Department of Clinical Immunology, Medical University, Sofia, Bulgaria; Department of Clinical Immunology and Stem Cell Bank, Alexandrovska University Hospital, Sofia, Bulgaria.
Department of Clinical Immunology, Medical University, Sofia, Bulgaria; Department of Clinical Immunology and Stem Cell Bank, Alexandrovska University Hospital, Sofia, Bulgaria.
Hum Immunol. 2022 Jul;83(7):551-555. doi: 10.1016/j.humimm.2022.04.006. Epub 2022 May 5.
Although human leukocyte antigen (HLA) gene polymorphism has been investigated in many populations around the world, the data on MHC class I chain-related (MIC) genes are still limited. The present study is aimed to analyze the allelic polymorphism of MICA and MICB genes and haplotype associations with HLA-B locus in 132 healthy, unrelated individuals from the Bulgarian population by next generation sequencing (NGS). A total of 36 MICA and 16 MICB alleles were observed with the highest frequency detected for MICA008:01 (17.1%) and MICB005:02 (32.4%). Further, two and three-loci haplotype frequencies and pairwise linkage disequilibrium were estimated. Highly significant global linkage disequilibrium was found between either HLA-B and MICA and MICB genes. This is the first study on MICA and MICB allelic polymorphism, linkage disequilibrium, and haplotype polymorphism in the Bulgarian population. These results will allow for better characterization of the genetic heterogeneity of the Bulgarian population and could contribute to further analyses on MICA and MICB clinical significance.
虽然人类白细胞抗原(HLA)基因多态性已在世界许多人群中进行了研究,但 MHC Ⅰ类链相关(MIC)基因的数据仍然有限。本研究旨在通过下一代测序(NGS)分析 132 名来自保加利亚人群的健康、无关个体的 MICA 和 MICB 基因的等位基因多态性和与 HLA-B 位点的单倍型关联。共观察到 36 种 MICA 和 16 种 MICB 等位基因,其中 MICA008:01(17.1%)和 MICB005:02(32.4%)的频率最高。此外,还估计了两和三基因座单倍型频率和成对连锁不平衡。在 HLA-B 和 MICA 和 MICB 基因之间发现了高度显著的全局连锁不平衡。这是在保加利亚人群中对 MICA 和 MICB 等位基因多态性、连锁不平衡和单倍型多态性的首次研究。这些结果将有助于更好地描述保加利亚人群的遗传异质性,并有助于进一步分析 MICA 和 MICB 的临床意义。