B2809 - Investigating genetic influences of facial morphology - 03/05/2017

B number: 
B2809
Principal applicant name: 
Evie Stergiakouli | MRC IEU
Co-applicants: 
Holly Thompson, Laurence Howe, Dr Gemma Sharp, Dr Sarah Lewis, Dr Lavinia Paternoster , Prof Stephen Richmond, Caryl Wilson-Nagrani, Hawraa Abbas
Title of project: 
Investigating genetic influences of facial morphology
Proposal summary: 

Craniofacial morphology has been classified in a 15-year-old population (Toma et al, 2012) and similar facial phenotypes in Twins UK were also found to be highly heritable (Djordjevic et al, 2016). The findings of these studies will inform further research to derive additional genetic variants that influence normal facial variation in the general population. The Bristol and Cardiff collaboration were the first to report the PAX3 gene in a normal population. This gene influences the prominence of the nasion (bridge of the nose) (Paternoster et al., 2012). Since this paper was published, there have been significant advances in using dense surface facial meshes rather than landmarks to derive facial phenotypes creating robust analyses that will identify genetic variants for facial morphology which can shed light on the risk factors for facial dysmorphologies and abnormalities, such as cleft lip. The student will have the opportunity to collaborate with Visigen, an international consortium of experts on visible trait genetics, to take part in large scale genomic analysis of facial morphology.

Date proposal received: 
Monday, 19 December, 2016
Date proposal approved: 
Monday, 9 January, 2017
Keywords: 
Genetics, Face development, GWAS, Dental, Genetics - e.g. epigenetics, mendelian randomisation, UK10K, sequencing, etc., Face - face shape