Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.

ABSTRACT:

Aim

To determine if nonsyndromic cleft lip with or without cleft palate (nsCL/P) genetic risk variants influence liability to nsCL/P through gene regulation pathways, such as those involving DNA methylation.

Materials & 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 & 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 usi

SUBMITTER: Howe LJ 

PROVIDER: S-EPMC6462847 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature