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Peer-reviewedCC BYFrontiers in genetics

High-resolution HLA genetic diversity in a Northeastern Mexican clinical cohort

  1. 1Servicio de Hematología, Hospital Universitario “Dr. José Eleuterio González”, Universidad Autónoma de Nuevo León , ,

Abstract

The human leukocyte antigen (HLA) region is the most polymorphic region of the human genome. Its allelic and haplotypic diversity varies markedly among populations, making it central to histocompatibility, transplantation, and population genetics. High-resolution data for northeastern Mexico remain scarce. We characterized HLA-A, -B, -C, and -DRB1 in a cohort of 606 unrelated individuals referred for histocompatibility testing between 2019 and 2024, using sequencing-based typing (SBT-Sanger) and next-generation sequencing (NGS) at two-field resolution. Allele and haplotype frequencies, Hardy-Weinberg equilibrium (HWE), the inbreeding coefficient (F IS), and linkage disequilibrium (LD) were analyzed using Arlequin v3.5.2.2 and R v4.5.2. HLA-A, -B, and -DRB1 conformed to HWE, whereas HLA-C showed a modest but significant deviation (p = 0.038). F IS was close to zero at every locus (global F IS = 0.00886), indicating no meaningful inbreeding. LD was significant for all locus pairs and strongest between HLA-B and HLA-C, with D' approaching ±1 for many allelic combinations. HLA-A*03:01-B*07:02-C*07:02-DRB1*15:01 was one of the two most frequent haplotypes (1.24%). Pairwise fixation index (FST) analysis showed the lowest differentiation from admixed populations across the Americas and the greatest from Indigenous populations, most notably the Colombian North Chimila Amerindian population. These findings enhance the immunogenetic characterization of northeastern Mexico and provide a high-resolution regional reference for HLA diversity, with potential relevance to histocompatibility research.

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BibTeX
@article{ayalaverdugo2026highresolution,
  title = {{High-resolution HLA genetic diversity in a Northeastern Mexican clinical cohort}},
  author = {Jesús Antonio Ayala-Verdugo and José Carlos Jaime-Pérez and Sandra Iveth Mendoza-Ibarra and Carlos Octavio Cancela-Murrieta and Alondra Jetzany García-Valdez and Jorge Solis-Estrada and Rosario Salazar-Riojas and Andrés Gómez-De León and Perla Rocío Colunga-Pedraza and Olga Cantú-Rodríguez and David Gómez-Almaguer and Nidia Karina Moncada-Saucedo},
  journal = {Frontiers in genetics},
  year = {2026},
  month = oct,
  doi = {10.3389/fgene.2026.1960786},
  url = {https://europepmc.org/article/PMC/PMC13727317},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - High-resolution HLA genetic diversity in a Northeastern Mexican clinical cohort
AU  - Jesús Antonio Ayala-Verdugo
AU  - José Carlos Jaime-Pérez
AU  - Sandra Iveth Mendoza-Ibarra
AU  - Carlos Octavio Cancela-Murrieta
AU  - Alondra Jetzany García-Valdez
AU  - Jorge Solis-Estrada
AU  - Rosario Salazar-Riojas
AU  - Andrés Gómez-De León
AU  - Perla Rocío Colunga-Pedraza
AU  - Olga Cantú-Rodríguez
AU  - David Gómez-Almaguer
AU  - Nidia Karina Moncada-Saucedo
PY  - 2026
DA  - 2026/10/20
JO  - Frontiers in genetics
DO  - 10.3389/fgene.2026.1960786
UR  - https://europepmc.org/article/PMC/PMC13727317
AB  - The human leukocyte antigen (HLA) region is the most polymorphic region of the human genome. Its allelic and haplotypic diversity varies markedly among populations, making it central to histocompatibility, transplantation, and population genetics. High-resolution data for northeastern Mexico remain scarce. We characterized HLA-A, -B, -C, and -DRB1 in a cohort of 606 unrelated individuals referred for histocompatibility testing between 2019 and 2024, using sequencing-based typing (SBT-Sanger) and next-generation sequencing (NGS) at two-field resolution. Allele and haplotype frequencies, Hardy-Weinberg equilibrium (HWE), the inbreeding coefficient (F IS), and linkage disequilibrium (LD) were analyzed using Arlequin v3.5.2.2 and R v4.5.2. HLA-A, -B, and -DRB1 conformed to HWE, whereas HLA-C showed a modest but significant deviation (p = 0.038). F IS was close to zero at every locus (global F IS = 0.00886), indicating no meaningful inbreeding. LD was significant for all locus pairs and strongest between HLA-B and HLA-C, with D' approaching ±1 for many allelic combinations. HLA-A*03:01-B*07:02-C*07:02-DRB1*15:01 was one of the two most frequent haplotypes (1.24%). Pairwise fixation index (FST) analysis showed the lowest differentiation from admixed populations across the Americas and the greatest from Indigenous populations, most notably the Colombian North Chimila Amerindian population. These findings enhance the immunogenetic characterization of northeastern Mexico and provide a high-resolution regional reference for HLA diversity, with potential relevance to histocompatibility research.
SN  - 1664-8021
ER  -