Skip to content

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

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)133-145
Number of pages13
Issue number2
Early online date14 Jan 2019
DateAccepted/In press - 18 Sep 2018
DateE-pub ahead of print - 14 Jan 2019
DatePublished (current) - 1 Feb 2019


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 using different tissues and gene expression data provided further insight into possible biological mechanisms.

    Research areas

  • ALSPAC, epigenetics, mendelian randomization, nsCL/P

Download statistics

No data available



  • Full-text PDF (final published version)

    Rights statement: This is the final published version of the article (version of record). It first appeared online via [insert publisher name] at [insert hyperlink] . Please refer to any applicable terms of use of the publisher.

    Final published version, 845 KB, PDF document

    Licence: CC BY


View research connections

Related faculties, schools or groups