膜炎、皮肤损伤,甚至炎症神经和胃肠系统。这篇研究探索与白塞病(BD)葡萄膜炎相关的易感位点。

      目的:白塞病 (BD) 是一种全身炎症性疾病,通常表现为复发性口腔和生殖器溃疡、葡萄膜炎、皮肤损伤,甚至炎症神经和胃肠系统。这篇研究探索与白塞病(BD)葡萄膜炎相关的易感位点

      方法:来自重庆医科大学的研究者及全国多家眼科中心/医院合作者进行了一项全基因组关联研究 (GWAS),主要包括978BD葡萄膜炎病例和4388名对照,并在中国人群中对953BD葡萄膜炎病例和2129名对照进行了复制研究。GWAS基因分型采用Illumina Human Omni ZhongHua-8芯片。非HLA区域的SNP采用Sequenom MassARRAY系统进行验证。进行全基因组通路关联分析和eQTL分析。进行荧光素酶报告基因分析和染色质免疫沉淀 (ChIP) 分析以探索ZMIZ1附近易感性遗传变异的功能作用。

     结果:在BD葡萄膜炎的全基因组关联中鉴定了三个独立的HLA等位基因(HLA-B51HLA-A26HLA-C0704)。在非HLA区域,除了确认7个先前报告的基因位点外,研究者还鉴定出了位于16个基因位点的22个新的易感性变异。对包含1931名病例和6517名对照的中国队列以及已发表的611例和737名对照的日本队列进行的荟萃分析显示,与ZMIZ1RPS6KA4IL10RASIPA1-FIBP-FOSL1VAMP1的全基因组显著关联。功能实验表明,ZMIZ1的遗传变异与其转录活性增强及ZMIZ1表达增加有关

    结论这项GWAS研究确定了一组新的遗传变异,这些变异与BD葡萄膜炎的易感性相关。这些发现增强了我们对遗传因素在BD葡萄膜炎中作用的理解。 

 

出处:

Su G, Zhong Z, Zhou Q, Du L, Ye Z, Li F, Zhuang W, Wang C, Liang L, Ji Y, Cao Q, Wang Q, Chang R, Tan H, Yi S, Li Y, Feng X, Liao W, Zhang W, Shu J, Tan S, Xu J, Pan S, Li H, Shi J, Chen Z, Zhu Y, Ye X, Tan X, Zhang J, Liu Z, Huang F, Yuan G, Pang T, Liu Y, Ding J, Gao Y, Zhang M, Chi W, Liu X, Wang Y, Chen L, Meguro A, Takeuchi M, Mizuki N, Ohno S, Zuo X, Kijlstra A, Yang P. A genome-wide association study in Chinese identifies novel risk loci for Behcet's uveitis. Arthritis Rheumatol. 2021 Oct 15. doi: 10.1002/art.41998. Epub ahead of print. PMID: 34652073.

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  5. [GetPortalCommentsPageByObjectIdResponse(id=1214618, encodeId=c23412146180a, content=<a href='/topic/show?id=d945e1670d9' target=_blank style='color:#2F92EE;'>#白塞病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=113, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=71670, encryptionId=d945e1670d9, topicName=白塞病)], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211210/ede9c51184aa4f54ae6c1164cfb8eeac/967dbf3eff2943c7bf3ccfec3a776ab0.JPG, createdBy=a33789389, createdName=病毒猎手, createdTime=Tue Apr 26 15:38:11 CST 2022, time=2022-04-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2062558, encodeId=e9f0206255896, content=<a href='/topic/show?id=872c15438a4' target=_blank style='color:#2F92EE;'>#Rheumatology#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=74, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=15438, encryptionId=872c15438a4, topicName=Rheumatology)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=3307462, createdName=风铃821, createdTime=Mon Jan 17 18:25:48 CST 2022, time=2022-01-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1972777, encodeId=1ab219e277773, content=<a href='/topic/show?id=8a6a2e8839' target=_blank style='color:#2F92EE;'>#Arthritis#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=72, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2788, encryptionId=8a6a2e8839, topicName=Arthritis)], attachment=null, authenticateStatus=null, createdAvatar=https://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTIibticIBly5jCSic5ZElW4He3rO4DMpUHUFaFX57OicNMnzckWaicBNeStwugWHFCuOdicoakApM4HGmtw/132, createdBy=f8672500006, createdName=ms6390871039024434, createdTime=Sun Jul 31 00:25:48 CST 2022, time=2022-07-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342226, encodeId=54a11342226e2, content=<a href='/topic/show?id=62eb2939954' target=_blank style='color:#2F92EE;'>#全基因组关联研究#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=93, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=29399, encryptionId=62eb2939954, topicName=全基因组关联研究)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=636e2500187, createdName=12498da4m32(暂无昵称), createdTime=Thu Oct 28 00:25:48 CST 2021, time=2021-10-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1357816, encodeId=493c135e816e9, content=<a href='/topic/show?id=b0702e84b9' target=_blank style='color:#2F92EE;'>#ART#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=79, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2784, encryptionId=b0702e84b9, topicName=ART)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=8e886, createdName=仁者大医, createdTime=Thu Oct 28 00:25:48 CST 2021, time=2021-10-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1546563, encodeId=c8201546563cf, content=<a href='/topic/show?id=81eb2939373' target=_blank style='color:#2F92EE;'>#全基因组#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=81, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=29393, encryptionId=81eb2939373, topicName=全基因组)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=dc2113925052, createdName=ms1692810954239974, createdTime=Thu Oct 28 00:25:48 CST 2021, time=2021-10-28, status=1, ipAttribution=)]
    2021-10-28 仁者大医
  6. [GetPortalCommentsPageByObjectIdResponse(id=1214618, encodeId=c23412146180a, content=<a href='/topic/show?id=d945e1670d9' target=_blank style='color:#2F92EE;'>#白塞病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=113, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=71670, encryptionId=d945e1670d9, topicName=白塞病)], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211210/ede9c51184aa4f54ae6c1164cfb8eeac/967dbf3eff2943c7bf3ccfec3a776ab0.JPG, createdBy=a33789389, createdName=病毒猎手, createdTime=Tue Apr 26 15:38:11 CST 2022, time=2022-04-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2062558, encodeId=e9f0206255896, content=<a href='/topic/show?id=872c15438a4' target=_blank style='color:#2F92EE;'>#Rheumatology#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=74, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=15438, encryptionId=872c15438a4, topicName=Rheumatology)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=3307462, createdName=风铃821, createdTime=Mon Jan 17 18:25:48 CST 2022, time=2022-01-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1972777, encodeId=1ab219e277773, content=<a href='/topic/show?id=8a6a2e8839' target=_blank style='color:#2F92EE;'>#Arthritis#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=72, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2788, encryptionId=8a6a2e8839, topicName=Arthritis)], attachment=null, authenticateStatus=null, createdAvatar=https://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTIibticIBly5jCSic5ZElW4He3rO4DMpUHUFaFX57OicNMnzckWaicBNeStwugWHFCuOdicoakApM4HGmtw/132, createdBy=f8672500006, createdName=ms6390871039024434, createdTime=Sun Jul 31 00:25:48 CST 2022, time=2022-07-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342226, encodeId=54a11342226e2, content=<a href='/topic/show?id=62eb2939954' target=_blank style='color:#2F92EE;'>#全基因组关联研究#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=93, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=29399, encryptionId=62eb2939954, topicName=全基因组关联研究)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=636e2500187, createdName=12498da4m32(暂无昵称), createdTime=Thu Oct 28 00:25:48 CST 2021, time=2021-10-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1357816, encodeId=493c135e816e9, content=<a href='/topic/show?id=b0702e84b9' target=_blank style='color:#2F92EE;'>#ART#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=79, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2784, encryptionId=b0702e84b9, topicName=ART)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=8e886, createdName=仁者大医, createdTime=Thu Oct 28 00:25:48 CST 2021, time=2021-10-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1546563, encodeId=c8201546563cf, content=<a href='/topic/show?id=81eb2939373' target=_blank style='color:#2F92EE;'>#全基因组#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=81, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=29393, encryptionId=81eb2939373, topicName=全基因组)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=dc2113925052, createdName=ms1692810954239974, createdTime=Thu Oct 28 00:25:48 CST 2021, time=2021-10-28, status=1, ipAttribution=)]
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