Universidad Peruana Cayetano Heredia

Inbreeding, native American ancestry and child mortality: Linking human selection and paediatric medicine.

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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, Gabriel
dc.contributor.author Bortolini, Maria Cátira
dc.contributor.author Acuña-Alonzo, Victor
dc.contributor.author Gallo López-Aliaga, Carla Maria
dc.contributor.author Ruiz Linares, Andres
dc.contributor.author Rothhammer, Francisco
dc.contributor.author Bermejo, Justo Lorenzo
dc.date.accessioned 2022-02-01T21:18:28Z
dc.date.available 2022-02-01T21:18:28Z
dc.date.issued 2022
dc.identifier.uri https://hdl.handle.net/20.500.12866/11306
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 new-born (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 en_US
dc.language.iso eng
dc.publisher Oxford University Press
dc.relation.ispartofseries Human Molecular Genetics
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject pregnancy en_US
dc.subject congenital abnormality en_US
dc.subject hemorrhage en_US
dc.subject heterogeneity en_US
dc.subject anencephaly en_US
dc.subject child en_US
dc.subject chile en_US
dc.subject fetus en_US
dc.subject genome en_US
dc.subject genotype|homozygote en_US
dc.subject inbreeding en_US
dc.subject low birth weight infant en_US
dc.subject newborn en_US
dc.subject parent en_US
dc.subject pediatrics en_US
dc.subject trisomy en_US
dc.subject mortality en_US
dc.subject death of child en_US
dc.subject native americans en_US
dc.subject child mortality en_US
dc.title Inbreeding, native American ancestry and child mortality: Linking human selection and paediatric medicine. en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1093/hmg/ddab302
dc.relation.issn 1460-2083


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