B2343 - The exploration of an association between previously reported orofacial cleft genes and lip trait phenotypes - 27/11/2014

B number: 
B2343
Principal applicant name: 
Caryl Wilson-Nagrani (University of Cardiff, UK)
Co-applicants: 
Prof Stephen Richmond (University of Cardiff, UK), Dr Lavinia Paternoster (Univeristy of Bristol, UK)
Title of project: 
The exploration of an association between previously reported orofacial cleft genes and lip trait phenotypes.
Proposal summary: 

The aim of this study it to explore a link between specific genes that have been reported to be associated with orofacial clefting and identified lip traits from 3D facial scans.

We hypothesise that SNP's associated with clefting, should have an effect on lip morphology. The exposure variable is the orofacial cleft gene carrier (see appendix for list of candidate genes) and the outcome variable is the characteristic lip trait (see categorisation table) - that may have increased/decreased occurrence of certain features. These features may in turn be considered risk factors in determining risk of orofacial clefting.

The GWAS for these lip traits has already been conducted (under B568) and so this proposal should just involve the look-up of the relevant variants in those results. Lavinia Paternoster (IEU) has access to these results. These look-ups and any subsequent analysis required will be carried out by Caryl Wilson-Nagrani as an IEU temporary visitor under the supervision of Lavinia Paternoster.

Date proposal received: 
Tuesday, 25 November, 2014
Date proposal approved: 
Thursday, 27 November, 2014
Keywords: 
Primary keyword: 
Face Shape