Frequencies and significance of HLA genes in Amerindians from Chile Cañete Mapuche

Arnaiz‐Villena, Antonio; Juárez, Ignacio; López‐Nares, Adrián; Palacio-Grüber, José; Vaquero, Christian; Callado, Álvaro; H-Sevilla, Alejandro; Rey, Diego; Martin-Villa, José Manuel

doi:10.1016/j.humimm.2019.04.015

Cited by 3 publications

(7 citation statements)

References 11 publications

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“…While, for example, DRB1*04:07g is the most frequent DRB1 allele ( f =13.9%) in our study, it only reaches 2.9% and 3.0% in the former studies. In contrast, the DRB1*04:03 allele, found at remarkably high frequencies of 31.7% ( 24 ) and 18.4% ( 23 ), had only an AF of f =1.2% in our study. In another study with a small sample of n =20 Huilliche, a Mapuche subgroup in southern Chile ( 9 ), DRB1*04:07g was again the most frequent DRB1 allele with f =27.5%.…”

Section: Discussioncontrasting

confidence: 92%

“…Loci HLA-B and -DRB1 show greater differences in allele ranking and frequency. Two additional studies focusing specifically on Mapuche HLA allele and haplotype distributions in samples of n =104 and n =66 individuals from Cañete, a city in the Biobío region 600 km south of Santiago, found the same prevalent alleles as we did in our CL-MP sample, but some frequencies differ considerably ( 23 , 24 ). While, for example, DRB1*04:07g is the most frequent DRB1 allele ( f =13.9%) in our study, it only reaches 2.9% and 3.0% in the former studies.…”

Section: Discussionsupporting

confidence: 80%

“…The four remaining LFD alleles show - in addition to their occurrence in South and Central American indigenous populations - also relevant incidences in other world regions. B*35:20 has been documented before in a Mapuche population sample ( f =0.024 ( 23 )) and several other South and Central American Native populations, for example in two Colombian Ticuna populations ( f =0.079 and f =0.036 ( 9 )) and a Mestizo population from Nicaragua (f=0.013 ( 52 )), but also occurs in other world regions, e.g. India ( f =0.037 ( 53 )), Israel ( f =0.035 ( 54 )), and Singapore ( f =0.012 ( 54 )).…”

Section: Discussionmentioning

confidence: 59%

“…B*39:09g stands out in our analyses as the most frequent HLA-B allele and by a considerably higher frequency in CL-MP ( f =0.163) than in the non-Indigenous CL-NI ( f =0.096). To AFND, this allele was reported at very high frequencies in the above described Huiliche ( f =0.425 ( 9 )) and Mapuche population samples ( f =0.200 ( 23 )) from Chile and in a Yucpa population from Venezuela ( f =0.349 ( 55 )). Apart from further South American populations, occurrence of the allele, albeit with much lower incidence, was reported from several Asian, e.g.…”

Section: Discussionmentioning

confidence: 89%

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HLA allele and haplotype frequencies of registered stem cell donors in Chile

Solloch,

Giani,

Pattillo Garnham

et al. 2023

Front. Immunol.

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Patients in need of hematopoietic stem cell transplantation often rely on unrelated stem cell donors matched in certain human leukocyte antigen (HLA) genes. Donor search is complicated by the extensive allelic variability of the HLA system. Therefore, large registries of potential donors are maintained in many countries worldwide. Population-specific HLA characteristics determine the registry benefits for patients and also the need for further regional donor recruitment. In this work, we analyzed HLA allele and haplotype frequencies of donors of DKMS Chile, the first Chilean donor registry, with self-assessed “non-Indigenous” (n=92,788) and “Mapuche” (n=1,993) ancestry. We identified HLA alleles that were distinctly more abundant in the Chilean subpopulations than in worldwide reference populations, four of them particularly characteristic for the Mapuche subpopulation, namely B*39:09g, B*35:09, DRB1*04:07g, and DRB1*16:02g. Both population subsamples carried haplotypes of both Native American and European origin at high frequencies, reflecting Chile’s complex history of admixture and immigration. Matching probability analysis revealed limited benefits for Chilean patients (both non-Indigenous and Mapuche) from donor registries of non-Chilean donors, thus indicating a need for ongoing significant donor recruitment efforts in Chile.

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Section: Discussioncontrasting

confidence: 92%

Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 59%

Section: Discussionmentioning

confidence: 89%

See 2 more Smart Citations

HLA allele and haplotype frequencies of registered stem cell donors in Chile

Solloch,

Giani,

Pattillo Garnham

et al. 2023

Front. Immunol.

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“…Native Chileans, an important Amerindian population in South America, make up around 9% of the total population of Chile, that is 1,585,680 individuals who self-identified as Amerindian, according to Casen (2015) [15]. The Mapuche live in southern South America, in both Chile and Argentina, an area divided by the Andes, and account for approximately 84% of native Chileans [15,16].…”

Section: Rationalementioning

confidence: 99%

The Metabolization Profile of the CYP2D6 Gene in Amerindian Populations: A Review

Leitão

Souza

Rodrigues

et al. 2020

Genes

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Background: the CYP2D6 gene is clinically important and is known to have a number of variants. This gene has four distinct metabolization profiles that are determined by the different allelic forms present in the individual. The relative frequency of these profiles varies considerably among human populations around the world. Populations from more isolated regions, such as Native Americans, are still relatively poorly studied, however. Even so, recent advances in genotyping techniques and increasing interest in the study of these populations has led to a progressive increase in publication rates. Given this, the review presented here compiled the principal papers published on the CYP2D6 gene in Amerindian populations to determine the metabolic profile of this group. Methods: a systematic literature review was conducted in three scientific publication platforms (Google Scholar, Science Direct, and Pubmed). The search was run using the keywords “CYP2D6 Amerindians” and “CYP2D6 native Americans”. Results: a total of 13 original papers met the inclusion criteria established for this study. All the papers presented frequencies of the different CYP2D6 alleles in Amerindian populations. Seven of the papers focused specifically on Amerindian populations from Mexico, while the others included populations from Argentina, Chile, Costa Rica, Mexico, Paraguay, Peru, and the United States. The results of the papers reviewed here showed that the extensive metabolization profile was the most prevalent in all Amerindian populations studied to date, followed by the intermediate, slow, and ultra-rapid, in that order. Conclusion: the metabolization profiles of the Amerindian populations reviewed in the present study do not diverge in any major way from those of other populations from around the world. Given the paucity of the data available on Amerindian populations, further research is required to better characterize the metabolization profile of these populations to ensure the development of adequate therapeutic strategies.

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South American Indigenous Communities and Body Mass Index: A Systematic Review and Meta-Analysis

et al. 2021

Preprint

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Obesity is an increasing new pandemic. Currently more than 1.9 billion adults are overweight and at least 700 million of them are obese. Obesity is the result of a positive energy balance, which is conditioned by both environmental and genetic factors. Interestingly, individuals from similar ethnic-based ancestry communities, share both environmental and genetic features. Here, we described the relationship between indigenous Chilean groups and body mass Index. We conducted a Systematic review and Meta-analysis on Pubmed, LILACS, Scielo, Web of Science and Scopus databases. Our results showed that Indigenous Children present a lower BMI than Non-Indigenous Children. However, no difference within BMI was identified in adults. The gender affected the BMI as well. Aymara and Mapuche Women presented higher BMI than Indigenous Men. In the other hand, Indigenous people living in rural environment showed lower BMI than those whose live-in urban areas. Finally, Indigenous communities presented no difference in the risk to suffer Obesity when compared with Non-Indigenous communities. Here suggest that ethnicity could be a health determinant as well as a risk factor for obesity. Then, targeted prevention strategies with ethnic-based focus would be developed.

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Frequencies and significance of HLA genes in Amerindians from Chile Cañete Mapuche

Cited by 3 publications

References 11 publications

HLA allele and haplotype frequencies of registered stem cell donors in Chile

HLA allele and haplotype frequencies of registered stem cell donors in Chile

The Metabolization Profile of the CYP2D6 Gene in Amerindian Populations: A Review

South American Indigenous Communities and Body Mass Index: A Systematic Review and Meta-Analysis

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