一項關(guān)于全基因組關(guān)聯(lián)研究(genome-wide association study,GWAS)的研究報告發(fā)表在10月11日Nature Genetics雜志上。
一組國際研究小組對英國和德國超過14,000人進行了8項血液測試——其中包括血紅蛋白濃度,，紅細胞,，白細胞以及血小板的數(shù)量和體積檢測，揭開了人類基因組中影響血細胞發(fā)育相關(guān)的22個相關(guān)基因區(qū)域,，且其中有15個基因區(qū)域是新發(fā)現(xiàn)的,。一些常見的人類疾病就與這些區(qū)域出現(xiàn)的遺傳突變體有關(guān)。這是GWAS首次在大量樣本的血液檢測上的應(yīng)用,。
課題組對比了人類基因組中與血細胞發(fā)育相關(guān)的基因區(qū)域和引發(fā)心臟疾病基因區(qū)域。通過1萬名患病人群和1萬名健康人的基因數(shù)據(jù)比較,。他們發(fā)現(xiàn)了一個與血小板計數(shù)相關(guān)的基因突變體同時還能引起心臟疾病,。這個基因組中新發(fā)現(xiàn)的突變體目前已知還能影響高血壓，腹腔病以及1-型糖尿病的發(fā)病率,。
進一步研究表明,，這些遺傳風險因素僅在歐洲血統(tǒng)的人群中發(fā)現(xiàn)。該課題組比較了人類和黑猩猩的基因數(shù)據(jù),，他們得出這樣的結(jié)論,，即自然選擇中這種有利的變異體保存下來同時也增加了患心臟疾病，腹腔病以及1-型糖尿病的風險,。
據(jù)研究人員Dr Christian Gieger介紹,，目前GWAS相關(guān)方面的研究很少超出對單一性狀研究之外。但是,，通過對相關(guān)性狀系統(tǒng)的分析,，可以發(fā)現(xiàn)相同的基因突變體可能引發(fā)各種不同的人類疾病。（生物谷Bioon.com）
生物谷推薦原始出處：
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.
