B1271 - Establish overlap between cleft lip/palate genetic associations and normal facial variation genetic associations - 24/11/2011

B number: 
B1271
Principal applicant name: 
Dr Lavinia Paternoster (University of Bristol, UK)
Co-applicants: 
Prof Stephen Richmond (University of Cardiff, UK), Dr Dave Evans (University of Bristol, UK), Dr Kerstin Ludwig (University of Bonn, Europe), Prof Markus N?then (University of Bonn, Europe), Dr Elisabeth Mangold (University of Bonn, Europe)
Title of project: 
Establish overlap between cleft lip/palate genetic associations and normal facial variation genetic associations.
Proposal summary: 

AIMS: To establish the overlap in genetic associations for cleft lip/palate and for normal facial variation.

HYPOTHESES: (1) SNPs associated with cleft lip/palate will also be associated with normal facial variation. (2) SNPs associated with normal facial variation will also be associated with cleft lip/palate

EXPOSURE VARIABLES: Genome-wide SNP variables.

OUTCOME VARIABLES: face shape variables.

CONFOUNDING VARIABLES: Age, sex

OUTLINE: Prof Nothen/Dr Ludwig (University of Bonn) will provide us with a list of SNPs that they have found to be associated with cleft lip/palate. We will test these SNPs for association with normal facial variation in ALSPAC. Reciprocally, we will identify a list of SNPs that are associated with normal facial variation in ALSPAC and Prof Nothen/Dr Ludwig will test these SNPs for association with cleft lip/palate in their data. Both studies will also generate polygenic scores for their respective traits (incorporating thousands of SNPs from across the genome). The SNP lists (and results) used to construct these polygenic scores will be exchanged to allow these scores to be tested in the reciprocal group (and for the reciprocal phenotypes).

Date proposal received: 
Thursday, 24 November, 2011
Date proposal approved: 
Thursday, 24 November, 2011
Keywords: 
Face Shape , Genetics
Primary keyword: