Human leukocyte antigen polymorphisms in the Taiwanese population

Area of Science:

• Immunogenetics
• Population Genetics
• Anthropology

Background:

• Human Leukocyte Antigen (HLA) polymorphisms are crucial for transplantation, anthropology, and forensics.
• Understanding HLA diversity in specific populations is essential for medical and evolutionary studies.

Purpose of the Study:

• To investigate and report the gene frequencies of HLA classes I and II in the Taiwanese population.
• To analyze HLA haplotype frequencies and linkage disequilibrium in Taiwanese individuals.
• To compare Taiwanese HLA profiles with other Chinese populations.

Main Methods:

• Serologic typing and Polymerase Chain Reaction (PCR) with sequence-specific primers were employed.
• HLA-A, -B, and -C gene frequencies were calculated for 673 subjects.
• HLA-DRB1 and HLA-DQB1 gene frequencies were determined for 204 subjects with available DNA.

Main Results:

• Common HLA class I antigens identified include A11, A2, A24, A33, B60, B46, B58, B13, Cw1, Cw7, and Cw10.
• Common HLA-DRB1 alleles were DRB1*12, DRB1*09, DRB1*08, and DRB1*04.
• Common HLA-DQB1 alleles included DQB1*0301, DQB1*0303, DQB1*0601, and DQB1*02.
• Key two-locus haplotypes were A2-B46, A11-B60, A33-B58, DRB1*09-DQB1*0303, DRB1*12-DQB1*0301, and DRB1*08-DQB1*0601.

Conclusions:

• This study provides the first report on HLA-DQB1 allele frequencies and common HLA-DR-DQ haplotypes in the Taiwanese population.
• The HLA genetic profile of Taiwanese individuals suggests a closer relationship to southern Han Chinese populations.
• These findings contribute valuable data for HLA-based research in Taiwan and comparative population genetics.