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Genomics and personalized strategies in nutrition

Lactase deficiency in Russia: multiethnic genetic study

European Journal of Clinical Nutrition volume 77, pages 803–810 (2023)Cite this article

Subjects

Abstract

Background

Lactase persistence—the ability to digest lactose through adulthood—is closely related to evolutionary adaptations and has affected many populations since the beginning of cattle breeding. Nevertheless, the contrast initial phenotype, lactase non-persistence or adult lactase deficiency, is still observed in large numbers of people worldwide.

Methods

We performed a multiethnic genetic study of lactase deficiency on 24,439 people, the largest in Russia to date. The percent of each population group was estimated according to the local ancestry inference results. Additionally, we calculated frequencies of rs4988235 GG genotype in Russian regions using the information of current location and birthplace data from the client’s questionnaire.

Results

The attained results show that among all studied population groups, the frequency of GG genotype in rs4988235 is higher than the average in the European populations. In particular, the prevalence of lactase deficiency genotype in the East Slavs group was 42.8% (95% CI: 42.1–43.4%). We also investigated the regional prevalence of lactase deficiency based on the current place of residence.

Conclusions

Our study emphasizes the significance of genetic testing for diagnostics, i.e., specifically for lactose intolerance parameter, as well as the scale of the problem of lactase deficiency in Russia which needs to be addressed by the healthcare and food sectors.

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Fig. 1
Fig. 2: Frequency distribution of lactase deficiency genotype (rs4988235 GG) in different population groups.

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Data availability

For the Genotek dataset, the user agreement (available at https://www.genotek.ru) states that disclosure of individual-level genetic information and/or self-reported information to third parties for research purposes will not occur without explicit consent, and the consent was not obtained from the individuals. Due to the user agreement, the individual level cannot be made directly available, and the dataset could pose a threat to confidentiality. Data have to be accessed indirectly via Genotek Ltd, https://www.genotek.ru/. Data requests should be sent to Genotek Ltd at info@genotek.ru.

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Acknowledgements

We would like to extend our sincere thanks to Sophia Kuchina for her thorough manuscript review and helpful feedback and support.

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Authors and Affiliations

  1. Genotek Ltd., Moscow, Russia

    Elena Kovalenko, Ekaterina Vergasova, Iaroslav Popov, Anna Ilinskaya, Anna Kim, Nikolay Plotnikov, Isroel Barenbaum, Artem Elmuratov, Valery Ilinsky & Alexander Rakitko

  2. Lomonosov Moscow State University, Faculty of Biology, Moscow, Russia

    Olesya Shoshina & Olesya Volokh

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Contributions

EK, EV, OS, AR, and OV conceived and planned the study. EK, EV, AR, IP, and OS processed the experimental data. EK, EV, and OS implemented visualizations for analysis. AR, IP, and EV developed software. EK, EV, and IP conducted the statistical analysis. EK, EV, AR, IP, AK, NP, AI, and VI curated research data. IB provided study materials. AR, OV, VI, and AE administered the project. AR and OV supervised the whole study. EK, OS, EV, AR, and OV drafted the manuscript. All authors reviewed and edited the final manuscript.

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Correspondence to Alexander Rakitko.

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Kovalenko, E., Vergasova, E., Shoshina, O. et al. Lactase deficiency in Russia: multiethnic genetic study. Eur J Clin Nutr 77, 803–810 (2023). https://doi.org/10.1038/s41430-023-01294-8

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