A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
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DOI：
10.1038/ng.467
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发表时间：
2009-11
期刊：
影响因子：
30.8
通讯作者：
Gieger, Christian
中科院分区：
文献类型：
--
作者：
Soranzo, Nicole;Spector, Tim D.;Mangino, Massimo;Kuehnel, Brigitte;Rendon, Augusto;Teumer, Alexander;Willenborg, Christina;Wright, Benjamin;Chen, Li;Li, Mingyao;Salo, Perttu;Voight, Benjamin F.;Burns, Philippa;Laskowski, Roman A.;Xue, Yali;Menzel, Stephan;Altshuler, David;Bradley, John R.;Bumpstead, Suzannah;Burnett, Mary-Susan;Devaney, Joseph;Doering, Angela;Elosua, Roberto;Epstein, Stephen E.;Erber, Wendy;Falchi, Mario;Garner, Stephen F.;Ghori, Mohammed J. R.;Goodall, Alison H.;Gwilliam, Rhian;Hakonarson, Hakon H.;Hall, Alistair S.;Hammond, Naomi;Hengstenberg, Christian;Illig, Thomas;Koenig, Inke R.;Knouff, Christopher W.;McPherson, Ruth;Melander, Olle;Mooser, Vincent;Nauck, Matthias;Nieminen, Markku S.;O'Donnell, Christopher J.;Peltonen, Leena;Potter, Simon C.;Prokisch, Holger;Rader, Daniel J.;Rice, Catherine M.;Roberts, Robert;Salomaa, Veikko;Sambrook, Jennifer;Schreiber, Stefan;Schunkert, Heribert;Schwartz, Stephen M.;Serbanovic-Canic, Jovana;Sinisalo, Juha;Siscovick, David S.;Stark, Klaus;Surakka, Ida;Stephens, Jonathan;Thompson, John R.;Voelker, Uwe;Voelzke, Henry;Watkins, Nicholas A.;Wells, George A.;Wichmann, H-Erich;Van Heel, David A.;Tyler-Smith, Chris;Thein, Swee Lay;Kathiresan, Sekar;Perola, Markus;Reilly, Muredach P.;Stewart, Alexandre F. R.;Erdmann, Jeanette;Samani, Nilesh J.;Meisinger, Christa;Greinacher, Andreas;Deloukas, Panos;Ouwehand, Willem H.;Gieger, Christian
血液中细胞的数量和体积会影响一系列疾病，包括癌症、心血管疾病、代谢疾病、传染病和免疫疾病。我们在这里考虑了8个临床相关血液学参数的遗传变异，包括血红蛋白水平、红细胞和白细胞计数以及血小板计数和体积。我们描述了来自6个欧洲人群研究的13,943个样本中与这些血液学参数重复相关的22个遗传位点中的常见变异，其中6个与红细胞参数有关，15个与血小板参数有关，1个与白细胞总数有关。我们进一步在9,479名患者和10,527名对照中发现了与冠状动脉疾病相关的位于12q24的长程单倍型。我们表明，这种单倍型表现出广泛的疾病多效性，因为它包含已知的1型糖尿病、高血压和乳糜泻的风险基因，并通过特定于欧洲和地理附近人群的选择性扫描传播。
The number and volume of cells in the blood affect a wide range of disorders including cancer and cardiovascular, metabolic, infectious and immune conditions. We consider here the genetic variation in eight clinically relevant hematological parameters, including hemoglobin levels, red and white blood cell counts and platelet counts and volume. We describe common variants within 22 genetic loci reproducibly associated with these hematological parameters in 13,943 samples from six European population-based studies, including 6 associated with red blood cell parameters, 15 associated with platelet parameters and 1 associated with total white blood cell count. We further identified a long-range haplotype at 12q24 associated with coronary artery disease in 9,479 cases and 10,527 controls. We show that this haplotype demonstrates extensive disease pleiotropy, as it contains known risk loci for type 1 diabetes, hypertension and celiac disease and has been spread by a selective sweep specific to European and geographically nearby populations.
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影响因子：
30.8
作者：
Marchini, Jonathan;Howie, Bryan;Donnelly, Peter
通讯作者：
Donnelly, Peter
影响因子：
64.5
作者：
Mason, Kylie D.;Carpinelli, Marina R.;Kile, Benjamin T.
通讯作者：
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影响因子：
30.8
作者：
Gudbjartsson, Daniel F.;Bjornsdottir, Unnur S.;Stefansson, Kari
通讯作者：
Stefansson, Kari
影响因子：
2.6
作者：
Kitajima, K;Kojima, M;Takeuchi, T
通讯作者：
Takeuchi, T
影响因子：
9.8
作者：
Meisinger, Christa;Prokisch, Holger;Doering, Angela
通讯作者：
Doering, Angela