We have previously identified two CNVs that are highly differentiated in allele frequency between European and West African populations (Conrad et al 2010). These two CNVs are an intronic deletion in the PDLIM3 gene and an intronic VNTR in the ACTN2 gene. These two genes physically interact in the sarcomere. Consequently we hypothesised that these two CNVs might influence muscle phenotypes and thus underpin part of the known differentiation in muscle phenotype between European and West African populations.

In this project we propose to test for association between these two CNVs and grip strength. We propose to extract the CNV data on these two loci from the CNV data previously generated on a CNV genotyping chip designed at Sanger and run at Oxford Gene Technology, funded by Sanger in collaboration with ALSPAC. These data were subsequently normalised and genotypes called, where possible, at Sanger. These CNV data were generated on a selected set of ~1,000 densely phenotyped child samples from within the ALSPAC collection.

Association of the same phenotype against other CNVs typed on the same chip will be performed to test for any inflation of test statistics.