2012年9月17日 訊 /生物谷BIOON/ --同卵雙胞胎的臉近乎相同,，與毫不相干的人相比,，兄弟姐妹的臉非常相似。顯然,，臉部形態(tài)是由基因調控的,。近日，一個國際研究團隊鑒別出了決定面部形態(tài)的五個基因,，相關論文發(fā)表在9月13日的PLoS Genetics雜志上,。
為鑒別決定臉部形態(tài)的基因，大約一萬個來自不同國家有歐洲血統(tǒng)的人參與了此項研究,。研究者采用三維頭部核磁共振成像和二維肖像來描繪面部特征,，而后通過GWA（genome- wide association）尋找這一萬個人與面部形態(tài)有關的DNA。
最終,，研究者鑒別出PRDM16, PAX3, TP63, C5orf50, COL17A1五個基因,，其中三個基因與顱面部的發(fā)育和疾病有關。
此項研究的領導者Manfred Kayser教授說,，未來我們或許根據(jù)某人留下的DNA畫出他的肖像,，這對刑事偵查取證方面將很有幫助，并且現(xiàn)在已經可以根據(jù)DNA高度準確對眼睛和頭發(fā)的顏色進行預測,。（生物谷Bioon.com）
編譯自Facial Morphology: Face Genes Identified
doi:10.1371/journal.pgen.1002932
PMC:
PMID:
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.
