Cleft lip and/or palate (CL/P) is one of the most common birth defects, affecting around 1 in every 700 births.
DNA methylation appears to be associated with non-syndromic cleft lip and/or palate (CL/P), with three possible explanations: 1) DNA methylation causally affects CL/P, 2) CL/P causally affects DNA methylation, or 3) the association is confounded by genetic or environmental factors.
If DNA methylation is associated with genetic risk for CL/P in the general population, this would further suggest there is an association between CL/P and DNA methylation. This finding would have important implications for our understanding of the aetiology of CL/P.
We will assess whether genetic variants associated with CL/P are associated with variation in DNA methylation in the general population using ALSPAC.