HLA-DRB and -DQB1 polymorphism in the Macedonian population

Area of Science:

• Immunogenetics
• Population Genetics
• Molecular Anthropology

Background:

• Human Leukocyte Antigen (HLA) genes are crucial for immune response and transplantation.
• Understanding HLA polymorphism in diverse populations is essential for medical and anthropological insights.
• Previous HLA studies in Macedonian populations are limited, necessitating detailed genetic characterization.

Purpose of the Study:

• To investigate the polymorphism of HLA-DRB1, DRB3/4/5, and DQB1 loci in a healthy Macedonian population.
• To identify common alleles and haplotypes within this specific ethnic group.
• To compare findings with other European populations and identify any unique genetic patterns.

Main Methods:

• Molecular methods were employed to analyze DNA from 80 unrelated healthy Macedonian individuals.
• High-resolution typing was performed for HLA-DRB1, DRB3/4/5, and DQB1 gene regions.
• Statistical analysis was used to determine allele and haplotype frequencies.

Main Results:

• Twenty-five distinct DRB1 alleles were identified, with DRB1*1104, *1501, *1601, and *1101 being the most prevalent.
• Fifteen DQB1 alleles were found, dominated by DQB1*0301 and *0502.
• The most frequent three-locus haplotypes were DRB1*1104-DRB3*02-DQB1*0301 (18%), DRB1*1101-DRB3*02-DQB1*0301 (9%), and DRB1*1601-DRB5*02-DQB1*0502 (10%).
• Extensive polymorphism was observed for DRB1*04, *13, and *15 haplotypes, including eleven DR2-related haplotypes, some uncommon in Europeans.

Conclusions:

• The study provides a comprehensive profile of HLA-DRB1, DRB3/4/5, and DQB1 genetic variation in Macedonians.
• Identified allele and haplotype frequencies contribute valuable data for anthropological and clinical applications in the region.
• The presence of unusual DR2-related haplotypes suggests unique evolutionary or historical influences on the Macedonian gene pool.