一项关于全基因组关联研究(genome-wide association study,GWAS)的研究报告发表在10月11日Nature Genetics杂志上。
一组国际研究小组对英国和德国超过14,000人进行了8项血液测试——其中包括血红蛋白浓度，红细胞，白细胞以及血小板的数量和体积检测，揭开了人类基因组中影响血细胞发育相关的22个相关基因区域，且其中有15个基因区域是新发现的。一些常见的人类疾病就与这些区域出现的遗传突变体有关。这是GWAS首次在大量样本的血液检测上的应用。
课题组对比了人类基因组中与血细胞发育相关的基因区域和引发心脏疾病基因区域。通过1万名患病人群和1万名健康人的基因数据比较。他们发现了一个与血小板计数相关的基因突变体同时还能引起心脏疾病。这个基因组中新发现的突变体目前已知还能影响高血压，腹腔病以及1-型糖尿病的发病率。
进一步研究表明，这些遗传风险因素仅在欧洲血统的人群中发现。该课题组比较了人类和黑猩猩的基因数据，他们得出这样的结论，即自然选择中这种有利的变异体保存下来同时也增加了患心脏疾病，腹腔病以及1-型糖尿病的风险。
据研究人员Dr Christian Gieger介绍，目前GWAS相关方面的研究很少超出对单一性状研究之外。但是，通过对相关性状系统的分析，可以发现相同的基因突变体可能引发各种不同的人类疾病。（生物谷Bioon.com）
生物谷推荐原始出处：
Nature Genetics 11 October 2009 | doi:10.1038/ng.467
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
Nicole Soranzo1,2,45, Tim D Spector2,45, Massimo Mangino2,45, Brigitte Kühnel3, Augusto Rendon4, Alexander Teumer5, Christina Willenborg6,7, Benjamin Wright8, Li Chen9, Mingyao Li10, Perttu Salo11,12, Benjamin F Voight13,14, Philippa Burns4, Roman A Laskowski15, Yali Xue1, Stephan Menzel16, David Altshuler13,14,17,18,19, John R Bradley20, Suzannah Bumpstead1, Mary-Susan Burnett21, Joseph Devaney21, Angela D?ring3, Roberto Elosua22, Stephen E Epstein21, Wendy Erber23, Mario Falchi2,24, Stephen F Garner4, Mohammed J R Ghori1, Alison H Goodall25, Rhian Gwilliam1, Hakon H Hakonarson26, Alistair S Hall27, Naomi Hammond1, Christian Hengstenberg28, Thomas Illig3, Inke R K?nig6, Christopher W Knouff29, Ruth McPherson9, Olle Melander30, Vincent Mooser29, Matthias Nauck31, Markku S Nieminen32, Christopher J O'Donnell18,33, Leena Peltonen11,12, Simon C Potter1, Holger Prokisch34,35, Daniel J Rader36,37, Catherine M Rice1, Robert Roberts9, Veikko Salomaa11,12, Jennifer Sambrook4, Stefan Schreiber38, Heribert Schunkert7, Stephen M Schwartz39,40, Jovana Serbanovic-Canic4, Juha Sinisalo32, David S Siscovick39,40, Klaus Stark28, Ida Surakka12, Jonathan Stephens4, John R Thompson8, Uwe V?lker5, Henry V?lzke41, Nicholas A Watkins4, George A Wells9, H-Erich Wichmann3,42, David A Van Heel43, Chris Tyler-Smith1, Swee Lay Thein16, Sekar Kathiresan18,33, Markus Perola11,12, Muredach P Reilly36,37, Alexandre F R Stewart9, Jeanette Erdmann7, Nilesh J Samani25, Christa Meisinger3, Andreas Greinacher44, Panos Deloukas1,45, Willem H Ouwehand1,4,45 & Christian Gieger3,45
Abstract
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 and myocardial infarction 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.
