National Laboratory Researchers Nazarbayev University created the first large-scale genotyping dataset of healthy residents of Kazakhstan. This is a significant contribution to global population genomics and biomedical research.

Work published in the journal Scientific Datapresents an analysis of the genetic diversity of 224 participants representing different regions of Kazakhstan and tribal groups.

Map of the genetic heritage of the Great Steppe

Despite the importance of Central Asia, its population is poorly represented in global genome databases. To fill this gap, the Nazarbayev University team generated and analyzed than 523,000 single nucleotide polymorphisms.

Single nucleotide polymorphisms are differences in DNA that occur at the level of a single nucleotide (the basic component of DNA). There are millions of such differences in the human genome, and each of them represents the replacement of one nitrogen base with another in a certain way.isny position in DNA. For example, at one point in the genome, one person may have adenine (A) and another person may have cytosine (C).

These differences may affect various aspects of health, including susceptibility to disease, the effectiveness of treatment, or metabolic patterns. In this context, the study of single nucleotide polymorphisms in the population of Kazakhstan helps to identify genetic features that may be characteristic of this population

This dataset reveals the genetic profile of Kazakhstan as a unique bridge between Eastern and Western Eurasia.

“We aimed to create a genomic basis for personalized medicine and population-based research in Kazakhstan. The genetic landscape of the Kazakhs reflects centuries of interaction along the Silk Road,” explained Professor Ulykbek Kairov, project leader.

Biomedical significance of the results

The study identified 74 gene variants specific to the Kazakh population with potential biomedical significance, particularly in the areas of metabolism and drug response.

Notable examples:

• CYP4F2 (rs2108622) is a gene variant that affects the metabolism of anticoagulants (drugs against blood clots) such as warfarin. It occurs frequently in Kazakhs than in East Asians or Europe, indicating the need for individual dosage adjustments for this population.
• ADH7 (rs971074) – associated with alcohol metabolism and risk of upper respiratory tract cancer. This variant is common among Kazakhs and may be associated with high cancer rates in the country.
• APOE (rs7412) and CETP (rs5880) – affect lipid metabolism, which corresponds to the high-fat diet of the nomadic Kazakh peoples.
• RREB1 (rs9379084) – associated with glucose regulation and susceptibility to type 2 diabetes.

The study also found low levels of inbreeding and a low frequency of homozygous alleles, confirming cultural practices that discourage marriage between relatives.

The genotyping data is publicly available at the European Variation Archive (accession number PRJEB89820) and the corresponding code is available on GitHub.