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Abstract：
The goals of the KIR component of the 17th International HLA and Immunogenetics Workshop (IHIW) were to encourage and educate researchers to begin analyzing KIR at allelic resolution, and to survey the nature and extent of KIR allelic diversity across human populations. To represent worldwide diversity, we analyzed 1269 individuals from ten populations, focusing on the most polymorphic KIR genes, which express receptors having three immunoglobulin (Ig)-like domains (KIR3DL1/S1, KIR3DL2 and KIR3DL3). We identified 13 novel alleles of KIR3DL1/S1, 13 of KIR3DL2 and 18 of KIR3DL3. Previously identified alleles, corresponding to 33 alleles of KIR3DL1/S1, 38 of KIR3DL2, and 43 of KIR3DL3, represented over 90% of the observed allele frequencies for these genes. In total we observed 37 KIR3DL1/S1 allotypes, 40 for KIR3DL2 and 44 for KIR3DL3. As KIR allotype diversity can affect NK cell function, this demonstrates potential for high functional diversity worldwide. Allelic variation further diversifies KIR haplotypes. We determined KIR3DL3 ∼ KIR3DL1/S1 ∼ KIR3DL2 haplotypes from five of the studied populations, and observed multiple population-specific haplotypes in each. This included 234 distinct haplotypes in European Americans, 191 in Ugandans, 35 in Papuans, 95 in Egyptians and 86 in Spanish populations. For another 35 populations, encompassing 642,105 individuals we focused on KIR3DL2 and identified another 375 novel alleles, with approximately half of them observed in more than one individual. The KIR allelic level data gathered from this project represents the most comprehensive summary of global KIR allelic diversity to date, and continued analysis will improve understanding of KIR allelic polymorphism in global populations. Further, the wealth of new data gathered in the course of this workshop component highlights the value of collaborative, community-based efforts in immunogenetics research, exemplified by the IHIW.
摘要：
第17届国际HLA和免疫遗传学研讨会（IHIW）的KIR组件的目标是鼓励和教育研究人员开始以等位基因分辨率分析KIR，并调查人群中KIR等位基因多样性的性质和程度。为了代表全球多样性，我们分析了来自10个群体的1269个人，专注于最多态的KIR基因，其表达具有三个免疫球蛋白(Ig)样结构域(KIR3DL1/S1、KIR3DL2和KIR3DL3)的受体。我们鉴定了KIR3DL1/S1的13个新等位基因，KIR3DL2的13个新等位基因和KIR3DL3的18个新等位基因。以前鉴定的等位基因，对应于KIR3DL1/S1的33个等位基因，KIR3DL2的38个和KIR3DL3的43个等位基因，代表了这些基因的90％以上的观察到的等位基因频率。我们总共观察到37个KIR3DL1/S1同种异型，KIR3DL2为40，KIR3DL3为44。由于KIR同种异型多样性可以影响NK细胞的功能，这证明了全球高功能多样性的潜力。等位基因变异进一步使KIR单倍型多样化。我们从五个研究人群中确定了KIR3DL3~KIR3DL1/S1~KIR3DL2单倍型，并在每个中观察到多个群体特异性单倍型。这包括234个不同的欧洲裔美国人单倍型，191名乌干达人，35在巴布亚人，埃及人95人，西班牙人口86人。对于另外35个人口，涵盖了642105个个体，我们专注于KIR3DL2，并鉴定了另外375个新等位基因，其中大约一半在一个以上的个体中观察到。从该项目收集的KIR等位基因水平数据代表了迄今为止全球KIR等位基因多样性的最全面总结，继续分析将提高对全球人群KIR等位基因多态性的理解。Further,在这个研讨会部分收集的大量新数据突出了协作的价值，基于社区的免疫遗传学研究努力，以IHIW为例。
