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HLA Alleles and Haplotype Distribution Across Russian Population Groups.

Varvara Kucherenko1, Natalia Doroschuk2, Elizaveta Sarygina2

  • 1Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, 125315 Moscow, Russia.

International Journal of Molecular Sciences
|June 12, 2026
PubMed
Summary

This study details human leukocyte antigen (HLA) allele frequencies in over 18,000 Russians, stratified into 14 ethnic groups. The data enhances understanding of genetic diversity and disease associations, particularly for type 1 diabetes (T1D).

Keywords:
HLARussiaWGSallele frequency

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Area of Science:

  • Genetics
  • Immunogenetics
  • Population Genetics

Background:

  • Human leukocyte antigen (HLA) loci are highly polymorphic and crucial for immune response.
  • Existing population HLA frequency databases suffer from biases and inconsistencies, complicating cross-study comparisons.
  • Accurate HLA frequency data is essential for population genetics and disease association studies.

Purpose of the Study:

  • To present comprehensive human leukocyte antigen (HLA) allele and haplotype frequencies for the Russian population.
  • To stratify HLA frequencies across 14 distinct ethnic groups within the Russian cohort.
  • To demonstrate the application of HLA frequency data in population-based disease studies, using type 1 diabetes (T1D) as a model.

Main Methods:

  • Whole genome sequencing of over 18,000 individuals from the Russian population.
  • Principal Component Analysis (PCA) and admixture analysis for cohort stratification into ethnic groups.
  • Calculation and reporting of allele and haplotype frequencies for HLA class I and class II loci.

Main Results:

  • Detailed HLA-A, -B, -C, -DRB1, -DQB1, and -DQA1 allele frequencies and combined haplotypes were determined for 14 Russian ethnic groups.
  • High frequency saturation (96%) was achieved for 12 of the 14 groups.
  • Significant differences in HLA allele frequencies, including risk and protective alleles for type 1 diabetes (T1D), were observed between genetically defined population clusters.

Conclusions:

  • The study provides valuable, publicly accessible HLA frequency data for East Europe and North Asia, significantly improving sparse regional coverage.
  • The generated data is crucial for understanding population-specific genetic diversity and its implications for immune-related diseases.
  • The findings underscore the importance of population-specific HLA data for accurate disease risk assessment and personalized medicine approaches.