杀伤细胞免疫球蛋白样受体KIR2DS4等位基因与疾病相关性的研究进展

杀伤细胞免疫球蛋白样受体(KIR)主要表达于自然杀伤(NK)细胞及某些T细胞表面，可调节NK细胞功能。KIR编码基因具有高度多态性，可组成不同单倍型。其中KIR2DS4具有多种等位基因，是单倍型A携带的唯一活化性KIR基因，编码功能性KIR2DS4受体，而当其在第5外显子丢失22 bp碱基后即成为KIR1D基因，编码无功能的可溶性受体KIR1D。由于KIR2DS4具有独特的基因特征、单倍型和群体分布特征，以及KIR2DS4受体与配体的关系，使其在KIR与疾病相关性研究中尤为重要。笔者拟就近年来KIR2DS4等位基因与疾病相关性的研究进展进行综述。

Research progress of the association of killer cell immunoglobulin-like receptor 2DS4 alleles and diseases

The killer cell immunoglobulin-like receptors (KIR), which are mainly expressed on the surface of natural killer (NK) cells and some populations of T cells, regulate the activity of NK cells. KIR genes are highly polymorphic, which result in different KIR haplotypes. The group A haplotypes carry only one activating KIR gene, KIR2DS4, which often has a 22 bp deletion in exon 5 and encodes a soluble nonfunctional receptor KIR1D. KIR2DS4 has specific gene structures, haplotype and population distribution, thus plays an important role in the association of KIR genes and diseases. Here we summarize recent research progress in light of the association of KIR2DS4 alleles and diseases.