Department of Immunology and Transplantation Immunology, "Carol Davila" University of Medicine and Pharmacy, 022328 Bucharest, Romania.
Center for Immunogenetics and Virology, Fundeni Clinical Institute, 022328 Bucharest, Romania.
Int J Mol Sci. 2024 Aug 14;25(16):8837. doi: 10.3390/ijms25168837.
The HLA genes are associated with various autoimmune pathologies, with the control of the immune response also being significant in organs and cells transplantation. The aim of the study is to identify the HLA-A, HLA-B, and HLA-C alleles frequencies in the analyzed Romanian cohort. We performed HLA typing using next-generation sequencing (NGS) in a Romanian cohort to estimate class I HLA allele frequencies up to a six-digit resolution. A total of 420 voluntary donors from the National Registry of Voluntary Hematopoietic Stem Cell Donors (RNDVCSH) were included in the study for HLA genotyping. Peripheral blood samples were taken and brought to the Fundeni Clinical Institute during 2020-2021. HLA genotyping was performed using the Immucor Mia Fora NGS MFlex kit. A total of 109 different alleles were detected in 420 analyzed samples, out of which 31 were for HLA-A, 49 for HLA-B, and 29 for HLA-C. The most frequent HLA-A alleles were HLA-A02:01:01 (26.11%), HLA-A01:01:01 (12.5%), HLA-A24:02:01 (11.67%), HLA-A03:01:01 (9.72%), HLA-A11:01:01, and HLA-A32:01:01 (each with 8.6%). For the HLA-B locus, the most frequent allele was HLA-B18:01:01 (11.25%), followed by HLA-B51:01:01 (10.83%) and HLA-B08:01:01 (7.78%). The most common HLA-C alleles were HLA-C07:01:01 (17.36%), HLA-C04:01:01 (13.47%), and HLA-C12:03:01 (10.69%). Follow-up studies are ongoing for confirming the detected results.
HLA 基因与各种自身免疫性疾病有关,免疫反应的控制在器官和细胞移植中也很重要。本研究的目的是确定分析的罗马尼亚队列中的 HLA-A、HLA-B 和 HLA-C 等位基因频率。我们使用下一代测序(NGS)对罗马尼亚队列进行 HLA 分型,以达到六位分辨率估计 I 类 HLA 等位基因频率。共有 420 名来自国家自愿造血干细胞捐献者登记处(RNDVCSH)的志愿者参与了这项研究,进行 HLA 基因分型。在 2020 年至 2021 年期间,采集了外周血样并带到 Fundeni 临床研究所。HLA 基因分型使用 Immucor Mia Fora NGS MFlex 试剂盒进行。在 420 个分析样本中检测到 109 个不同的等位基因,其中 31 个为 HLA-A,49 个为 HLA-B,29 个为 HLA-C。最常见的 HLA-A 等位基因为 HLA-A02:01:01(26.11%)、HLA-A01:01:01(12.5%)、HLA-A24:02:01(11.67%)、HLA-A03:01:01(9.72%)、HLA-A11:01:01 和 HLA-A32:01:01(各 8.6%)。对于 HLA-B 基因座,最常见的等位基因为 HLA-B18:01:01(11.25%),其次是 HLA-B51:01:01(10.83%)和 HLA-B08:01:01(7.78%)。最常见的 HLA-C 等位基因为 HLA-C07:01:01(17.36%)、HLA-C04:01:01(13.47%)和 HLA-C12:03:01(10.69%)。正在进行后续研究以确认检测结果。