Genetic determination of human facial morphology: Links between cleft-lips and normal variation

European Journal of Human Genetics

Volumn 19, Issue 11, 2011, Pages 1192-1197

  Boehringer, Stefan ^a,b   Van Der Lijn, Fedde ^c   Liu, Fan ^c   Günther, Manuel ^d   Sinigerova, Stella ^b   Nowak, Stefanie ^e   Ludwig, Kerstin U ^e   Herberz, Ruth ^e   Klein, Stefan ^c   Hofman, Albert ^c   Uitterlinden, Andre G ^c   Niessen, Wiro J ^c,f   Breteler, Monique M B ^c   Van Der Lugt, Aad ^c   Würtz, Rolf P ^d   Nöthen, Markus M ^e   Horsthemke, Bernhard ^b   Wieczorek, Dagmar ^b   Mangold, Elisabeth ^e   Kayser, Manfred ^c  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d RUHR UNIVERSITY BOCHUM   (Germany)

^e UNIVERSITY OF BONN   (Germany)

^f DELFT UNIVERSITY OF TECHNOLOGY   (Netherlands)

Author keywords

cleft lip with or without cleft palate; face; facial trait; genetic association; normal trait variation; prediction

Indexed keywords

ADULT; ARTICLE; CCDC26 GENE; CLEFT LIP; COHORT ANALYSIS; CONTROLLED STUDY; DNA REPLICATION; FEMALE; GENE; GENE LOCUS; GENETIC SCREENING; GENETIC VARIABILITY; GREM1 GENE; HUMAN; MAJOR CLINICAL STUDY; MALE; MORPHOLOGY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOCIAL INTERACTION;

ADOLESCENT; ADULT; CLEFT LIP; CLEFT PALATE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; MAXILLOFACIAL DEVELOPMENT; MODELS, GENETIC; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEX FACTORS; YOUNG ADULT;

EID: 80054814425     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.110     Document Type: Article

References (26)

1. Boehringer S, Vollmar T, Tasse C et al: Syndrome identification based on 2D analysis software. Eur J Hum Genet 2006; 14: 1082-1089 (Pubitemid 44463966)
2. Kayser M, Schneider PM: DNA-based prediction of human externally visible characteristics in forensics: motivations, scientific challenges, and ethical considerations. Forensic Sci Int Genet 2009; 3: 154-161
3. Kohn LAP: The role of genetics in craniofacial morphology and growth. Ann Rev Anthropol 1991; 20: 261-278
4. Winter RM: Whats in a face? Nat Genet 1996; 12: 124-129
5. Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC: Cleft lip and palate. Lancet 2009; 374: 1773-1785
6. Mills LF, Niswander JD, Mazaheri M, Brunelle JA: Minor oral and facial defects in relatives of oral cleft patients. Angle Orthod 1968; 38: 199-204
7. Weinberg SM, Neiswanger K, Richtsmeier JT et al: Three-dimensional morphometric analysis of craniofacial shape in the unaffected relatives of individuals with nonsyndromic orofacial clefts: a possible marker for genetic susceptibility. Am J Med Genet A 2008; 146A: 409-420 (Pubitemid 351206810)
8. Weinberg SM, Maher BS, Marazita ML: Parental craniofacial morphology in cleft lip with or without cleft palate as determined by cephalometry: a meta-analysis. Orthod Craniofac Res 2006; 9: 18-30
9. HinrichsenKV: Slides On Human Embryology. Heidelberg: Springer, Heidelberg, 1986
10. Wong FK, Hagg U: An update on the aetiology of orofacial clefts. Hong Kong Med J 2004; 10: 331-336 (Pubitemid 39371347)
11. Rahimov F, Marazita ML, Visel A et al: Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet 2008; 40: 1341-1347
12. Birnbaum S, Ludwig KU, Reutter H et al: Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet 2009; 41: 473-477
13. Mangold E, Ludwig KU, Birnbaum S et al: Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet 2010; 42: 24-26
14. Beaty TH, Murray JC, Marazita ML et al: A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet 2010; 42: 525-529
15. Vollmar T, Maus B, Wurtz RP et al: Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces. Eur J Med Genet 2008; 51: 44-53 (Pubitemid 351163184)
16. Hofman A, Breteler MMB, van Duijn CM et al: The Rotterdam Study: 2010 objectives and design update. Eur J Epidemiol 2009; 24: 553-572
17. Vernooij MW, de Groot M, van der Lugt A et al: White matter atrophy and lesion formation explain the loss of structural integrity of white matter in aging. Neuroimage 2008; 43: 470-477
18. Hill DL, Batchelor PG, Holden M, Hawkes DJ: Medical image registration. Phys Med Biol 2001; 46: R1-R45 (Pubitemid 32218849)
19. Klein S, Staring M, Murphy K, Viergever MA, Pluim JPW: elastix: a toolbox for intensitybased medical image registration. IEEE Trans Med Imaging 2010; 29: 196-205
20. Liu F, van Duijn K, Vingerling JR et al: Eye color and the prediction of complex phenotypes from genotypes. Curr. Biol 2009; 19: R192-R193
21. Levy D, Ehret GB, Rice K et al: Genome-wide association study of blood pressure and hypertension. Nat Genet 2009; 41: 677-687
22. Weinberg SM, Naidoo SD, Bardi KM et al: Face shape of unaffected parents with cleft affected offspring: combining three-dimensional surface imaging and geometric morphometrics. Orthod Craniofac Res 2009; 12: 271-281
23. Shrestha I, Ohtsuki T, Takahashi T, Nomura E, Kohriyama T, Matsumoto M: Diagonal ear-lobe crease is correlated with atherosclerotic changes in carotid arteries. Circ J 2009; 73: 1945-1949
24. Wyszynski DF: Cleft lip and palate: from origin to treatment. Oxford: Oxford University Press, Oxford, 2002
25. Weedon MN, Lango H, Lindgren CM et al: Genome-wide association analysis identifies loci that influence adult height. Nat Genet 2008; 40: 575-583 (Pubitemid 351601210)
26. Branicki W, Liu F, van Duijn K et al: Model-based prediction of human hair color using DNA variants. Hum Genet 2011; 129: 443-454