High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing.

Autor: Montero-Martín G; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA. Electronic address: gmonter2@stanford.edu., Mallempati KC; Stanford Blood Center, Stanford University School of Medicine, Palo Alto, CA, USA., Gangavarapu S; Stanford Blood Center, Stanford University School of Medicine, Palo Alto, CA, USA., Sánchez-Gordo F; Histocompatibility, Centro de Transfusión de Málaga, Málaga, Spain., Herrero-Mata MJ; Histocompatibility and Immunogenetics, Banc de Sang i Teixits, Barcelona, Spain., Balas A; Histocompatibility, Centro de Transfusión de la Comunidad de Madrid, Madrid, Spain., Vicario JL; Histocompatibility, Centro de Transfusión de la Comunidad de Madrid, Madrid, Spain., Sánchez-García F; Immunology, Hospital Universitario de Gran Canaria Dr Negrín, Las Palmas de Gran Canaria, Spain., González-Escribano MF; Immunology, Hospital Universitario Virgen del Rocío, Sevilla, Spain., Muro M; Immunology, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain., Moya-Quiles MR; Immunology, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain., González-Fernández R; Immunology, Hospital Universitario Reina Sofía, Córdoba, Spain., Ocejo-Vinyals JG; Immunology, Hospital Universitario Marqués de Valdecilla, Santander, Spain., Marín L; Molecular Biology-Hematology, Hospital Clínico Universitario, Salamanca, Spain., Creary LE; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA., Osoegawa K; Stanford Blood Center, Stanford University School of Medicine, Palo Alto, CA, USA., Vayntrub T; Stanford Blood Center, Stanford University School of Medicine, Palo Alto, CA, USA., Caro-Oleas JL; Histocompatibility and Immunogenetics, Banc de Sang i Teixits, Barcelona, Spain., Vilches C; Immunogenetics and Histocompatibility, Instituto de Investigación Sanitaria Puerta de Hierro, Madrid, Spain., Planelles D; Histocompatibility, Centro de Transfusión de la Comunidad Valenciana, Valencia, Spain., Fernández-Viña MA; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
Jazyk: angličtina
Zdroj: Human immunology [Hum Immunol] 2019 Jul; Vol. 80 (7), pp. 429-436. Date of Electronic Publication: 2019 Feb 11.
DOI: 10.1016/j.humimm.2019.02.005
Abstrakt: Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequencing of class I loci and extended coverage of class II loci were obtained to determine allele frequencies and also to estimate extended haplotype frequencies. HLA alleles were typed at the highest resolution level (4-field level, 4FL); with exception of a minor deviation in HLA-DPA1, no statistically significant deviations from expected Hardy Weinberg Equilibrium (HWE) proportions were observed for all other HLA loci. This study provides new 4FL-allele and -haplotype frequencies estimated for the first time in the Spanish population. Furthermore, our results describe extended haplotypes (including the less frequently typed HLA-DPA1 and HLA-DQA1 loci) and show distinctive haplotype associations found at 4FL-allele definition in this Spanish population study. The distinctive allelic and haplotypic diversity found at the 4FL reveals the high level of heterozygosity and specific haplotypic associations displayed that were not apparent at 2-field level (2FL). Overall, these results may contribute as a useful reference source for future population studies, for HLA-disease association studies as a healthy control group dataset and for improving donor recruitment strategies of bone marrow registries. HLA genotyping data of this Spanish population cohort was also included in the 17th International Histocompatibility and Immunogenetics Workshop (IHIW) as part of the study of HLA diversity in unrelated worldwide populations using NGS.
(Copyright © 2019 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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