德國波昂大學人類遺傳學研究院，生命與腦科學研究中心基因組研究系,，生物信息統(tǒng)計學系等處的研究者在Nature Genetics在線版上發(fā)表新文章,，解析唇裂遺傳性的新進展,。

據(jù)文章介紹，以Elisabeth  Mangold為首的研究小組對224名患有唇裂的孩子以及383名健康的孩子進行全基因組關聯(lián)分析,。研究小組對50萬個遺傳信息項目進行掃描篩選，結(jié)果發(fā)8號染色體的長臂上的一個基因座引起了研究者的關注,。

大量的數(shù)據(jù)分析發(fā)現(xiàn)，患有唇裂的孩子大部分8號染色體上8q24基因座發(fā)生突變,，相對而言,，正常的對照組的孩子8q24沒有發(fā)生突變。

當然,，唇裂的發(fā)生不僅僅是遺傳因素所引起的,，研究者經(jīng)過對照發(fā)現(xiàn)，沒有變異的孩子患唇裂的幾率在1/700以下,。

Elisabeth稱，下一步研究小組將找出變異的基因,，并研究相關基因的調(diào)控模式和功能,，希望能為唇裂的檢測甚至是治療找出一些蛛絲馬跡,。（生物谷Bioon.com）

生物谷推薦原始出處：

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.