| Title: |
Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate |
| Authors: |
Howe, LJ; Richardson, TG; Arathimos, R; Alvizi, L; Passos-Bueno, M-R; Stanier, PM; Nohr, E; Ludwig, KU; Mangold, E; Knapp, M; Stergiakouli, E; St Pourcain, B; Davey Smith, G; Sandy, J; Relton, CL; Lewis, SJ; Hemani, G; Sharp, GC |
| Source: |
Epigenomics (2019) (In press). |
| Publisher Information: |
Future Medicine |
| Publication Year: |
2019 |
| Collection: |
University College London: UCL Discovery |
| Subject Terms: |
nsCL/P; ALSPAC; Mendelian randomization; Epigenetics |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
text |
| Language: |
English |
| Relation: |
https://discovery.ucl.ac.uk/id/eprint/10056491/ |
| Availability: |
https://discovery.ucl.ac.uk/id/eprint/10056491/7/Howe_epi-2018-0091.pdf; https://discovery.ucl.ac.uk/id/eprint/10056491/ |
| Rights: |
open |
| Accession Number: |
edsbas.129A4404 |
| Database: |
BASE |