生物谷報道:美,、英、法,、加,、比利時5國科學(xué)家近日綜合3個獨立研究小組的數(shù)據(jù),確定出21種新的與克羅恩氏?。–rohn's disease,,一種胃腸道的慢性非特異性炎癥性疾病)有關(guān)的遺傳變異,,從而將與該病有關(guān)的風(fēng)險因子數(shù)增加到32個,。這一發(fā)現(xiàn)有望將來為找到該病的治療方法和預(yù)防措施提供幫助,。相關(guān)論文6月29日在線發(fā)表于《自然—遺傳學(xué)》(Nature Genetics)上,。
2007年,位于北美,、英國和法國及比利時的3個獨立研究小組各自發(fā)表了對克羅恩氏病的基因組研究成果,,將與克羅恩氏病有關(guān)的基因位點增加到11個。為了打破單個小組研究樣本量不足的限制,,這3個小組通過元分析(meta-analysis)的方法將各自數(shù)據(jù)進行了綜合,,比較了3200多個克羅恩氏病病人和4800多個對照病人的數(shù)據(jù)。結(jié)果證實了先前發(fā)現(xiàn)的11個位點,,并且還發(fā)現(xiàn)了21個新的易感性位點,。
論文高級作者、美國麻省綜合醫(yī)院的Mark Daly說:“這一研究大大提升了我們對克羅恩氏病遺傳結(jié)構(gòu)的認識,,并使我們對該病的生物學(xué)基礎(chǔ)有了更詳細的了解,。更好地理解這些基因的準(zhǔn)確功能以及相關(guān)變異的分子效應(yīng),我們將可能開發(fā)出新的治療策略和預(yù)防方法,。”(生物谷bioon.com)
生物谷推薦原始出處:
Nature Genetics,,doi:10.1038/ng.175,Jeffrey C Barrett,,Mark J Daly
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
Jeffrey C Barrett1, Sarah Hansoul2, Dan L Nicolae3, Judy H Cho4, Richard H Duerr5,6, John D Rioux7,8, Steven R Brant9,10, Mark S Silverberg11, Kent D Taylor12, M Michael Barmada6, Alain Bitton13, Themistocles Dassopoulos9, Lisa Wu Datta9, Todd Green8, Anne M Griffiths14, Emily O Kistner15, Michael T Murtha4, Miguel D Regueiro5, Jerome I Rotter12, L Philip Schumm15, A Hillary Steinhart11, Stephan R Targan12, Ramnik J Xavier16, the NIDDK IBD Genetics Consortium33, Cécile Libioulle2, Cynthia Sandor2, Mark Lathrop17, Jacques Belaiche18, Olivier Dewit19, Ivo Gut17, Simon Heath17, Debby Laukens20, Myriam Mni2, Paul Rutgeerts21, André Van Gossum22, Diana Zelenika17, Denis Franchimont22, Jean-Pierre Hugot23, Martine de Vos20, Severine Vermeire21, Edouard Louis18, the Belgian-French IBD Consortium33,the Wellcome Trust Case Control Consortium33,34, Lon R Cardon1, Carl A Anderson1, Hazel Drummond24, Elaine Nimmo24, Tariq Ahmad25, Natalie J Prescott26, Clive M Onnie26, Sheila A Fisher26, Jonathan Marchini27, Jilur Ghori28, Suzannah Bumpstead28, Rhian Gwilliam28, Mark Tremelling29, Panos Deloukas28, John Mansfield30, Derek Jewell31, Jack Satsangi24, Christopher G Mathew26, Miles Parkes29, Michel Georges2 & Mark J Daly8,32
Abstract
Several risk factors for Crohn's disease have been identified in recent genome-wide association studies. To advance gene discovery further, we combined data from three studies on Crohn's disease (a total of 3,230 cases and 4,829 controls) and carried out replication in 3,664 independent cases with a mixture of population-based and family-based controls. The results strongly confirm 11 previously reported loci and provide genome-wide significant evidence for 21 additional loci, including the regions containing STAT3, JAK2, ICOSLG, CDKAL1 and ITLN1. The expanded molecular understanding of the basis of this disease offers promise for informed therapeutic development.