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Lactase non-persistence, or adult lactase deficiency, is common in Russia. Genetic testing reveals a high prevalence of the lactase deficiency genotype, particularly in East Slavs, highlighting a significant public health issue.

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Area of Science:

  • Human Genetics
  • Population Genetics
  • Nutritional Science

Background:

  • Lactase persistence, the ability to digest lactose in adulthood, is an evolutionary adaptation linked to cattle breeding.
  • Lactase non-persistence (adult lactase deficiency) remains prevalent globally.
  • Understanding lactase deficiency is crucial for public health and dietary considerations.

Purpose of the Study:

  • To conduct a large-scale genetic study of lactase deficiency in Russia.
  • To determine the prevalence of the lactase deficiency genotype (rs4988235 GG) across diverse Russian populations.
  • To investigate regional variations in lactase deficiency within Russia.

Main Methods:

  • A multiethnic genetic study involving 24,439 individuals in Russia.
  • Local ancestry inference to estimate population group percentages.
  • Calculation of rs4988235 GG genotype frequencies using questionnaire data on location and birthplace.

Main Results:

  • The frequency of the rs4988235 GG genotype in Russia exceeds the European average.
  • East Slavs exhibit a high prevalence of the lactase deficiency genotype at 42.8%.
  • Regional variations in lactase deficiency prevalence were identified based on residence.

Conclusions:

  • Genetic testing for lactose intolerance is significant for diagnostics.
  • Lactase deficiency is a widespread issue in Russia requiring attention from healthcare and food industries.
  • The study underscores the need for addressing lactase deficiency in public health strategies.