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

Howe, LJ; Richardson, TG; Arathimos, R; Alvizi, L; Passos-Bueno, M-R; Stanier, PM; Nohr, E; ... Sharp, GC; + view all (2019) Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate. Epigenomics 10.2217/epi-2018-0091. (In press). Green open access

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Abstract

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.

Type: Article
Title: Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate
Open access status: An open access version is available from UCL Discovery
DOI: 10.2217/epi-2018-0091
Publisher version: https://doi.org/10.2217/epi-2018-0091
Language: English
Additional information: This work is licensed under the Creative Commons Attribution 4.0 License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Keywords: nsCL/P; ALSPAC; Mendelian randomization; Epigenetics
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
URI: https://discovery.ucl.ac.uk/id/eprint/10056491
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