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Gene methylation parallelisms between peripheral blood cells and oral mucosa samples in relation to overweight

Lookup NU author(s): Dr Carlos Celis Morales, Dr Katherine Livingstone, Professor Lorraine Brennan, Eileen Gibney, Professor John Mathers



This is the of an article that has been published in its final definitive form by Springer Netherlands, 2016.

For re-use rights please refer to the publisher's terms and conditions.


© 2017 University of Navarra Epigenetics has an important role in the regulation of metabolic adaptation to environmental modifications. In this sense, the determination of epigenetic changes in non-invasive samples during the development of metabolic diseases could play an important role in the procedures in primary healthcare practice. To help translate the knowledge of epigenetics to public health practice, the present study aims to explore the parallelism of methylation levels between white blood cells and buccal samples in relation to obesity and associated disorders. Blood and buccal swap samples were collected from a subsample of the Spanish cohort of the Food4Me study. Infinium HumanMethylation450 DNA Analysis was carried out for the determination of methylation levels. Standard deviation for β values method and concordance correlation analysis were used to select those CpG which showed best parallelism between samples. A total of 277 CpGs met the criteria and were selected for an enrichment analysis and a correlation analysis with anthropometrical and clinical parameters. From those selected CpGs, four presented high associations with BMI (cg01055691 in GAP43; r = −0.92 and rho = −0.84 for blood; r = −0.89 and rho = −0.83 for buccal sample), HOMA-IR (cg00095677 in ATP2A3; r = 0.82 and rho = −0.84 for blood; r = −0.8 and rho = −0.83 for buccal sample) and leptin (cg14464133 in ADARB2; r = −0.9182 and rho = −0.94 for blood; r = −0.893 and rho = −0.79 for buccal sample). These findings demonstrate the potential application of non-invasive buccal samples in the identification of surrogate epigenetic biomarkers and identify methylation sites in GAP43, ATP2A3 and ADARB2 genes as potential targets in relation to overweight management and insulin sensibility.

Publication metadata

Author(s): San-Cristobal R, Navas-Carretero S, Milagro FI, Riezu-Boj JI, Guruceaga E, Celis-Morales C, Livingstone KM, Brennan L, Lovegrove JA, Daniel H, Saris WH, Traczyk I, Manios Y, Gibney ER, Gibney MJ, Mathers JC, Martinez JA

Publication type: Article

Publication status: Published

Journal: Journal of Physiology and Biochemistry

Year: 2016

Volume: 73

Issue: 3

Pages: 465-474

Online publication date: 28/03/2017

Acceptance date: 16/03/2017

Date deposited: 26/04/2017

ISSN (print): 1138-7548

ISSN (electronic): 1877-8755

Publisher: Springer Netherlands


DOI: 10.1007/s13105-017-0560-6


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