Evidence map›Paper›PMID 34673976›Full record

ArticleHuman molecular genetics2022

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

Fabienne Koenigstein, Felix Boekstegers, James F Wilson, Macarena Fuentes-Guajardo, Rolando Gonzalez-Jose, Gabriel Bedoya, Maria Cátira Bortolini, Victor Acuña-Alonzo, Carla Gallo, Andres Ruiz Linares and 2 more

Open access · greenAbstract read
In one paragraph

Article in Human molecular genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.4field-weighted citation impact, top 16% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 9 institutions in 11 countries.

Fabienne KoenigsteinStatistical Genetics Research Group, Institute of Medical Biometry, Heidelberg University, Heidelberg, Germany.
Felix BoekstegersStatistical Genetics Research Group, Institute of Medical Biometry, Heidelberg University, Heidelberg, Germany.
James F WilsonCentre for Global Health Research, Usher Institute, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland.
Macarena Fuentes-GuajardoDepartamento de Tecnología Médica, Facultad de Ciencias de la Salud, Tarapacá University, Arica, Chile.
Rolando Gonzalez-JoseInstituto Patagónico de Ciencias Sociales y Humanas, Centro Nacional Patagónico, CONICET, Puerto Madryn, Argentina.
Gabriel BedoyaInstituto de Biología, Grupo Genmol, Universidad de Antioquía, Medellín, Colombia.
Maria Cátira BortoliniInstituto de Biociências, Universidad Federal do Rio Grande do Sul, Puerto Alegre, Brazil.
Victor Acuña-AlonzoNational Institute of Anthropology and History, Mexico City, Mexico.
Carla GalloLaboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú.
Andres Ruiz LinaresMinistry of Education Key Laboratory of Contemporary Anthropology and Collaborative Innovation Center of Genetics and Development, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
Francisco RothhammerInstituto de Alta Investigación, Tarapacá University, Arica, Chile.
Justo Lorenzo BermejoStatistical Genetics Research Group, Institute of Medical Biometry, Heidelberg University, Heidelberg, Germany.
Heidelberg University · DEUniversity of Tarapacá · CLCentre for Global Health Research · CACentro Científico Tecnológico Patagónico · ARNational Institute of Anthropology and History · MXUniversidad de Antioquia · COUniversidade Federal do Rio Grande do Sul · BRUniversidad Peruana Cayetano Heredia · PEUniversity College London · GB

Funding

Medical Research Council MC_UU_00007/10
6 · The paper itself

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.

Indexed as

Child MortalityInbreedingAmerican Indian or Alaska NativeChildHemorrhageHumansInfant, NewbornPolymorphism, Single Nucleotide

Identifiers

PMID34673976
PMCPMC8947305
OpenAlexW3205588962

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.