Abstract
Minimally invasive sampling methods for collecting oral fluids or cells are preferred in genetic research involving children and in large-scale studies where the biological sample could be mailed to the laboratory at room temperature. Saliva is an easily accessible source of cells, containing both epithelial cells exfoliating from the oral mucosa, and leukocytes filtrating from blood vessels. While it does not matter which type of somatic cells are used for genetic analyses, extreme caution and proper correction are necessary in DNA methylation analyses to address the technical heterogeneity in samples with different cell composition, since the majority of the epigenetic marks are tissue specific.
High-quantity and high-quality DNA can be obtained from whole saliva samples (collected by passive drooling) or from collection devices which usually absorb cells when collecting saliva. Although salivary DNA is a mix of human and bacterial DNA, due to the species-specific amplification step in the genoty** procedures, it can be used both in candidate gene analyses and genome-wide association studies. With a careful design and appropriate additional analytical steps, salivary DNA samples can be also successfully applied in epigenetic association studies. The technical recommendations for these studies are highlighted in this chapter.
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Acknowledgments
I thank Zsanett Botos-Hofbauer graphic designer for drawing Fig. 6.1, and my colleagues and collaborators—especially Melissa Nicolosi—for their helpful comments. I would also like to acknowledge my Marie Curie International Outgoing Fellowship within the 7th European Community Framework Programme (FP7-PEOPLE-2010-IOF N° 276107), which gave me the possibility to explore epigenetic techniques.
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Nemoda, Z. (2020). The Use of Saliva for Genetic and Epigenetic Research. In: Granger, D., Taylor, M. (eds) Salivary Bioscience. Springer, Cham. https://doi.org/10.1007/978-3-030-35784-9_6
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