title: HLA-A-B-C-DRB1-DQB1 phased haplotypes in 124 Nigerian families indicate extreme HLA diversity and low linkage disequilibrium in Central-West Africa.
abstract: The simultaneous typing of five-HLA loci at high resolution and the availability of pedigree data allowed us to characterize extended five-locus phased haplotypes in 124 Nigerian families and to compare the observed frequencies with those expected by an expectation-maximization algorithm for unphased data. Despite the occurrence of some frequent alleles at each locus (e.g. B*53:01, which is assumed to protect against Plasmodium falciparum), as many as 82% of the sampled individuals carry two unique five-locus haplotypes and only three extended haplotypes with frequency above 1% exhibit significant linkage disequilibrium. Although preliminary, these results reveal an extreme level of HLA diversity in the Nigerian population, which reflects both its multi-ethnic composition and the very ancient demographic history of African populations.
authors: Laboratory of Immunogenetics and Transplant Biology, IME Foundation, Policlinic of the University of Tor Vergata, Rome, Italy.
authors: M
authors: M
authors: Testi
authors: Laboratory of Immunogenetics and Transplant Biology, IME Foundation, Policlinic of the University of Tor Vergata, Rome, Italy.
authors: M
authors: M
authors: Battarra
authors: International Center for Transplantation in Thalassemia and Sickle Cell Anemia, IME Foundation, Policlinic of the University of Tor Vergata, Rome, Italy.
authors: G
authors: G
authors: Lucarelli
authors: International Center for Transplantation in Thalassemia and Sickle Cell Anemia, IME Foundation, Policlinic of the University of Tor Vergata, Rome, Italy.
authors: A
authors: A
authors: Isgro
authors: International Center for Transplantation in Thalassemia and Sickle Cell Anemia, IME Foundation, Policlinic of the University of Tor Vergata, Rome, Italy.
authors: A
authors: A
authors: Morrone
authors: Sickle Cell Foundation Nigeria, Lagos, Nigeria.
authors: O
authors: O
authors: Akinyanju
authors: National Hospital, Abuja, Nigeria.
authors: T
authors: T
authors: Wakama
authors: Laboratory of Anthropology, Genetics and Peopling History, Department of Genetics and Evolution-Anthropology Unit, University of Geneva, Geneva, Switzerland.
authors: J M
authors: JM
authors: Nunes
authors: Laboratory of Immunogenetics and Transplant Biology, IME Foundation, Policlinic of the University of Tor Vergata, Rome, Italy.
authors: M
authors: M
authors: Andreani
authors: Laboratory of Anthropology, Genetics and Peopling History, Department of Genetics and Evolution-Anthropology Unit, University of Geneva, Geneva, Switzerland.
authors: A
authors: A
authors: Sanchez-Mazas
mesh_terms: D000483:Alleles; D005190:Family; D015870:Gene Expression; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D015234:HLA-A Antigens / Q000235:genetics* / Q000276:immunology; D015235:HLA-B Antigens / Q000235:genetics* / Q000276:immunology; D015236:HLA-C Antigens / Q000235:genetics* / Q000276:immunology; D059866:HLA-DQ beta-Chains / Q000235:genetics* / Q000276:immunology; D059811:HLA-DRB1 Chains / Q000235:genetics* / Q000276:immunology; D006239:Haplotypes; D006650:Histocompatibility Testing; D006801:Humans; D015810:Linkage Disequilibrium; D009549:Nigeria; D010375:Pedigree
chemical_list: D015234:HLA-A Antigens; D015235:HLA-B Antigens; D015236:HLA-C Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D059811:HLA-DRB1 Chains
keywords: African peopling history; HLA haplotypes; Nigerian population; anthropology; family data; linkage disequilibrium; malaria resistance; population genetics