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Article: An HLA map of the world: A comparison of HLA frequencies in 200 worldwide populations reveals diverse patterns for class I and class II.

Arrieta-Bolaños, Esteban / Hernández-Zaragoza, Diana Iraíz / Barquera, Rodrigo

2023 Volume 14, Page(s) 866407

Abstract: HLA frequencies show widespread variation across human populations. Demographic factors as well as selection are thought to have shaped HLA variation across continents. In this study, a worldwide comparison of HLA class I and class II diversity was ... ...

Abstract	HLA frequencies show widespread variation across human populations. Demographic factors as well as selection are thought to have shaped HLA variation across continents. In this study, a worldwide comparison of HLA class I and class II diversity was carried out. Multidimensional scaling techniques were applied to 50
Language	English
Publishing date	2023-03-23
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2023.866407
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Article ; Online: An ancient view on host pathogen interaction across time and space.

Barquera, Rodrigo / Krause, Johannes

Current opinion in immunology

2020 Volume 65, Page(s) 65–69

Abstract: The ancient DNA revolution provided diverse fields with an unprecedented opportunity to look back into the past and shed light on research aspects that were until now subject to speculation and inference from modern data. In particular enrichment methods ...

Abstract	The ancient DNA revolution provided diverse fields with an unprecedented opportunity to look back into the past and shed light on research aspects that were until now subject to speculation and inference from modern data. In particular enrichment methods that allow the targeted retrieval of millions of SNP positions from ancient human genomes, or even complete bacterial and viral genomes have the potential to revolutionize our understanding of host pathogen interactions. Ancient DNA combined with new bioinformatic tools now even allows actual allele calling for immunogenetic systems such as Human Leukocyte Antigen (HLA) across time and space. The coming years will provide us with frequency data of human immunity genes, such as HLA, as well as genome wide data of ancient pathogens from many time periods of human history, and will therefore provide us with a dynamic view on historical human adaptation to pathogen exposure on a population wide scale.
MeSH term(s)	HLA Antigens/genetics ; HLA Antigens/immunology ; Host-Pathogen Interactions/genetics ; Host-Pathogen Interactions/immunology ; Humans
Chemical Substances	HLA Antigens
Language	English
Publishing date	2020-06-27
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1035767-1
ISSN	1879-0372 ; 0952-7915
ISSN (online)	1879-0372
ISSN	0952-7915
DOI	10.1016/j.coi.2020.05.004
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Zs.A 2773: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article: Takayasu's Arteritis in Mexican Monozygotic Twins: Analysis of Human Leukocyte Antigens (HLA) Haplotypes.

Hinojosa, Carlos A / Anaya-Ayala, Javier E / Laparra-Escareno, Hugo / Mena-Hernandez, Lourdes / Barquera, Rodrigo / Martínez-Quesada, Jose I / Granados, Julio

Annals of vascular diseases

2023 Volume 16, Issue 1, Page(s) 73–76

Abstract: Takayasu's arteritis (TA) is an idiopathic great vessel vasculitis that affects the aorta and its branches. This entity is associated with the major histocompatibility complex (MHC) genes. We studied DNA sequences of human leukocyte antigens (HLA) ... ...

Abstract	Takayasu's arteritis (TA) is an idiopathic great vessel vasculitis that affects the aorta and its branches. This entity is associated with the major histocompatibility complex (MHC) genes. We studied DNA sequences of human leukocyte antigens (HLA) haplotypes in one pair of Mexican monozygotic twins affected by TA. HLA alleles were determined by sequence-specific priming. Genetic testing of the HLA haplotypes in both sisters were A02 B39 DRB104 DQB103 : 02/A24 B35 DRB116 DQB103 : 01. These results confirm that within the MHC are genes that determine genetic susceptibility to develop TA and sustain genetic heterogeneity of this disease among populations.
Language	English
Publishing date	2023-03-31
Publishing country	Japan
Document type	Journal Article
ZDB-ID	2394256-3
ISSN	1881-6428 ; 1881-641X
ISSN (online)	1881-6428
ISSN	1881-641X
DOI	10.3400/avd.cr.22-00094
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Article ; Online: Differential admixture, human leukocyte antigen diversity, and hematopoietic cell transplantation in Latin America: challenges and opportunities.

Arrieta-Bolaños, Esteban / Oliveira, Danielli Cristina / Barquera, Rodrigo

Bone marrow transplantation

2019 Volume 55, Issue 3, Page(s) 496–504

MeSH term(s)	HLA Antigens ; Hematopoietic Stem Cell Transplantation ; Humans ; Latin America
Chemical Substances	HLA Antigens
Language	English
Publishing date	2019-11-06
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	632854-4
ISSN	1476-5365 ; 0268-3369 ; 0951-3078
ISSN (online)	1476-5365
ISSN	0268-3369 ; 0951-3078
DOI	10.1038/s41409-019-0737-4
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Article ; Online: On Roth's "human fossil" from Baradero, Buenos Aires Province, Argentina: morphological and genetic analysis.

Menéndez, Lumila Paula / Barbieri, Chiara / López Cruz, Idalia Guadalupe / Schmelzle, Thomas / Breidenstein, Abagail / Barquera, Rodrigo / Borzi, Guido / Schuenemann, Verena J / Sánchez-Villagra, Marcelo R

Swiss journal of palaeontology

2023 Volume 142, Issue 1, Page(s) 26

Abstract: The "human fossil" from Baradero, Buenos Aires Province, Argentina, is a collection of skeleton parts first recovered by the paleontologist Santiago Roth and further studied by the anthropologist Rudolf Martin. By the end of the nineteenth century and ... ...

Abstract	The "human fossil" from Baradero, Buenos Aires Province, Argentina, is a collection of skeleton parts first recovered by the paleontologist Santiago Roth and further studied by the anthropologist Rudolf Martin. By the end of the nineteenth century and beginning of the twentieth century it was considered one of the oldest human skeletons from South America's southern cone. Here, we present the results of an interdisciplinary approach to study and contextualize the ancient individual remains. We discuss the context of the finding by first compiling the available evidence associated with the historical information and any previous scientific publications on this individual. Then, we conducted an osteobiographical assessment, by which we evaluated the sex, age, and overall preservation of the skeleton based on morphological features. To obtain a 3D virtual reconstruction of the skull, we performed high resolution CT-scans on selected skull fragments and the mandible. This was followed by the extraction of bone tissue and tooth samples for radiocarbon and genetic analyses, which brought only limited results due to poor preservation and possible contamination. We estimate that the individual from Baradero is a middle-aged adult male. We conclude that the revision of foundational collections with current methodological tools brings new insights and clarifies long held assumptions on the significance of samples that were recovered when archaeology was not yet professionalized.
Language	English
Publishing date	2023-10-04
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2587027-0
ISSN	1664-2384 ; 1664-2376 ; 0080-7389
ISSN (online)	1664-2384
ISSN	1664-2376 ; 0080-7389
DOI	10.1186/s13358-023-00293-3
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Article ; Online: Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans.

Alonso-Luna, Oscar / Mercado-Celis, Gabriela E / Melendez-Zajgla, Jorge / Barquera, Rodrigo / Zapata-Tarres, Marta / Juárez-Villegas, Luis Enrique / Mendoza-Caamal, Elvia Cristina / Rey-Helo, Elianeth / Borges-Yañez, Socorro Aida

Molecular genetics & genomic medicine

2023 Volume 12, Issue 1, Page(s) e2332

Abstract: Background: Childhood cancer is one of the primary causes of disease-related death in 5- to 14-year-old children and currently no prevention strategies exist to reduce the incidence of this disease. Childhood cancer has a larger hereditary component ... ...

Abstract	Background: Childhood cancer is one of the primary causes of disease-related death in 5- to 14-year-old children and currently no prevention strategies exist to reduce the incidence of this disease. Childhood cancer has a larger hereditary component compared with cancer in adults. Few genetic studies have been conducted on children with cancer. Additionally, Latin American populations are underrepresented in genomic studies compared with other populations. Therefore, the aim of this study is to analyze germline mutations in a group of mixed-ancestry Mexican pediatric patients with solid and hematological cancers. Methods: We analyzed genetic variants from 40 Mexican childhood cancer patients and their relatives. DNA from saliva or blood samples was used for whole-exome sequencing. All variants were identified following GATK best practices. Results: We found that six patients (15%) were carriers of germline mutations in CDKN2A, CHEK2, DICER1, FANCA, MSH6, MUTYH, NF1, and SBDS cancer predisposition genes, and additional new variants predicted to be deleterious by in silico algorithms. A population genetics analysis detected five components consistent with the demographic models assumed for modern mixed-ancestry Mexicans. Conclusions: This report identifies potential genetic risk factors and provides a better understanding of the underlying mechanisms of childhood cancer in this population.
MeSH term(s)	Adult ; Humans ; Child ; Child, Preschool ; Adolescent ; Germ-Line Mutation ; Genetic Predisposition to Disease ; Neoplasms/genetics ; Exome Sequencing ; Ribonuclease III ; DEAD-box RNA Helicases ; North American People
Chemical Substances	DICER1 protein, human (EC 3.1.26.3) ; Ribonuclease III (EC 3.1.26.3) ; DEAD-box RNA Helicases (EC 3.6.4.13)
Language	English
Publishing date	2023-12-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	2734884-2
ISSN	2324-9269 ; 2324-9269
ISSN (online)	2324-9269
ISSN	2324-9269
DOI	10.1002/mgg3.2332
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Article: El papel de la genética de poblaciones en la inmunología del trasplante en México.

Barquera Lozano, Rodrigo

Gaceta medica de Mexico

2012 Volume 148, Issue 1, Page(s) 52–67

Abstract: This review focuses on six transcendental aspects that affect transplant immunology in Mexico: in first place, several immune factors which may lead to graft loss are highlighted; then, some features of the biological variability present in Mexican ... ...

Title translation	The role of population genetics of Mexico in transplant immunology.
Abstract	This review focuses on six transcendental aspects that affect transplant immunology in Mexico: in first place, several immune factors which may lead to graft loss are highlighted; then, some features of the biological variability present in Mexican populations are pointed out in the context of their adaptive and sociopolitical history, leading to the discussion on the genetic diversity within the major histocompatibility complex (MHC) and the importance of resolution in genotypic characterization of the human leukocyte antigen (HLA) and related systems on the basis of human intra-population variability. Critical points on the interpretation of serological reactivity of anti-HLA antibodies are discussed in function of allelic frequency as a probability of finding a variant in a finite population. Finally, evidence of influence of other genetic systems on the recipient-graft relationship is emphasized.
MeSH term(s)	Antibodies ; Genetic Variation/immunology ; Genetics, Population ; Genotyping Techniques ; HLA Antigens/immunology ; Humans ; Mexico ; Transplantation Immunology/genetics
Chemical Substances	Antibodies ; HLA Antigens
Language	Spanish
Publishing date	2012-01
Publishing country	Mexico
Document type	English Abstract ; Journal Article ; Review
ZDB-ID	425456-9
ISSN	0016-3813
ISSN	0016-3813
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Article ; Online: Insights into the genetic histories and lifeways of Machu Picchu's occupants.

Salazar, Lucy / Burger, Richard / Forst, Janine / Barquera, Rodrigo / Nesbitt, Jason / Calero, Jorge / Washburn, Eden / Verano, John / Zhu, Kimberly / Sop, Korey / Kassadjikova, Kalina / Ibarra Asencios, Bebel / Davidson, Roberta / Bradley, Brenda / Krause, Johannes / Fehren-Schmitz, Lars

Science advances

2023 Volume 9, Issue 30, Page(s) eadg3377

Abstract: Machu Picchu originally functioned as a palace within the estate of the Inca emperor Pachacuti between ~1420 and 1532 CE. Before this study, little was known about the people who lived and died there, where they came from or how they were related to the ... ...

Abstract	Machu Picchu originally functioned as a palace within the estate of the Inca emperor Pachacuti between ~1420 and 1532 CE. Before this study, little was known about the people who lived and died there, where they came from or how they were related to the inhabitants of the Inca capital of Cusco. We generated genome-wide data for 34 individuals buried at Machu Picchu who are believed to have been retainers or attendants assigned to serve the Inca royal family, as well as 34 individuals from Cusco for comparative purposes. When the ancient DNA results are contextualized using historical and archaeological data, we conclude that the retainer population at Machu Picchu was highly heterogeneous with individuals exhibiting genetic ancestries associated with groups from throughout the Inca Empire and Amazonia. The results suggest a diverse retainer community at Machu Picchu in which people of different genetic backgrounds lived, reproduced, and were interred together.
Language	English
Publishing date	2023-07-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	2810933-8
ISSN	2375-2548 ; 2375-2548
ISSN (online)	2375-2548
ISSN	2375-2548
DOI	10.1126/sciadv.adg3377
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Article ; Online: Extensive pedigrees reveal the social organization of a Neolithic community.

Nature

2023 Volume 620, Issue 7974, Page(s) 600–606

Abstract: Social anthropology and ethnographic studies have described kinship systems and networks of contact and exchange in extant ... ...

Abstract	Social anthropology and ethnographic studies have described kinship systems and networks of contact and exchange in extant populations
MeSH term(s)	Adult ; Child ; Female ; Humans ; Male ; Agriculture/history ; Anthropology, Cultural ; Burial/history ; Fathers/history ; Fertility ; France ; History, Ancient ; Mortality/history ; Pedigree ; Siblings ; Social Support/history ; Strontium Isotopes/analysis ; Social Environment ; Mothers/history
Chemical Substances	Strontium Isotopes
Language	English
Publishing date	2023-07-26
Publishing country	England
Document type	Journal Article
ZDB-ID	120714-3
ISSN	1476-4687 ; 0028-0836
ISSN (online)	1476-4687
ISSN	0028-0836
DOI	10.1038/s41586-023-06350-8
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Zs.A 26: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Pancreatic ductal adenocarcinomas from Mexican patients present a distinct genomic mutational pattern.

Sanchez, Paulina / Espinosa, Magali / Maldonado, Vilma / Barquera, Rodrigo / Belem-Gabiño, Nayeli / Torres, Javier / Cravioto, Adrian / Melendez-Zajgla, Jorge

Molecular biology reports

2020 Volume 47, Issue 7, Page(s) 5175–5184

Abstract: Pancreatic ductal adenocarcinoma (PDAC) is one of the deadliest cancers in humans, with less than 5% 5-year survival rate. PDAC is characterized by a small number of recurrent mutations, including KRAS, CDKN2A, TP53, and SMAD4 and a long "tail" of ... ...

Abstract	Pancreatic ductal adenocarcinoma (PDAC) is one of the deadliest cancers in humans, with less than 5% 5-year survival rate. PDAC is characterized by a small number of recurrent mutations, including KRAS, CDKN2A, TP53, and SMAD4 and a long "tail" of infrequent mutated genes. Most of the studies have been performed in US and European populations, so new studies are needed to describe the mutational landscape of these tumors in other cohorts. The present study analyzed the exome and transcriptome of four PDAC tumors from Mexican patients. We found a paucity of the previously described recurrent mutations, with mutations in only three genes (HERC2, CNTNAP2 and HMCN1) previously reported in PDAC with a frequency > 1%. In addition, we discovered several recurrent putative copy number aberrations in SKP2, BRAF, CSSF1R, FOXE1, JAK2 and MET genes and in genes previously reported as putative drivers in PDAC, including KRAS, SF3B1, BRAF, MYC and MET. Although a larger cohort is needed to validate these findings, our results could be pointing toward potential differences in contributing factors for PDAC in Latin-American populations.
MeSH term(s)	Adult ; Aged ; Biomarkers, Tumor/genetics ; Carcinoma, Pancreatic Ductal/genetics ; Cyclin-Dependent Kinase Inhibitor p16/genetics ; Female ; Gene Frequency ; Humans ; Male ; Middle Aged ; Mutation ; Pancreatic Neoplasms/genetics ; Proto-Oncogene Proteins p21(ras)/genetics ; Smad4 Protein/genetics ; Tumor Suppressor Protein p53/genetics
Chemical Substances	Biomarkers, Tumor ; CDKN2A protein, human ; Cyclin-Dependent Kinase Inhibitor p16 ; KRAS protein, human ; SMAD4 protein, human ; Smad4 Protein ; TP53 protein, human ; Tumor Suppressor Protein p53 ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2)
Language	English
Publishing date	2020-06-24
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	186544-4
ISSN	1573-4978 ; 0301-4851
ISSN (online)	1573-4978
ISSN	0301-4851
DOI	10.1007/s11033-020-05592-3
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