2012年9月17日 讯 /生物谷BIOON/ --同卵双胞胎的脸近乎相同，与毫不相干的人相比，兄弟姐妹的脸非常相似。显然，脸部形态是由基因调控的。近日，一个国际研究团队鉴别出了决定面部形态的五个基因，相关论文发表在9月13日的PLoS Genetics杂志上。
为鉴别决定脸部形态的基因，大约一万个来自不同国家有欧洲血统的人参与了此项研究。研究者采用三维头部核磁共振成像和二维肖像来描绘面部特征，而后通过GWA（genome- wide association）寻找这一万个人与面部形态有关的DNA。
最终，研究者鉴别出PRDM16, PAX3, TP63, C5orf50, COL17A1五个基因，其中三个基因与颅面部的发育和疾病有关。
此项研究的领导者Manfred Kayser教授说，未来我们或许根据某人留下的DNA画出他的肖像，这对刑事侦查取证方面将很有帮助，并且现在已经可以根据DNA高度准确对眼睛和头发的颜色进行预测。（生物谷Bioon.com）
编译自Facial Morphology: Face Genes Identified
doi:10.1371/journal.pgen.1002932
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A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans
Fan Liu1, Fedde van der Lijn1,2,3, Claudia Schurmann4, Gu Zhu5, M. Mallar Chakravarty6,7, Pirro G. Hysi8, Andreas Wollstein1, Oscar Lao1, Marleen de Bruijne2,3, M. Arfan Ikram3,9, Aad van der Lugt3, Fernando Rivadeneira9,10, André G. Uitterlinden9,10, Albert Hofman9, Wiro J. Niessen2,3,11, Georg Homuth4, Greig de Zubicaray12, Katie L. McMahon12, Paul M. Thompson13, Amro Daboul14, Ralf Puls15, Katrin Hegenscheid15, Liisa Bevan8, Zdenka Pausova16, Sarah E. Medland5, Grant W. Montgomery5, Margaret J. Wright5, Carol Wicking17, Stefan Boehringer18, Timothy D. Spector8, Tomá? Paus6,19, Nicholas G. Martin5, Reiner Biffar14, Manfred Kayser1*, for the International Visible Trait Genetics (VisiGen) Consortium
Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and it is clearly under genetic regulation; however, almost nothing is known about the genetic basis of normal human facial morphology. We therefore conducted a genome-wide association study for facial shape phenotypes in multiple discovery and replication cohorts, considering almost ten thousand individuals of European descent from several countries. Phenotyping of facial shape features was based on landmark data obtained from three-dimensional head magnetic resonance images (MRIs) and two-dimensional portrait images. We identified five independent genetic loci associated with different facial phenotypes, suggesting the involvement of five candidate genes—PRDM16, PAX3, TP63, C5orf50, and COL17A1—in the determination of the human face. Three of them have been implicated previously in vertebrate craniofacial development and disease, and the remaining two genes potentially represent novel players in the molecular networks governing facial development. Our finding at PAX3 influencing the position of the nasion replicates a recent GWAS of facial features. In addition to the reported GWA findings, we established links between common DNA variants previously associated with NSCL/P at 2p21, 8q24, 13q31, and 17q22 and normal facial-shape variations based on a candidate gene approach. Overall our study implies that DNA variants in genes essential for craniofacial development contribute with relatively small effect size to the spectrum of normal variation in human facial morphology. This observation has important consequences for future studies aiming to identify more genes involved in the human facial morphology, as well as for potential applications of DNA prediction of facial shape such as in future forensic applications.
