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).
Preview |
Text
Howe_epi-2018-0091.pdf - Published Version Download (926kB) | Preview |
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 |
Archive Staff Only
 |
View Item |
