Lactase deficiency in Russia: multiethnic genetic study

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.