英国和法国的研究人员发现了与阿尔茨海默症(俗称老年痴呆症)有关的3个基因。
据英国广播公司报道,这是16年来研究人员首次找到阿尔茨海默症与基因有关联的新证据。过去唯一找到的和一般老年痴呆症有关的基因APOE4一直是研究的焦点。
在最新的研究中,英法科学家对两万人的染色体样本进行了分析,发现了CR1、CLU和PICALM三个基因与阿尔茨海默症之间的关系。
报道称,CLU和PICALM基因都有保护大脑的功能。研究人员说,如果基因有变异,不仅可能失去保护大脑的功能,甚至保护者还有可能成为“攻击者”。
这项研究成果发表在最新出版的《自然—遗传学》杂志上。它将促使科学家重新审视现在的有关阿尔茨海默症病因的理论。此外,研究成果还有助于医学界研发新的诊断、治疗手段。
英国“阿尔茨海默研究基金会”将这项新发现称为向前迈出了“一大步”。
据估计,全世界共有3000万阿尔茨海默症患者。而这一数字还将继续增长。(生物谷Bioon.com)
生物谷推荐原始出处:
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).