Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine

Autores
Koenigstein, Fabienne; Boekstegers, Felix; Wilson, James F.; Fuentes Guajardo, Macarena; Gonzalez-Jose, Rolando; Bedoya Berrío, Gabriel; Bortolini, Maria Cátira; Acuña Alonzo, Victor; Gallo, Carla; Ruiz-Linares, Andres; Rothhammer, Francisco; Lorenzo Bermejo, Justo
Año de publicación
2021
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
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.
Fil: Koenigstein, Fabienne. Ruprecht Karls Universitat Heidelberg; Alemania
Fil: Boekstegers, Felix. Ruprecht Karls Universitat Heidelberg; Alemania
Fil: Wilson, James F.. University of Edinburgh; Reino Unido
Fil: Fuentes Guajardo, Macarena. Universidad de Tarapacá; Chile
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
Fil: Bedoya Berrío, Gabriel. Universidad de Antioquia; Colombia
Fil: Bortolini, Maria Cátira. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Acuña Alonzo, Victor. Instituto Nacional de Antropología e Historia. Escuela Nacional de Antropología e Historia; México
Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú
Fil: Ruiz-Linares, Andres. Fudan University; China. Aix-Marseille Université; Francia. Centre National de la Recherche Scientifique; Francia. University College London; Reino Unido
Fil: Rothhammer, Francisco. Universidad de Tarapaca. Instituto de Alta Investigación; Chile
Fil: Lorenzo Bermejo, Justo. Ruprecht Karls Universitat Heidelberg; Alemania
Materia
INBREEDING
GENOMICA
POBLACIONES MESTIZAS
LATINOAMERICA
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/152389
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/152389
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicineKoenigstein, FabienneBoekstegers, FelixWilson, James F.Fuentes Guajardo, MacarenaGonzalez-Jose, RolandoBedoya Berrío, GabrielBortolini, Maria CátiraAcuña Alonzo, VictorGallo, CarlaRuiz-Linares, AndresRothhammer, FranciscoLorenzo Bermejo, JustoINBREEDINGGENOMICAPOBLACIONES MESTIZASLATINOAMERICAhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1The 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.Fil: Koenigstein, Fabienne. Ruprecht Karls Universitat Heidelberg; AlemaniaFil: Boekstegers, Felix. Ruprecht Karls Universitat Heidelberg; AlemaniaFil: Wilson, James F.. University of Edinburgh; Reino UnidoFil: Fuentes Guajardo, Macarena. Universidad de Tarapacá; ChileFil: Gonzalez-Jose, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Bedoya Berrío, Gabriel. Universidad de Antioquia; ColombiaFil: Bortolini, Maria Cátira. Universidade Federal do Rio Grande do Sul; BrasilFil: Acuña Alonzo, Victor. Instituto Nacional de Antropología e Historia. Escuela Nacional de Antropología e Historia; MéxicoFil: Gallo, Carla. Universidad Peruana Cayetano Heredia; PerúFil: Ruiz-Linares, Andres. Fudan University; China. Aix-Marseille Université; Francia. Centre National de la Recherche Scientifique; Francia. University College London; Reino UnidoFil: Rothhammer, Francisco. Universidad de Tarapaca. Instituto de Alta Investigación; ChileFil: Lorenzo Bermejo, Justo. Ruprecht Karls Universitat Heidelberg; AlemaniaOxford University Press2021-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/152389Koenigstein, 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; 1-100964-69061460-2083CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddab302/6406904info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddab302info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T14:52:20Zoai:ri.conicet.gov.ar:11336/152389instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-15 14:52:20.243CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine
title Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine
spellingShingle Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine
Koenigstein, Fabienne
INBREEDING
GENOMICA
POBLACIONES MESTIZAS
LATINOAMERICA
title_short Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine
title_full Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine
title_fullStr Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine
title_full_unstemmed Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine
title_sort Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine
dc.creator.none.fl_str_mv Koenigstein, Fabienne
Boekstegers, Felix
Wilson, James F.
Fuentes Guajardo, Macarena
Gonzalez-Jose, Rolando
Bedoya Berrío, Gabriel
Bortolini, Maria Cátira
Acuña Alonzo, Victor
Gallo, Carla
Ruiz-Linares, Andres
Rothhammer, Francisco
Lorenzo Bermejo, Justo
author Koenigstein, Fabienne
author_facet Koenigstein, Fabienne
Boekstegers, Felix
Wilson, James F.
Fuentes Guajardo, Macarena
Gonzalez-Jose, Rolando
Bedoya Berrío, Gabriel
Bortolini, Maria Cátira
Acuña Alonzo, Victor
Gallo, Carla
Ruiz-Linares, Andres
Rothhammer, Francisco
Lorenzo Bermejo, Justo
author_role author
author2 Boekstegers, Felix
Wilson, James F.
Fuentes Guajardo, Macarena
Gonzalez-Jose, Rolando
Bedoya Berrío, Gabriel
Bortolini, Maria Cátira
Acuña Alonzo, Victor
Gallo, Carla
Ruiz-Linares, Andres
Rothhammer, Francisco
Lorenzo Bermejo, Justo
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv INBREEDING
GENOMICA
POBLACIONES MESTIZAS
LATINOAMERICA
topic INBREEDING
GENOMICA
POBLACIONES MESTIZAS
LATINOAMERICA
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv 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.
Fil: Koenigstein, Fabienne. Ruprecht Karls Universitat Heidelberg; Alemania
Fil: Boekstegers, Felix. Ruprecht Karls Universitat Heidelberg; Alemania
Fil: Wilson, James F.. University of Edinburgh; Reino Unido
Fil: Fuentes Guajardo, Macarena. Universidad de Tarapacá; Chile
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
Fil: Bedoya Berrío, Gabriel. Universidad de Antioquia; Colombia
Fil: Bortolini, Maria Cátira. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Acuña Alonzo, Victor. Instituto Nacional de Antropología e Historia. Escuela Nacional de Antropología e Historia; México
Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú
Fil: Ruiz-Linares, Andres. Fudan University; China. Aix-Marseille Université; Francia. Centre National de la Recherche Scientifique; Francia. University College London; Reino Unido
Fil: Rothhammer, Francisco. Universidad de Tarapaca. Instituto de Alta Investigación; Chile
Fil: Lorenzo Bermejo, Justo. Ruprecht Karls Universitat Heidelberg; Alemania
description 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.
publishDate 2021
dc.date.none.fl_str_mv 2021-10
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/152389
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
0964-6906
1460-2083
CONICET Digital
CONICET
url http://hdl.handle.net/11336/152389
identifier_str_mv 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
0964-6906
1460-2083
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddab302/6406904
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddab302
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Oxford University Press
publisher.none.fl_str_mv Oxford University Press
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.22299

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