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

Howe, L. J., Richardson, T. G., Arathimos, R., Alvizi, L., Passos-Bueno, M. R., Stanier, P., et al. (2019). Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate. Epigenomics, 11(2), 133-145. doi:10.2217/epi-2018-0091.

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Item Permalink: https://hdl.handle.net/21.11116/0000-0003-14CB-2 Version Permalink: https://hdl.handle.net/21.11116/0000-0003-570E-D
Genre: Journal Article

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 Creators:
Howe, Laurence J.1, 2, Author
Richardson, Tom G.1, Author
Arathimos, Ryan1, Author
Alvizi, Lucas3, Author
Passos-Bueno, Maria R., Author
Stanier, Philip4, Author
Nohr, Ellen5, Author
Ludwig, Kerstin U.6, 7, Author
Mangold, Elisabeth6, Author
Knapp, Michael8, Author
Stergiakouli, Evie1, Author
St Pourcain, Beate1, 9, 10, 11, Author           
Smith, George Davey1, Author
Sandy, Jonathan12, Author
Relton, Caroline L1, Author
Lewis, Sarah J1, 12, Author
Hemani, Gibran1, Author
Sharp, Gemma C.1, Author
Affiliations:
1MRC Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, UK, ou_persistent22              
2Institute of Cardiovascular Science, University College London, London, UK, ou_persistent22              
3Centro de Pesquisas Sobre o Genoma Humano eCélulas-Tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil, ou_persistent22              
4Genetics & Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK, ou_persistent22              
5Institute of Public Health, Aarhus University, Aarhus, Denmark, ou_persistent22              
6Institute of Human Genetics, University of Bonn, Bonn, Germany, ou_persistent22              
7Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany, ou_persistent22              
8Institute of Medical Biometry, Informatics & Epidemiology, University of Bonn, Bonn, Germany, ou_persistent22              
9Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society, Nijmegen, NL, ou_792549              
10Donders Institute for Brain, Cognition and Behaviour, External Organizations, ou_55236              
11Population genetics of human communication, MPI for Psycholinguistics, Max Planck Society, Wundtlaan 1, 6525 XD Nijmegen, NL, ou_2579694              
12Bristol Dental School, University of Bristol, Bristol, UK, ou_persistent22              

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

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Language(s): eng - English
 Dates: 2019-01-14
 Publication Status: Published online
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.2217/epi-2018-0091
 Degree: -

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Title: Epigenomics
Source Genre: Journal
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Pages: - Volume / Issue: 11 (2) Sequence Number: - Start / End Page: 133 - 145 Identifier: -