Lactase deficiency in Russia: multiethnic genetic study

Abstract

BackgroundLactase 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 de ciency, is still affecting large numbers of people worldwide. MethodsWe performed the largest multiethnic genetic study of lactase de ciency on 24439 people 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 in client's questionnaire. ResultsIt turned out that among all studied population groups the frequency of GG genotype in rs4988235 was higher than in average in the European populations. In particular, the prevalence of lactase de ciency genotype in the East Slavs group was 42.8% (95% CI: 42.1-43.4%). We also investigated the regional prevalence of lactase de ciency by current place of residence. ConclusionsOur study emphasizes the diagnostic signi cance of genetic testing, i.e. speci cally for lactose intolerance parameter, as well as the scale of the problem of lactase de ciency in Russia which needs to be addressed by healthcare and food industry.