B2472 - Uncommon and rare genetic variants associated with vitamin D levels - 25/06/2015

B number: 
B2472
Principal applicant name: 
Nick Timpson (University of Bristol, UK)
Co-applicants: 
Tom Dudding (University of Bristol, UK), Mr Simon Haworth (University of Bristol, UK)
Title of project: 
Uncommon and rare genetic variants associated with vitamin D levels
Proposal summary: 

GWAS has sucsessfuly identified common candidate loci associated with vitamin D levels. However, these loci account for only a small proportion of heritability in vitamin D levels. These studies did not assess for uncommon or rare variants. Access to whole genome sequencing data and deeper imputation based on the UK10K/1000G panel means that it is now possible to test a greater range of uncommon and rare variants. This approach has been previously used to re-evaluate existing phenotypes and has lead to new variants being discovered, e.g. for triglyceride and thyroid hormone levels. The consortium consists of the following European ancestry cohorts:

1. Twins UK

2. ALSPAC

3. Framingham Heart Study

4. Rotterdam Study

5. SOF

The analysis for the ALSPAC cohort will be conducted by Tom Dudding and Simon Haworth both IEU members, under Nic Timpson's supervision.

Aims. The IEU has been approached by an international consortium to participate in analysis. The overall consortium aims are to identify uncommon and rare genetic variants associated with vitamin D levels.

Date proposal received: 
Wednesday, 24 June, 2015
Date proposal approved: 
Thursday, 25 June, 2015
Keywords: 
Social Position
Primary keyword: 
Vitamin D