title: Mapping the HLA diversity of the Iberian Peninsula.
abstract: The polymorphism of HLA genes can be used to reconstruct human peopling history. However, this huge diversity impairs successful matching in stem cell transplantation, a situation which has led to the recruitment of millions of donors worldwide. In parallel to the increase of recruitment, registries are progressively relying on information from population genetics to optimize their donor pools in terms of HLA variability. In this study, the HLA data of 65,000 Spanish bone marrow donors were analyzed together with 60,000 Portuguese individuals to provide a comprehensive HLA genetic map of the Iberian Peninsula. The frequencies of many alleles were shown to vary continuously across the Peninsula, either increasing or decreasing from the Mediterranean coast to the Atlantic domain or from the Strait of Gibraltar to the Pyrenees and Bay of Biscay. Similar patterns were observed for several haplotypes. In addition, within some regions neighboring provinces share a close genetic similarity. These results outline the genetic landscape of the Iberian Peninsula, and confirm that the analysis of the HLA polymorphism may reveal relevant signatures of past demographic events even when data from donor registries are used. This conclusion stimulates future developments of the Spanish registry, presented here for the first time.
authors.affiliation: Histocompatibility Laboratory, Hematology and Transfusion Service, Hospital Universitario Marqués de Valdecilla - IFIMAV, Santander, Spain. Electronic address: iromon@humv.es.
authors.forename: Iñigo
authors.initials: I
authors.lastname: Romòn
authors.affiliation: Histocompatibility Laboratory, Hematology and Transfusion Service, Hospital Universitario Marqués de Valdecilla - IFIMAV, Santander, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Montes
authors.affiliation: Lisbon Center for Blood and Transplantation, Instituto Português de Sangue e Transplantação, IP, Lisbon, Portugal.
authors.forename: Dario
authors.initials: D
authors.lastname: Ligeiro
authors.affiliation: Lisbon Center for Blood and Transplantation, Instituto Português de Sangue e Transplantação, IP, Lisbon, Portugal.
authors.forename: Hélder
authors.initials: H
authors.lastname: Trindade
authors.affiliation: Laboratory of Anthropology, Genetics and Peopling history (AGP), Department of Genetics and Evolution - Anthropology Unit, University of Geneva, Switzerland; Institute of Genetics and Genomics in Geneva (IGE3), Switzerland.
authors.forename: Alicia
authors.initials: A
authors.lastname: Sanchez-Mazas
authors.affiliation: Laboratory of Anthropology, Genetics and Peopling history (AGP), Department of Genetics and Evolution - Anthropology Unit, University of Geneva, Switzerland; Institute of Genetics and Genomics in Geneva (IGE3), Switzerland.
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Nunes
authors.affiliation: Laboratory of Anthropology, Genetics and Peopling history (AGP), Department of Genetics and Evolution - Anthropology Unit, University of Geneva, Switzerland; Transplantation Immunology Unit and National Reference Laboratory for Histocompatibility (UIT/LNRH), Department of Genetic and Laboratory Medicine, Geneva University Hospitals, Switzerland. Electronic address: stephane.buhler@unige.ch.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Buhler
mesh_terms: D005787:Gene Frequency; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D018380:Hematopoietic Stem Cell Transplantation; D006650:Histocompatibility Testing; D006801:Humans; D011110:Polymorphism, Genetic; D012042:Registries; D013030:Spain; D014019:Tissue Donors
chemical_list: D006680:HLA Antigens
keywords: Bone marrow donors; Frequencies; HLA; Haplotypes; Human genetic diversity; Iberian Peninsula; Linkage disequilibrium; Portugal; Registry; Spain