Genophenotypic linkage analyses in population studies

The study was carried out on representative samples of Oirats from 14 populations in the Russian Federation, Kyrgyzstan, and Mongolia, collected in 2013-2017. The blood of 454 men served as material for the study of the Oirat gene pool, and 80 samples were genotyped using Illumina Omni Express v1.2 kits. The anthropological study sample was 1057 people (548 females and 509 males). Interpopulation distances for all studied systems (genetic, ethnoanthropological, anthropometric) and further calculation of pairwise closeness of distance matrices – multivariate generalisation of Pearson’s quadratic correlation coefficient – were used for comparison of genetic and anthropological data. Stable genophenotypic relationships between the applied genetic systems and anthropometric data of men and women were established, which indicates the stability of these relationships. Male anthropometric data are more strongly correlated with the genetic systems, with the strongest correlations showing transverse dimensions (0.81; 0.71; 0.72), skeletal proportions (0.73; 0.75; 0.52), followed by longitudinal dimensions (0.69; 0.62; 0.79) and girth dimensions (0.66; 0.70; 0.69). Such correlations are in favour of the applicability of anthropometric data in population studies and are suggested for introduction in the study of genetic diversity of the population.

1. Balinova N., Post H., Kushniarevich A., et al. Y-Chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia. European Journal of Human Genetics. 2019; 27(9): 1466-1474.

2. Balinova N., Hudjašov G., Pankratov V., et al. Gene pool preservation across time and space In Mongolian-speaking Oirats. Eur J Hum Genet. 2024; 32(9):1150-1158. doi: 10.1038/s41431-024-01588-w.

3. Khomyakova I.A., Balinova N.V. Antropologicheskiye osobennosti torgutov i derbetov Kalmykii i Zapadnoy Mongolii: sravnitel’nyy analiz [Anthropological features of Torghuts and Derbets of Kalmykia and Western Mongolia: a comparative analysis]. Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia [Moscow University Anthropology Bulletin]. 2017; 1: 15-32. (In Russ.)

4. Khomyakova I.A., Balinova N.V. Antropologicheskiye issledovaniya v Respublike Altay: predvaritel’nyy analiz morfologicheskikh osobennostey severnykh i yuzhnykh altaytsev [Anthropological research in the Altai Republic: Preliminary analysis of the morphological features of the Southern and Northern Altaians]. Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia [Moscow University Anthropology Bulletin]. 2017; 4: 28-41. (In Russ.)

5. Khomyakova I.A., Balinova N.V. Antropologicheskiye issledovaniya v Tuve i Severnoy Mongolii: tuvintsy, tuvintsy-todzhintsy, tsaatany [Anthropological studies in Tuva and Northern Mongolia: Tuvans, Tozhu Tuvans, Tsaatans]. Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia [Moscow University Anthropology Bulletin]. 2017; 2: 12-25. (In Russ.)

6. Kimura M. The neutral theory of molecular evolution: a review of recent evidence. Jpn J Genet. 1991;66: 367–386. doi:10.1266/jjg.66.367

7. Mahalanobis P. C. On the Generalized Distance in Statistics. Proceedings of the National Institute of Science of India. 1936;2: 49–55.

8. Danecek P., Auton A., Abecasis G., et al. The variant call format and VCFtools. Bioinformatics. 2011;27: 2156–2158. doi:10.1093/bioinformatics/btr330

9. Nei M. A New Measure of Genetic Distance. Genetic Distance. Boston, MA: Springer US; 1974; 63–76. doi:10.1007/978-1-4684-2139-2_6

10. Lê S., Josse J., Husson F. FactoMineR: An R Package for Multivariate Analysis. J Stat Softw. 2008;25: 1–18. doi:10.18637/jss.v025.i01