Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate
2019
Aim: To determine if nsCL/P genetic risk variants influence liability to nsCL/P
through gene regulation pathways, such as those involving DNA methylation.
Materials and Methods: nsCL/P genetic summary data and methylation data from
four studies were used in conjunction with Mendelian randomization and joint
likelihood mapping to investigate potential mediation of nsCL/P genetic variants.
Results and conclusion: Evidence was found at VAX1 (10q25.3), LOC146880
(17q23.3) and NTN1 (17p13.1), that liability to nsCL/P and variation in DNA
methylation might be driven by the same genetic variant, suggesting that genetic
variation at these loci may increase liability to nsCL/P by influencing DNA
methylation. Follow up analyses using different tissues and gene expression data
provided further insight into possible biological mechanisms.
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