德国波昂大学人类遗传学研究院，生命与脑科学研究中心基因组研究系，生物信息统计学系等处的研究者在Nature Genetics在线版上发表新文章，解析唇裂遗传性的新进展。
据文章介绍，以Elisabeth Mangold为首的研究小组对224名患有唇裂的孩子以及383名健康的孩子进行全基因组关联分析。研究小组对50万个遗传信息项目进行扫描筛选，结果发8号染色体的长臂上的一个基因座引起了研究者的关注。
大量的数据分析发现，患有唇裂的孩子大部分8号染色体上8q24基因座发生突变，相对而言，正常的对照组的孩子8q24没有发生突变。
当然，唇裂的发生不仅仅是遗传因素所引起的，研究者经过对照发现，没有变异的孩子患唇裂的几率在1/700以下。
Elisabeth称，下一步研究小组将找出变异的基因，并研究相关基因的调控模式和功能，希望能为唇裂的检测甚至是治疗找出一些蛛丝马迹。（生物谷Bioon.com）
生物谷推荐原始出处：
Nature Genetics 8 March 2009 | doi:10.1038/ng.333
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
Stefanie Birnbaum1,2,19, Kerstin U Ludwig3,19, Heiko Reutter1, Stefan Herms3, Michael Steffens4, Michele Rubini5, Carlotta Baluardo5, Melissa Ferrian5, Nilma Almeida de Assis1, Margrieta A Alblas3, Sandra Barth3, Jan Freudenberg6, Carola Lauster7, Gül Schmidt7, Martin Scheer8, Bert Braumann9, Stefaan J Bergé10, Rudolf H Reich11, Franziska Schiefke12, Alexander Hemprich12, Simone P?tzsch13, Regine P Steegers-Theunissen14, Bernd P?tzsch15, Susanne Moebus16, Bernhard Horsthemke17, Franz-Josef Kramer2, Thomas F Wienker4, Peter A Mossey18, Peter Propping1, Sven Cichon1,3, Per Hoffmann1,3, Michael Knapp4, Markus M N?then1,3,19 & Elisabeth Mangold1,19
We conducted a genome-wide association study involving 224 cases and 383 controls of Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the cleft phenotype, including three markers that reached genome-wide significance. The 640-kb cleft-associated region was saturated with 146 SNP markers and then analyzed in our entire NSCL/P sample of 462 unrelated cases and 954 controls. In the entire sample, the most significant SNP (rs987525) had a P value of 3.34 10-24. The odds ratio was 2.57 (95% CI = 2.02–3.26) for the heterozygous genotype and 6.05 (95% CI = 3.88–9.43) for the homozygous genotype. The calculated population attributable risk for this marker is 0.41, suggesting that this study has identified a major susceptibility locus for NSCL/P.
1 Institute of Human Genetics, University of Bonn, Bonn, Germany.
2 Department of Oral and Maxillofacial Surgery, University of G?ttingen, G?ttingen, Germany.
3 Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany.
4 Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany.
5 Department of Experimental and Diagnostic Medicine, Medical Genetics Unit, University of Ferrara, Ferrara, Italy.
6 Center for Genomics & Human Genetics, Feinstein Institute for Medical Research, Northshore-LIJ University Hospital, New York, USA.
7 Department of Cleft Lip and Cleft Palate Surgery, Humboldt University of Berlin, Berlin, Germany.
8 Department of Oral and Maxillo-Facial Surgery, University of Cologne, Cologne, Germany.
9 Department of Orthodontics, University of Cologne, Cologne, Germany.
10 Department of Oral and Maxillo-Facial Surgery, Radboud University Nijmegen, Nijmegen, The Netherlands.
11 Department of Oral and Maxillo-Facial-Plastic Surgery, University of Bonn, Bonn, Germany.
12 Department of Oral and Maxillo-Facial Surgery, University of Leipzig, Leipzig, Germany.
13 Monitoring of Congenital Malformations Saxony Anhalt, University of Magdeburg, Magdeburg, Germany.
14 University Medical Center, Rotterdam, The Netherlands.
15 Institute of Experimental Hematology and Transfusion Medicine, University of Bonn, Bonn, Germany.
16 Institute for Medical Informatics, Biometry and Epidemiology, University Hospital of Essen, University Duisburg-Essen, Germany.
17 Institute of Human Genetics, University Hospital of Essen, University Duisburg-Essen, Germany.
18 Orthodontic Unit, Dental Hospital & School, University of Dundee, Dundee, UK.
19 These authors contributed equally to this work.
