[The distribution of high-resolution alleles and haplotypes of HLA-A, -B, -C, -DRB1, and -DQB1 in the Han population of Shandong Province].

Objective This study aims to investigate the polymorphism and distribution characteristics of high-resolution HLA-A, -B, -C, -DRB1, and -DQB1 alleles and haplotypes in the Han population from Shandong province. Methods High-resolution genotyping of HLA-A, -B, -C, -DRB1, and -DQB1 loci was performed on 8618 samples using the PCR-SBT method. Allele frequencies and haplotypes were analyzed with Arlequin 3.5 software, phylogenetic analysis was conducted using Mega 6.0, and multidimensional scaling analysis was performed with SPSS 21.0. Results In this study, the number of distinct alleles detected among the 8618 samples was as follows: 53 HLA-A alleles, 108 HLA-B alleles, 67 HLA-C alleles, 53 HLA-DRB1 alleles, and 25 HLA-DQB1 alleles, including 24 rare alleles. The most common alleles at the HLA-A, -B, -C, -DRB1, and -DQB1 loci were A*02:01, B*13:02, C*06:02, DRB1*15:01, and DQB1*03:01, respectively. A total of 4957 HLA-A-B-C-DRB1-DQB1 haplotypes were detected, among which five had a frequency greater than 1%. The most common haplotype was A*30:01-B*13:02-C*06:02-DRB1*07:01-DQB1*02:01. Phylogenetic analysis showed that the Shandong Han population clustered together with the Northern Han population, and the multidimensional scaling analysis yielded results consistent with the phylogenetic analysis. Conclusion This study provides relatively comprehensive high-resolution distribution data of HLA-A, -B, -C, -DRB1, and -DQB1 alleles and haplotypes in the Shandong Han population, enriching the HLA polymorphism data for this region. More importantly, for the first time based on a large sample, this study reveals the distribution characteristics of high-resolution HLA-A, -B, -C, -DRB1, and -DQB1 alleles and haplotypes in the Shandong Han population, filling the gap in high-quality HLA genetic data for this region. These findings provide an important basis for optimizing hematopoietic stem cell donor registries, developing transplantation matching strategies, and conducting disease association studies.