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A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans
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نویسنده
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liu f. ,van der lijn f. ,schurmann c. ,zhu g. ,chakravarty m.m. ,hysi p.g. ,wollstein a. ,lao o. ,de bruijne m. ,ikram m.a. ,van der lugt a. ,rivadeneira f. ,uitterlinden a.g. ,hofman a. ,niessen w.j. ,homuth g. ,de zubicaray g. ,mcmahon k.l. ,thompson p.m. ,daboul a. ,puls r. ,hegenscheid k. ,bevan l. ,pausova z. ,medland s.e. ,montgomery g.w. ,wright m.j. ,wicking c. ,boehringer s. ,spector t.d. ,paus t. ,martin n.g. ,biffar r. ,kayser m.
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منبع
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plos genetics - 2012 - دوره : 8 - شماره : 9
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چکیده
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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. © 2012 liu et al.
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آدرس
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department of forensic molecular biology,erasmus mc university medical center rotterdam,rotterdam, Netherlands, department of forensic molecular biology,erasmus mc university medical center rotterdam,rotterdam,netherlands,department of medical informatics,erasmus mc university medical center rotterdam,rotterdam,netherlands,department of radiology,erasmus mc university medical center rotterdam,rotterdam, Netherlands, interfaculty institute for genetics and functional genomics,ernst-moritz-arndt university greifswald,greifswald, Germany, queensland institute of medical research,brisbane, Australia, rotman research institute,university of toronto,toronto,canada,centre for addiction and mental health,university of toronto,toronto, Canada, department of twin research and genetic epidemiology,king's college london,london, United Kingdom, department of forensic molecular biology,erasmus mc university medical center rotterdam,rotterdam, Netherlands, department of forensic molecular biology,erasmus mc university medical center rotterdam,rotterdam, Netherlands, department of medical informatics,erasmus mc university medical center rotterdam,rotterdam,netherlands,department of radiology,erasmus mc university medical center rotterdam,rotterdam, Netherlands, department of radiology,erasmus mc university medical center rotterdam,rotterdam,netherlands,department of epidemiology,erasmus mc university medical center rotterdam,rotterdam, Netherlands, department of radiology,erasmus mc university medical center rotterdam,rotterdam, Netherlands, department of epidemiology,erasmus mc university medical center rotterdam,rotterdam,netherlands,department of internal medicine,erasmus mc university medical center rotterdam,rotterdam, Netherlands, department of epidemiology,erasmus mc university medical center rotterdam,rotterdam,netherlands,department of internal medicine,erasmus mc university medical center rotterdam,rotterdam, Netherlands, department of epidemiology,erasmus mc university medical center rotterdam,rotterdam, Netherlands, department of medical informatics,erasmus mc university medical center rotterdam,rotterdam,netherlands,department of radiology,erasmus mc university medical center rotterdam,rotterdam,netherlands,department of imaging science and technology,faculty of applied sciences,delft university of technology,delft, Netherlands, interfaculty institute for genetics and functional genomics,ernst-moritz-arndt university greifswald,greifswald, Germany, centre for advanced imaging,university of queensland,brisbane, Australia, centre for advanced imaging,university of queensland,brisbane, Australia, laboratory of neuroimaging,school of medicine,university of california los angeles,los angeles,ca, United States, center of oral health,department of prosthodontics,gerostomatology,and dental materials,university medicine greifswald,greifswald, Germany, department of radiology and neuroradiology,university medicine greifswald,greifswald, Germany, department of radiology and neuroradiology,university medicine greifswald,greifswald, Germany, department of twin research and genetic epidemiology,king's college london,london, United Kingdom, the hospital of sick children,university of toronto,toronto, Canada, queensland institute of medical research,brisbane, Australia, queensland institute of medical research,brisbane, Australia, queensland institute of medical research,brisbane, Australia, institute for molecular bioscience,university of queensland,brisbane, Australia, department of medical statistics and bioinformatics,leiden university medical center,leiden, Netherlands, department of twin research and genetic epidemiology,king's college london,london, United Kingdom, rotman research institute,university of toronto,toronto,canada,montréal neurological institute,mcgill university,montréal, Canada, queensland institute of medical research,brisbane, Australia, center of oral health,department of prosthodontics,gerostomatology,and dental materials,university medicine greifswald,greifswald, Germany, department of forensic molecular biology,erasmus mc university medical center rotterdam,rotterdam, Netherlands
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