Nat Genet:科学家发现老年痴呆症相关基因变异

2013-11-25 张笑 中国科学报

据《自然—遗传学》Nature Genetics上的一项研究显示,科学家们找到了阿尔茨海默氏症(俗称老年痴呆症)的多个遗传变异。【原文下载】 Philippe Amouyel等人开展了一项大范围关联分析,对17008名老年痴呆症患者进行全基因组关联研究,并选取37154名健康个体作为对照组,之后再对另外8572名患者进行了第二阶段研究,选取11312名健康个体作为对照组。除了之前已发现的AP

据《自然—遗传学》Nature Genetics上的一项研究显示,科学家们找到了阿尔茨海默氏症(俗称老年痴呆症)的多个遗传变异。【原文下载

Philippe Amouyel等人开展了一项大范围关联分析,对17008名老年痴呆症患者进行全基因组关联研究,并选取37154名健康个体作为对照组,之后再对另外8572名患者进行了第二阶段研究,选取11312名健康个体作为对照组。除了之前已发现的APOE基因组的关联外,他们发现了19个对晚发型老年痴呆症具有重要影响的基因组区域,其中11个属于易感性基因座。

Amouyel的这项发现印证了之前老年痴呆症病理学涉及到的几个途径,包括免疫反应、炎症、细胞迁移和类脂运输通路。

此外,研究人员还提出了一些可能对患病风险有影响的其他基因和通路。

原文出处

Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, Jun G, Destefano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Hollingworth P, Ramirez A, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Morón FJ, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F; European Alzheimer's Disease Initiative (EADI); Genetic and Environmental Risk in Alzheimer's Disease (GERAD); Alzheimer's Disease Genetic Consortium (ADGC); Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE), Moebus S, Mecocci P, Del Zompo M, Maier W, Hampel H, Pilotto A, Bullido M, Panza F, Caffarra P, Nacmias B, Gilbert JR, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Wang LS, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Jones L, Haines JL, Holmans PA, Lathrop M, Pericak-Vance MA, Launer LJ, Farrer LA, van Duijn CM, Van Broeckhoven C, Moskvina V, Seshadri S, Williams J, Schellenberg GD, Amouyel P.Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.Nat Genet. 2013 Oct 27.【原文下载

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    2014-04-09 canlab
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    2014-05-18 Boyinsh
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status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1314124, encodeId=498513141244e, 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=36, 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=Wed Nov 27 05:20:00 CST 2013, time=2013-11-27, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342286, encodeId=416113422865b, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, 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 Nov 27 05:20:00 CST 2013, time=2013-11-27, status=1, ipAttribution=)]
    2014-05-15 cy0324
  5. [GetPortalCommentsPageByObjectIdResponse(id=1733662, encodeId=5efe1e3366273, content=<a href='/topic/show?id=d4f412668a4' target=_blank style='color:#2F92EE;'>#NET#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12668, encryptionId=d4f412668a4, topicName=NET)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=7ea033781210, createdName=canlab, createdTime=Wed Apr 09 07:20:00 CST 2014, time=2014-04-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1836078, encodeId=872718360e880, content=<a href='/topic/show?id=4613e1212fc' target=_blank style='color:#2F92EE;'>#痴呆症#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=71212, encryptionId=4613e1212fc, topicName=痴呆症)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=726030, 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status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1314124, encodeId=498513141244e, 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=36, 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=Wed Nov 27 05:20:00 CST 2013, time=2013-11-27, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342286, encodeId=416113422865b, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, 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 Nov 27 05:20:00 CST 2013, time=2013-11-27, status=1, ipAttribution=)]
    2014-09-23 liye789132251
  6. [GetPortalCommentsPageByObjectIdResponse(id=1733662, encodeId=5efe1e3366273, content=<a href='/topic/show?id=d4f412668a4' target=_blank style='color:#2F92EE;'>#NET#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12668, encryptionId=d4f412668a4, topicName=NET)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=7ea033781210, createdName=canlab, createdTime=Wed Apr 09 07:20:00 CST 2014, time=2014-04-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1836078, encodeId=872718360e880, content=<a href='/topic/show?id=4613e1212fc' target=_blank style='color:#2F92EE;'>#痴呆症#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=71212, encryptionId=4613e1212fc, topicName=痴呆症)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=726030, 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createdBy=78c32500188, createdName=12498dabm77暂无昵称, createdTime=Wed Nov 27 05:20:00 CST 2013, time=2013-11-27, status=1, ipAttribution=)]
  7. 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createdBy=78c32500188, createdName=12498dabm77暂无昵称, createdTime=Wed Nov 27 05:20:00 CST 2013, time=2013-11-27, status=1, ipAttribution=)]
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