Analysis of the frequencies of HLA-A, B, and C alleles and haplotypes in the five major ethnic groups of the United States reveals high levels of diversity in these loci and contrasting distribution patterns in these populations

Cao, Kai; Hollenbach, Jill A.; Shi, Xuejiang; Shi, Wei; Chopek, M.; Fernández-Viña, Marcelo

doi:10.1016/s0198-8859(01)00298-1

Cited by 411 publications

(469 citation statements)

References 33 publications

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“…Los alelos más frecuentes fueron el A*02 (22,5 %) y el A*24 (20,2 %), lo cual coincide con los datos reportados en otros estudios en Colombia, en Latinoamérica y en la población hispana en general, los cuales evidencian que estos dos alelos aparecen con una frecuencia superior al 40 % (11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25).…”

Section: Discussionunclassified

“…Tal como ha sucedido en estudios anteriores en la población colombiana (10,21), no se detectó el alelo A*43, el cual solo se ha encontrado, con poca frecuencia, en un estudio en la población de Medellín (11). El alelo menos frecuente fue el A*80 (0,02 %), información ya registrada en otros estudios de varias poblaciones en Colombia (11,14,25).…”

Section: Discussionunclassified

“…En el locus B fue posible detectar 43 alelos, de los cuales el 40 % se presentó con frecuencias inferiores a 1 %. Solo el B*35 tuvo una frecuencia superior a 20 %, es decir, fue el más representativo, tal como se ha registrado para la población colombiana y latinoamericana en otros estudios (11)(12)(13)(14)(15)(16)(17)(18)(19).…”

Section: Discussionunclassified

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Determination of HLA -A, -B, -DRB1 polymorphism in brain dead organ donors representative of the Colombian general population, 2007-2014

et al. 2017

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Introducción. Los genes que codifican para el sistema de antígenos leucocitarios humanos (HLA) son altamente polimórficos y tiene alta importancia en procedimientos de trasplante de órganos. La determinación de frecuencias alélicas en poblaciones definidas se tiene en cuenta en la designación de criterios científicos para la asignación de órganos.Objetivo. Establecer las frecuencias antigénicas y haplotípicas de HLA -A, -B, y -DRB1 en donantes de órganos en muerte encefálica, representativos de población colombiana.Materiales y métodos. Estudio descriptivo retrospectivo que incluyó 2.506 donantes cadavéricos de órganos en el que se realizó un análisis alélico y haplotípico de HLA- A, HLA-B, HLA-DRB1, así como la determinación del desequilibrio de Hardy Weinberg.Resultados. Se identificaron 21, 43 y 15 grupos alélicos para los locus A*, B* y DRB1*, respectivamente. Fue posible la identificación de 1.268 haplotipos HLA A-HLA B-HLA DR; 409 haplotipos HLA A, B; 383 haplotipos HLA B, DR y 218 haplotipos HLA A, DR. Los tres locus se encontraron en equilibrio de Hardy-Weinberg al encontrar valores de p<0,05 entre el número de heterocigóticos observados en relación al número de heterocigóticos esperados.Conclusiones. Este estudio por primera vez proporciona información sobre la distribución de los alelos HLA clase I y II en población de donantes de órganos, con representación de individuos de las seis regionales en las que está dividida estructuralmente Colombia para la prestación de servicios de trasplante.

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Section: Discussionunclassified

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Determination of HLA -A, -B, -DRB1 polymorphism in brain dead organ donors representative of the Colombian general population, 2007-2014

et al. 2017

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“…We also studied subjects selfidentified as Native Americans from the USA [21,23]. In all populations, the number of allelic lineages was significantly reduced when compared with other populations.…”

Section: Hla Studies In Native American Populationsmentioning

confidence: 99%

Tracking human migrations by the analysis of the distribution of HLA alleles, lineages and haplotypes in closed and open populations

Viña

Hollenbach²,

Lyke

et al. 2012

Phil. Trans. R. Soc. B

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The human leucocyte antigen (HLA) system shows extensive variation in the number and function of loci and the number of alleles present at any one locus. Allele distribution has been analysed in many populations through the course of several decades, and the implementation of molecular typing has significantly increased the level of diversity revealing that many serotypes have multiple functional variants. While the degree of diversity in many populations is equivalent and may result from functional polymorphism(s) in peptide presentation, homogeneous and heterogeneous populations present contrasting numbers of alleles and lineages at the loci with high-density expression products. In spite of these differences, the homozygosity levels are comparable in almost all of them. The balanced distribution of HLA alleles is consistent with overdominant selection. The genetic distances between outbred populations correlate with their geographical locations; the formal genetic distance measurements are larger than expected between inbred populations in the same region. The latter present many unique alleles grouped in a few lineages consistent with limited founder polymorphism in which any novel allele may have been positively selected to enlarge the communal peptide-binding repertoire of a given population. On the other hand, it has been observed that some alleles are found in multiple populations with distinctive haplotypic associations suggesting that convergent evolution events may have taken place as well. It appears that the HLA system has been under strong selection, probably owing to its fundamental role in varying immune responses.

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“…The CD8 ϩ T cells described in this work expressed significant, but moderate, effector functions, as assessed by both IFN-␥ production and target cell cytolysis, and thus it is reasonable to speculate that successful activation of these cells would have an antitumor effect against tumor cells that express class I. Finally, the CD8 ϩ T cells identified in this work are restricted by the HLA-Cw*14 allele that is expressed in a low frequency of individuals (roughly 2-8% of individuals in the U.S.) (37). Nonetheless, it is reasonable to suspect that additional SOX-4-specific CD8 ϩ T cells, restricted by more common HLA class I alleles and with similar effector phenotypes to the T cells described in this report, exist in PBMC of lung cancer patients.…”

Section: Discussionmentioning

confidence: 70%

Molecular and Immunological Evaluation of the Transcription Factor SOX-4 as a Lung Tumor Vaccine Antigen

Friedman

Bangur

Zasloff

et al. 2004

The Journal of Immunology

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The developmental transcription factor SOX-4 has been shown to be highly and differentially overexpressed in primary small cell lung carcinomas (SCLC). To examine the potential of SOX-4 for broad use as a lung cancer vaccine, we have evaluated the expression of SOX-4 in a panel of primary adenocarcinoma, squamous, and large cell tumor samples as well as in a panel of established small cell and non-small cell lung carcinoma tumor cell lines. SOX-4 mRNA is shown to be overexpressed in a substantial fraction of each of these lung tumor types. To examine the immunological potential of SOX-4, we have evaluated the presence of SOX-4-specific CD4 and CD8 T cells in PBMC of healthy donors and the presence of SOX4-specific Abs in sera from SCLC patients. We demonstrate the presence of both CD4 and CD8 T cells that recognize naturally processed epitopes derived from SOX-4 as well as the presence of SOX-4-specific Abs in sera from SCLC patients, but not in sera from healthy donors. The lung tumor-specific overexpression and demonstration of a comprehensive Ag-specific immune response specific for SOX-4 support the use of this molecule in the development of whole gene-, peptide-, or protein-based vaccination strategies against lung cancer. Furthermore, the identification of naturally processed T cell and Ab epitopes from SOX-4 provides valuable tools for the development of peptide-based vaccination strategies against lung cancer as well as to monitor SOX-4-specific responses in vaccinated patients.

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Analysis of the frequencies of HLA-A, B, and C alleles and haplotypes in the five major ethnic groups of the United States reveals high levels of diversity in these loci and contrasting distribution patterns in these populations

Cited by 411 publications

References 33 publications

Determination of HLA -A, -B, -DRB1 polymorphism in brain dead organ donors representative of the Colombian general population, 2007-2014

Determination of HLA -A, -B, -DRB1 polymorphism in brain dead organ donors representative of the Colombian general population, 2007-2014

Tracking human migrations by the analysis of the distribution of HLA alleles, lineages and haplotypes in closed and open populations

Molecular and Immunological Evaluation of the Transcription Factor SOX-4 as a Lung Tumor Vaccine Antigen

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