The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.
The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.
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DOI：
10.1186/gm249
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发表时间：
2011-05-31
期刊：
影响因子：
12.3
通讯作者：
Ruiz A
中科院分区：
文献类型：
--
作者：
Antúnez C;Boada M;González-Pérez A;Gayán J;Ramírez-Lorca R;Marín J;Hernández I;Moreno-Rey C;Morón FJ;López-Arrieta J;Mauleón A;Rosende-Roca M;Noguera-Perea F;Legaz-García A;Vivancos-Moreau L;Velasco J;Carrasco JM;Alegret M;Antequera-Torres M;Manzanares S;Romo A;Blanca I;Ruiz S;Espinosa A;Castaño S;García B;Martínez-Herrada B;Vinyes G;Lafuente A;Becker JT;Galán JJ;Serrano-Ríos M;Alzheimer's Disease Neuroimaging Initiative;Vázquez E;Tárraga L;Sáez ME;López OL;Real LM;Ruiz A
为了确定与阿尔茨海默病（AD）相关的新位点，我们在西班牙人群中进行了全基因组关联研究（GWAS）。我们使用AffytoNsp I 250 K芯片对1，128名个体进行基因分型。我们的初步研究包括327例散发性AD患者和801例来自西班牙普通人群的认知状态未知的对照。为了提高研究的效力，我们通过应用相同的质量控制过滤器和相同的插补方法将我们的结果与其他四个公共GWAS数据集的结果结合起来，然后使用全局元GWAS进行分析。对2,200例散发性AD患者和2,301例对照者的重复样本进行基因分型，以证实我们的GWAS发现。对我们的数据和独立复制数据集的荟萃分析使我们能够确认AD与跨膜4域亚家族A（MS 4A）基因簇（rs 1562990，P = 4.40E-11，比值比= 0.88，95%置信区间0.85至0.91，n = 10，181例病例和14，341例对照）的新的全基因组显著关联。我们的研究结果强调了国际努力结合GWAS数据集以分离复杂疾病的遗传位点的重要性。
In order to identify novel loci associated with Alzheimer's disease (AD), we conducted a genome-wide association study (GWAS) in the Spanish population. We genotyped 1,128 individuals using the Affymetrix Nsp I 250K chip. A sample of 327 sporadic AD patients and 801 controls with unknown cognitive status from the Spanish general population were included in our initial study. To increase the power of the study, we combined our results with those of four other public GWAS datasets by applying identical quality control filters and the same imputation methods, which were then analyzed with a global meta-GWAS. A replication sample with 2,200 sporadic AD patients and 2,301 controls was genotyped to confirm our GWAS findings. Meta-analysis of our data and independent replication datasets allowed us to confirm a novel genome-wide significant association of AD with the membrane-spanning 4-domains subfamily A (MS4A) gene cluster (rs1562990, P = 4.40E-11, odds ratio = 0.88, 95% confidence interval 0.85 to 0.91, n = 10,181 cases and 14,341 controls). Our results underscore the importance of international efforts combining GWAS datasets to isolate genetic loci for complex diseases.
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影响因子：
5.8
作者：
Ramirez-Lorca, R.;Boada, M.;Ruiz, A.
通讯作者：
Ruiz, A.
影响因子：
30.8
作者：
Harold, Denise;Abraham, Richard;Hollingworth, Paul;Sims, Rebecca;Gerrish, Amy;Hamshere, Marian L.;Pahwa, Jaspreet Singh;Moskvina, Valentina;Dowzell, Kimberley;Williams, Amy;Jones, Nicola;Thomas, Charlene;Stretton, Alexandra;Morgan, Angharad R.;Lovestone, Simon;Powell, John;Proitsi, Petroula;Lupton, Michelle K.;Brayne, Carol;Rubinsztein, David C.;Gill, Michael;Lawlor, Brian;Lynch, Aoibhinn;Morgan, Kevin;Brown, Kristelle S.;Passmore, Peter A.;Craig, David;McGuinness, Bernadette;Todd, Stephen;Holmes, Clive;Mann, David;Smith, A. David;Love, Seth;Kehoe, Patrick G.;Hardy, John;Mead, Simon;Fox, Nick;Rossor, Martin;Collinge, John;Maier, Wolfgang;Jessen, Frank;Schuermann, Britta;van den Bussche, Hendrik;Heuser, Isabella;Kornhuber, Johannes;Wiltfang, Jens;Dichgans, Martin;Froelich, Lutz;Hampel, Harald;Huell, Michael;Rujescu, Dan;Goate, Alison M.;Kauwe, John S. K.;Cruchaga, Carlos;Nowotny, Petra;Morris, John C.;Mayo, Kevin;Sleegers, Kristel;Bettens, Karolien;Engelborghs, Sebastiaan;De Deyn, Peter P.;Van Broeckhoven, Christine;Livingston, Gill;Bass, Nicholas J.;Gurling, Hugh;McQuillin, Andrew;Gwilliam, Rhian;Deloukas, Panagiotis;Al-Chalabi, Ammar;Shaw, Christopher E.;Tsolaki, Magda;Singleton, Andrew B.;Guerreiro, Rita;Muehleisen, Thomas W.;Noethen, Markus M.;Moebus, Susanne;Joeckel, Karl-Heinz;Klopp, Norman;Wichmann, H-Erich;Carrasquillo, Minerva M.;Pankratz, V. Shane;Younkin, Steven G.;Holmans, Peter A.;O'Donovan, Michael;Owen, Michael J.;Williams, Julie
通讯作者：
Williams, Julie
影响因子：
56.9
作者：
LEVYLAHAD, E;WASCO, W;TANZI, RE
通讯作者：
TANZI, RE
影响因子：
--
作者：
Li, Hao;Wetten, Sally;Roses, Allen D.
通讯作者：
Roses, Allen D.
影响因子：
2.1
作者：
Li, Yun;Willer, Cristen J.;Ding, Jun;Scheet, Paul;Abecasis, Goncalo R.
通讯作者：
Abecasis, Goncalo R.