HLA Allelic and Haplotypic Organization in Common ABO Blood Group Phenotypes: A Single-Center Cross-Sectional...

Area of Science:

• Immunogenetics
• Population Genetics

Background:

• The Human Leukocyte Antigen (HLA) system is crucial for immune response and transplantation.
• ABO blood groups are important serological markers with known associations with certain diseases.
• Understanding the interplay between HLA and ABO blood groups in healthy populations is vital for transfusion medicine and transplantation.

Purpose of the Study:

• To investigate the relationship between the Human Leukocyte Antigen (HLA) system and ABO blood groups in healthy donors.
• To perform a comparative analysis of HLA immunogenetic architecture between A Rh(+) and O Rh(+) individuals.

Main Methods:

• Retrospective analysis of 346 unrelated healthy donors.
• Genotyping of HLA-A, -B, -C, -DRB1, -DQB1, and -DPB1 loci using DNA-based PCR-SSO.
• Analysis of allele frequencies, haplotype distributions, Hardy-Weinberg equilibrium (HWE), and linkage disequilibrium (LD) using PyPop software.

Main Results:

• Broadly similar HLA allele distributions between A Rh(+) and O Rh(+) groups.
• Enrichment of DRB116 in A Rh(+) donors (p=0.049) and B49, DPB113, DPB101 in O Rh(+) donors (p<0.05).
• Distinct linkage disequilibrium patterns observed between groups (e.g., DQB1-DPB1 in A Rh(+); HLA-A-DQB1 in O Rh(+)).

Conclusions:

• A Rh(+) and O Rh(+) donors share a largely similar HLA genetic background.
• Modest but detectable differences in specific HLA alleles and LD patterns exist.
• These variations may reflect minor population heterogeneity and can inform donor matching and population-based studies.