Dican Lucia, Iancu Mihaela, Elec Florin Ioan, Burghelea Dan, Timoce Raluca, Catana Cristina Sorina, Marta Monica Mihaela, Lucaciu Roxana Liana, Hangan Adriana Corina, Matei Horea Vladi, Loga Luminița-Ioana Iancu
Department of Medical Biochemistry, Faculty of Medicine, "Iuliu-Hațieganu" University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
Clinical Institute of Urology and Renal Transplantation, 400000 Cluj-Napoca, Romania.
Life (Basel). 2024 Sep 28;14(10):1243. doi: 10.3390/life14101243.
The HLA profile is essential in cell and tissue transplantation, particularly in patients with autoimmune conditions and infections. Due to the extreme polymorphism in certain HLA loci, it also serves as a key tool for population genetic analysis. This study aimed to identify the allele and haplotype distributions of HLA class I (A, B, and C) and class II (DRB1) genotypes in unrelated hematopoietic stem cell donors. A retrospective analysis was conducted between 2016 and 2020 on 9832 Transylvanian volunteers, divided into Romanian and Hungarian groups based on self-reported ethnicity. Using PCR-SSO for HLA typing, significant differences were found in allele frequencies between ethnic groups. A total of 19 HLA-A, 31 HLA-B, 14 HLA-C, and 13 HLA-DRB1 distinct allele groups were identified between ethnic groups. Notably, B18, B51, and C12 were more frequent in Romanians, while B44, B40, and C07 were more common in Hungarians. Differences in haplotype distributions were also observed, with HLA-A02~B18C*07DRB1*11 being significantly more frequent in Romanians. Understanding these population-specific HLA profiles can improve donor matching for hematologic diseases, enhancing patient outcomes and access to life-saving hematopoietic stem cell transplantation.
HLA分型在细胞和组织移植中至关重要，尤其是在自身免疫性疾病和感染患者中。由于某些HLA基因座存在极端多态性，它也是群体遗传分析的关键工具。本研究旨在确定无关造血干细胞供体中HLA I类（A、B和C）和II类（DRB1）基因型的等位基因和单倍型分布。对9832名特兰西瓦尼亚志愿者在2016年至2020年间进行了回顾性分析，根据自我报告的种族分为罗马尼亚组和匈牙利组。使用聚合酶链反应-序列特异性寡核苷酸探针技术（PCR-SSO）进行HLA分型，发现不同种族之间的等位基因频率存在显著差异。在不同种族之间共鉴定出19个HLA-A、31个HLA-B、14个HLA-C和13个HLA-DRB1不同的等位基因组。值得注意的是，B18、B51和C12在罗马尼亚人中更为常见，而B44、B40和C07在匈牙利人中更为常见。单倍型分布也存在差异，HLA-A02~B18C*07DRB1*11在罗马尼亚人中显著更常见。了解这些特定人群的HLA分型可以改善血液系统疾病的供体匹配，提高患者的治疗效果并增加获得挽救生命的造血干细胞移植的机会。
