Mostrar el registro sencillo del ítem

dc.contributor.author
Koenigstein, Fabienne  
dc.contributor.author
Boekstegers, Felix  
dc.contributor.author
Wilson, James F.  
dc.contributor.author
Fuentes Guajardo, Macarena  
dc.contributor.author
Gonzalez-Jose, Rolando  
dc.contributor.author
Bedoya Berrío, Gabriel  
dc.contributor.author
Bortolini, Maria Cátira  
dc.contributor.author
Acuña Alonzo, Victor  
dc.contributor.author
Gallo, Carla  
dc.contributor.author
Ruiz-Linares, Andres  
dc.contributor.author
Rothhammer, Francisco  
dc.contributor.author
Lorenzo Bermejo, Justo  
dc.date.available
2022-02-21T16:54:06Z  
dc.date.issued
2021-10  
dc.identifier.citation
Koenigstein, Fabienne; Boekstegers, Felix; Wilson, James F.; Fuentes Guajardo, Macarena; Gonzalez-Jose, Rolando; et al.; Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine; Oxford University Press; Human Molecular Genetics; 2021; 10-2021; 1-10  
dc.identifier.issn
0964-6906  
dc.identifier.uri
http://hdl.handle.net/11336/152389  
dc.description.abstract
The children of related parents show increased risk of early mortality. The Native American genome typically exhibits long stretches of homozygosity, and Latin Americans are highly heterogeneous regarding the individual burden of homozygosity, the proportion and the type of Native American ancestry. We analysed nationwide mortality and genome-wide genotype data from admixed Chileans to investigate the relationship between common causes of child mortality, homozygosity and Native American ancestry. Results from two-stage linear-Poisson regression revealed a strong association between the sum length of runs of homozygosity (SROH) above 1.5 Megabases (Mb) in each genome and mortality due to intracranial non-traumatic haemorrhage of foetus and newborn (5% increased risk of death per Mb in SROH, P = 1 × 10−3) and disorders related to short gestation and low birth weight (P = 3 × 10−4). The major indigenous populations in Chile are Aymara–Quechua in the north of the country and the Mapuche–Huilliche in the south. The individual proportion of Aymara–Quechua ancestry was associated with an increased risk of death due to anencephaly and similar malformations (P = 4 × 10−5), and the risk of death due to Edwards and Patau trisomy syndromes decreased 4% per 1% Aymara–Quechua ancestry proportion (P = 4 × 10−4) and 5% per 1% Mapuche–Huilliche ancestry proportion (P = 2 × 10−3). The present results suggest that short gestation, low birth weight and intracranial non-traumatic haemorrhage mediate the negative effect of inbreeding on human selection. Independent validation of the identified associations between common causes of child death, homozygosity and fine-scale ancestry proportions may inform paediatric medicine.  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
Oxford University Press  
dc.rights
info:eu-repo/semantics/openAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc/2.5/ar/  
dc.subject
INBREEDING  
dc.subject
GENOMICA  
dc.subject
POBLACIONES MESTIZAS  
dc.subject
LATINOAMERICA  
dc.subject.classification
Otras Ciencias Biológicas  
dc.subject.classification
Ciencias Biológicas  
dc.subject.classification
CIENCIAS NATURALES Y EXACTAS  
dc.title
Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine  
dc.type
info:eu-repo/semantics/article  
dc.type
info:ar-repo/semantics/artículo  
dc.type
info:eu-repo/semantics/publishedVersion  
dc.date.updated
2022-02-17T13:14:20Z  
dc.identifier.eissn
1460-2083  
dc.journal.volume
2021  
dc.journal.pagination
1-10  
dc.journal.pais
Reino Unido  
dc.journal.ciudad
Oxford  
dc.description.fil
Fil: Koenigstein, Fabienne. Ruprecht Karls Universitat Heidelberg; Alemania  
dc.description.fil
Fil: Boekstegers, Felix. Ruprecht Karls Universitat Heidelberg; Alemania  
dc.description.fil
Fil: Wilson, James F.. University of Edinburgh; Reino Unido  
dc.description.fil
Fil: Fuentes Guajardo, Macarena. Universidad de Tarapacá; Chile  
dc.description.fil
Fil: Gonzalez-Jose, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina  
dc.description.fil
Fil: Bedoya Berrío, Gabriel. Universidad de Antioquia; Colombia  
dc.description.fil
Fil: Bortolini, Maria Cátira. Universidade Federal do Rio Grande do Sul; Brasil  
dc.description.fil
Fil: Acuña Alonzo, Victor. Instituto Nacional de Antropología e Historia. Escuela Nacional de Antropología e Historia; México  
dc.description.fil
Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú  
dc.description.fil
Fil: Ruiz-Linares, Andres. Fudan University; China. Aix-Marseille Université; Francia. Centre National de la Recherche Scientifique; Francia. University College London; Reino Unido  
dc.description.fil
Fil: Rothhammer, Francisco. Universidad de Tarapaca. Instituto de Alta Investigación; Chile  
dc.description.fil
Fil: Lorenzo Bermejo, Justo. Ruprecht Karls Universitat Heidelberg; Alemania  
dc.journal.title
Human Molecular Genetics  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddab302/6406904  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1093/hmg/ddab302