Print Email Facebook Twitter Population matched (pm) germline allelic variants of immunoglobulin (IG) loci Title Population matched (pm) germline allelic variants of immunoglobulin (IG) loci: Relevance in infectious diseases and vaccination studies in human populations Author Khatri, I. (Leiden University Medical Center) Berkowska, Magdalena A. (Leiden University Medical Center) van den Akker, E.B. (TU Delft Pattern Recognition and Bioinformatics; Leiden University Medical Center) Teodosio, Cristina (Leiden University Medical Center) Reinders, M.J.T. (TU Delft Pattern Recognition and Bioinformatics; Leiden University Medical Center) van Dongen, Jacques J. M. (Leiden University Medical Center) Date 2021 Abstract 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. To reference this document use: http://resolver.tudelft.nl/uuid:0a9c2f8f-d1f5-4623-b0ec-166c6b426cd4 DOI https://doi.org/10.1038/s41435-021-00143-7 ISSN 1466-4879 Source Genes and Immunity, 22 (3), 172-186 Part of collection Institutional Repository Document type journal article Rights © 2021 I. Khatri, Magdalena A. Berkowska, E.B. van den Akker, Cristina Teodosio, M.J.T. Reinders, Jacques J. M. van Dongen Files PDF s41435_021_00143_7.pdf 2.16 MB Close viewer /islandora/object/uuid:0a9c2f8f-d1f5-4623-b0ec-166c6b426cd4/datastream/OBJ/view