Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate-Reference-Cited by-同舟云学术

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

Published:2019-02 Issue:2 Volume:11 Page:133-145
ISSN:1750-1911
Container-title:Epigenomics
language:en
Short-container-title:Epigenomics

Author:

Howe Laurence J¹²,Richardson Tom G¹,Arathimos Ryan¹,Alvizi Lucas³,Passos-Bueno Maria R,Stanier Philip⁴,Nohr Ellen⁵,Ludwig Kerstin U⁶⁷,Mangold Elisabeth⁶,Knapp Michael⁸,Stergiakouli Evie¹,Pourcain Beate St¹⁹¹⁰,Smith George Davey¹,Sandy Jonathan¹¹,Relton Caroline L¹,Lewis Sarah J¹¹¹,Hemani Gibran¹,Sharp Gemma C¹¹¹

Affiliation:

1. MRC Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, BS8 2BN, UK

2. Institute of Cardiovascular Science, University College London, London, NW1 2DA, UK

3. Centro de Pesquisas Sobre o Genoma Humano eCélulas-Tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil

4. Genetics & Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 3JH, UK

5. Institute of Public Health, Aarhus University, Aarhus, Denmark

6. Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany

7. Department of Genomics, Life & Brain Center, University of Bonn, 53127 Bonn, Germany

8. Institute of Medical Biometry, Informatics & Epidemiology, University of Bonn, 53127 Bonn, Germany

9. Max Planck Institute for Psycholinguistics, Nijmegen, 6525 XD, Netherlands

10. Donders Institute, 6525 EN Nijmegen, The Netherlands

11. Bristol Dental School, University of Bristol, BS8 2BN, UK

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.

Publisher

Future Medicine Ltd

Subject

Cancer Research,Genetics

Link

https://www.futuremedicine.com/doi/pdf/10.2217/epi-2018-0091

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