生物谷报道：美、英、法、加、比利时5国科学家近日综合3个独立研究小组的数据，确定出21种新的与克罗恩氏病（Crohn's disease，一种胃肠道的慢性非特异性炎症性疾病）有关的遗传变异，从而将与该病有关的风险因子数增加到32个。这一发现有望将来为找到该病的治疗方法和预防措施提供帮助。相关论文6月29日在线发表于《自然—遗传学》（Nature Genetics）上。
2007年，位于北美、英国和法国及比利时的3个独立研究小组各自发表了对克罗恩氏病的基因组研究成果，将与克罗恩氏病有关的基因位点增加到11个。为了打破单个小组研究样本量不足的限制，这3个小组通过元分析（meta-analysis）的方法将各自数据进行了综合，比较了3200多个克罗恩氏病病人和4800多个对照病人的数据。结果证实了先前发现的11个位点，并且还发现了21个新的易感性位点。
论文高级作者、美国麻省综合医院的Mark Daly说：“这一研究大大提升了我们对克罗恩氏病遗传结构的认识，并使我们对该病的生物学基础有了更详细的了解。更好地理解这些基因的准确功能以及相关变异的分子效应，我们将可能开发出新的治疗策略和预防方法。”（生物谷bioon.com）
生物谷推荐原始出处：
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.
