Abstract
Phenotypic characteristics are known to vary substantially among different ethnicities around the globe. These variations are mediated by number of stochastic events and cannot be attributed to genetic architecture alone. DNA methylation is a well-established mechanism that sculpts our epigenome influencing phenotypic variation including disease manifestation. Since DNA methylation is an important determinant for health issues of a population, it demands a thorough investigation of the natural differences in genome wide DNA methylation patterns across different ethnic groups. This study is based on comparative analyses of methylome from five different ethnicities with major focus on Indian subjects. The current study uses hierarchical clustering approaches, principal component analysis and locus specific differential methylation analysis on Illumina 450K methylation data to compare methylome of different ethnic subjects. Our data indicates that the variations in DNA methylation patterns of Indians are less among themselves compared to other global population. It empirically correlated with dietary, cultural and demographical divergences across different ethnic groups. Our work further suggests that Indians included in this study, despite their genetic similarity with the Caucasian population, are in close proximity with Japanese in terms of their methylation signatures.
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Acknowledgements
We thank all the participating subjects and acknowledge the support and participation of members of the INdian DIabetes COnsortium (INDICO) for the generation of data. This work was supported by the Council of Scientific and Industrial Research [CSIR], Government of India through Centre for Cardiovascular and Metabolic Disease Research [CARDIOMED] project [Grant No.: BSC0122-(9)]. We thank Dr. Sandip K. Basu and Dr. Abhay Sharma for critically evaluating the manuscript and thanks to Mr. Praveen Gupta, Premas Biotech Pvt Ltd, Gurgaon, India for gifting some specific reagents for this study when it was required most.
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All procedures performed in studies involving human participants were in accordance with the ethical standards of the Human Ethics Committee of CSIR-Institute of Genomics and Integrative Biology and Institute Ethics Committee of All India Institute of Medical Sciences, New Delhi and carried out in accordance with the principles of the 1964 Helsinki declarations and its later amendments or comparable ethical standards.
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Communicated by S. Hohmann.
A. K. Giri and S. Bharadwaj equally contributed.
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Giri, A.K., Bharadwaj, S., Banerjee, P. et al. DNA methylation profiling reveals the presence of population-specific signatures correlating with phenotypic characteristics. Mol Genet Genomics 292, 655–662 (2017). https://doi.org/10.1007/s00438-017-1298-0
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DOI: https://doi.org/10.1007/s00438-017-1298-0