Immunoglobulin (IG) loci harbor inter-individual allelic variants in many different germline IG variable, diversity and joining genes of the IG heavy (IGH), kappa (IGK) and lambda (IGL) loci, which together form the genetic basis of the highly diverse antigen-specific B-cell receptors. These allelic variants can be shared between or be specific to human populations. The current immunogenetics resources gather the germline alleles, however, lack the population specificity of the alleles which poses limitations for disease-association studies related to immune responses in different human populations. Therefore, we systematically identified germline alleles from 26 different human populations around the world, profiled by “1000 Genomes” data. We identified 409 IGHV, 179 IGKV, and 199 IGLV germline alleles supported by at least seven haplotypes. The diversity of germline alleles is the highest in Africans. Remarkably, the variants in the identified novel alleles show strikingly conserved patterns, the same as found in other IG databases, suggesting over-time evolutionary selection processes. We could relate the genetic variants to population-specific immune responses, e.g. IGHV1-69 for flu in Africans. The population matched IG (pmIG) resource will enhance our understanding of the SHM-related B-cell receptor selection processes in (infectious) diseases and vaccination within and between different human populations.

免疫球蛋白 ( IG ) 基因座在许多不同的种系IG变量、多样性和IG重链 ( IGH )、kappa ( IGK ) 和 lambda ( IGL ) 的连接基因中存在个体间等位基因变异) 基因座，它们共同构成了高度多样化的抗原特异性 B 细胞受体的遗传基础。这些等位基因变异可以在人群之间共享或特定于人群。目前的免疫遗传学资源收集种系等位基因，然而，缺乏等位基因的种群特异性，这对与不同人群免疫反应相关的疾病关联研究造成了限制。因此，我们系统地鉴定了来自世界各地 26 个不同人群的种系等位基因，并根据“1000 基因组”数据进行了分析。我们确定了 409个IGHV、179个 IGKV和 199 个IGLV由至少七种单倍型支持的种系等位基因。种系等位基因的多样性在非洲人中最高。值得注意的是，已识别的新等位基因中的变异显示出惊人的保守模式，与其他IG数据库中发现的相同，表明随着时间的推移进化选择过程。我们可以将遗传变异与人群特异性免疫反应联系起来，例如非洲人流感的IGHV1-69。人口匹配IG (pmIG) 资源将增强我们对（传染病）疾病和疫苗接种中不同人群内部和之间的 SHM 相关 B 细胞受体选择过程的理解。