伊朗卢尔族和库尔德人群中的 HLA I 类变异:高单倍型和同种异型多样性,存在丰富的 KIR 配体。
HLA class I variation in Iranian Lur and Kurd populations: high haplotype and allotype diversity with an abundance of KIR ligands.
机构信息
Department of Structural Biology, Stanford University School of Medicine, Stanford, CA, USA.
Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA, USA.
出版信息
HLA. 2016 Sep;88(3):87-99. doi: 10.1111/tan.12852. Epub 2016 Aug 24.
HLA-A, -B and -C alleles of 285 individuals, representing three Iranian Lur populations and one Iranian Kurd population were sequenced completely, yielding human leukocyte antigen (HLA) class I genotypes at high resolution and filling four fields of the official HLA nomenclature. Each population has 87-99 alleles, evenly distributed between the three HLA class I genes, 145 alleles being identified in total. These alleles were already known, named and deposited in the HLA database. The alleles form 316 different HLA A-B-C haplotypes, with each population having between 80 and 112 haplotypes. The four Iranian populations form a related group that is distinguished from other populations, including other Iranians. All four KIR ligands - the A3/11, Bw4, C1 and C2 epitopes - are well represented, particularly Bw4, which is carried by three high-frequency allotypes: HLA-A24:02, HLA-A32:01 and HLA-B51:01. In the Lur and Kurd populations, between 82% and 94% of individuals have the Bw4 epitope, the ligand for KIR3DL1. HLA-B51:01 is likely of Neandertal origin and associated with Behcet's disease, also known as the Silk Road disease. The Lordegan Lur have the highest frequency of HLA-B51:01 in the world. This allele is present on 46 Lur and Kurd haplotypes. Present at lower frequency is HLA-B51:08, which is also associated with Behcet's disease. In the four Iranian populations, 31 haplotypes encode both Bw4(+) HLA-A and Bw4(+) HLA-B, a dual combination of Bw4 epitopes that is relatively rare in other populations, worldwide. This study both demonstrates and emphasizes the value of studying HLA class I polymorphism at highest resolution in anthropologically well-defined populations.
对 285 名个体的 HLA-A、-B 和-C 等位基因进行了完全测序,这些个体代表了三个伊朗卢尔人群和一个伊朗库尔德人群,以高分辨率获得了人类白细胞抗原(HLA)I 类基因型,并填补了官方 HLA 命名法的四个领域。每个群体有 87-99 个等位基因,均匀分布在三个 HLA I 类基因之间,总共鉴定出 145 个等位基因。这些等位基因已经被命名并在 HLA 数据库中进行了注释。这些等位基因形成了 316 种不同的 HLA A-B-C 单体型,每个群体有 80-112 种单体型。四个伊朗人群形成了一个与其他人群相关的群体,包括其他伊朗人群。所有四个 KIR 配体——A3/11、Bw4、C1 和 C2 表位——都有很好的代表,特别是 Bw4,它由三个高频同种型携带:HLA-A24:02、HLA-A32:01 和 HLA-B51:01。在卢尔和库尔德人群中,82%-94%的个体具有 Bw4 表位,这是 KIR3DL1 的配体。HLA-B51:01 可能起源于尼安德特人,与贝切特病(也称为丝绸之路病)有关。洛尔丹的卢尔人拥有世界上最高频率的 HLA-B51:01。该等位基因存在于 46 个卢尔和库尔德单体型中。频率较低的是 HLA-B51:08,它也与贝切特病有关。在四个伊朗人群中,31 种单体型编码 Bw4(+)HLA-A 和 Bw4(+)HLA-B,这是一种 Bw4 表位的双重组合,在世界其他人群中相对罕见。本研究既展示了又强调了在人类学上定义明确的人群中以最高分辨率研究 HLA I 类多态性的价值。