英國和法國的研究人員發(fā)現(xiàn)了與阿爾茨海默癥(俗稱老年癡呆癥)有關(guān)的3個基因。
據(jù)英國廣播公司報(bào)道,這是16年來研究人員首次找到阿爾茨海默癥與基因有關(guān)聯(lián)的新證據(jù),。過去唯一找到的和一般老年癡呆癥有關(guān)的基因APOE4一直是研究的焦點(diǎn),。
在最新的研究中,,英法科學(xué)家對兩萬人的染色體樣本進(jìn)行了分析,,發(fā)現(xiàn)了CR1、CLU和PICALM三個基因與阿爾茨海默癥之間的關(guān)系,。
報(bào)道稱,,CLU和PICALM基因都有保護(hù)大腦的功能。研究人員說,,如果基因有變異,,不僅可能失去保護(hù)大腦的功能,甚至保護(hù)者還有可能成為“攻擊者”,。
這項(xiàng)研究成果發(fā)表在最新出版的《自然—遺傳學(xué)》雜志上,。它將促使科學(xué)家重新審視現(xiàn)在的有關(guān)阿爾茨海默癥病因的理論。此外,,研究成果還有助于醫(yī)學(xué)界研發(fā)新的診斷,、治療手段。
英國“阿爾茨海默研究基金會”將這項(xiàng)新發(fā)現(xiàn)稱為向前邁出了“一大步”,。
據(jù)估計(jì),,全世界共有3000萬阿爾茨海默癥患者。而這一數(shù)字還將繼續(xù)增長,。(生物谷Bioon.com)
生物谷推薦原始出處:
Nature Genetics 6 September 2009 | doi:10.1038/ng.440
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Denise Harold1,45, Richard Abraham1,45, Paul Hollingworth1,45, Rebecca Sims1, Amy Gerrish1, Marian L Hamshere1, Jaspreet Singh Pahwa1, Valentina Moskvina1, Kimberley Dowzell1, Amy Williams1, Nicola Jones1, Charlene Thomas1, Alexandra Stretton1, Angharad R Morgan1, Simon Lovestone2, John Powell3, Petroula Proitsi3, Michelle K Lupton3, Carol Brayne4, David C Rubinsztein5, Michael Gill6, Brian Lawlor6, Aoibhinn Lynch6, Kevin Morgan7, Kristelle S Brown7, Peter A Passmore8, David Craig8, Bernadette McGuinness8, Stephen Todd8, Clive Holmes9, David Mann10, A David Smith11, Seth Love12, Patrick G Kehoe12, John Hardy13, Simon Mead14, Nick Fox15, Martin Rossor15, John Collinge14, Wolfgang Maier16, Frank Jessen16, Britta Schürmann16, Hendrik van den Bussche17, Isabella Heuser18, Johannes Kornhuber19, Jens Wiltfang20, Martin Dichgans21,22, Lutz Fr?lich23, Harald Hampel24,25, Michael Hüll26, Dan Rujescu25, Alison M Goate27, John S K Kauwe28, Carlos Cruchaga27, Petra Nowotny27, John C Morris27, Kevin Mayo27, Kristel Sleegers29,30, Karolien Bettens29,30, Sebastiaan Engelborghs30,31, Peter P De Deyn30,31, Christine Van Broeckhoven29,30, Gill Livingston32, Nicholas J Bass32, Hugh Gurling32, Andrew McQuillin32, Rhian Gwilliam33, Panagiotis Deloukas33, Ammar Al-Chalabi34, Christopher E Shaw34, Magda Tsolaki35, Andrew B Singleton36, Rita Guerreiro36, Thomas W Mühleisen37,38, Markus M N?then37,38, Susanne Moebus39, Karl-Heinz J?ckel39, Norman Klopp40, H-Erich Wichmann40,41,42, Minerva M Carrasquillo43, V Shane Pankratz44, Steven G Younkin43, Peter A Holmans1, Michael O'Donovan1, Michael J Owen1 & Julie Williams1
We undertook a two-stage genome-wide association study (GWAS) of Alzheimer's disease (AD) involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 (3,941 cases and 7,848 controls), we replicated the established association with the apolipoprotein E (APOE) locus (most significant SNP, rs2075650, P = 1.8 10-157) and observed genome-wide significant association with SNPs at two loci not previously associated with the disease: at the CLU (also known as APOJ) gene (rs11136000, P = 1.4 10-9) and 5' to the PICALM gene (rs3851179, P = 1.9 10-8). These associations were replicated in stage 2 (2,023 cases and 2,340 controls), producing compelling evidence for association with Alzheimer's disease in the combined dataset (rs11136000, P = 8.5 10-10, odds ratio = 0.86; rs3851179, P = 1.3 10-9, odds ratio = 0.86).