Evidence map›Paper›PMID 37847737›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2023

Increased homozygosity due to endogamy results in fitness consequences in a human population.

N A Swinford, S P Prall, S Gopalan, C M Williams, J Sheehama, B A Scelza, B M Henn

Open access · greenAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
6.9field-weighted citation impact, top 3% 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

20 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.

  1. Pooled it
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  13. Detecting inbreeding depression in structured populations.Proceedings of the National Academy of Sciences of the United States of America · 2024
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  15. The Maintenance of Deleterious Variation in Wild Chinese Rhesus Macaques.bioRxiv : the preprint server for biology · 2024
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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

7 authors at 6 institutions in 2 countries.

N A SwinfordDepartment of Anthropology, University of California Davis, Davis, CA 95616.ORCID 0000-0001-6414-8555
S P PrallDepartment of Anthropology, University of Missouri, Columbia, MO 65211.ORCID 0000-0001-5719-6460
S GopalanDepartment of Evolutionary Anthropology, Duke University, Durham, NC 27708.ORCID 0000-0002-2608-8472
C M WilliamsCenter for Computational Molecular Biology, Brown University, Providence, RI 02912.
J SheehamaDepartment of Human, Biological and Translational Medical Sciences, School of Medicine University of Namibia, Oshakati 10005, Namibia.ORCID 0000-0001-5085-6606
B A ScelzaDepartment of Anthropology, University of California Los Angeles, Los Angeles, CA 90095.
B M HennDepartment of Anthropology, University of California Davis, Davis, CA 95616.ORCID 0000-0003-4998-287X
University of California, Davis · USBrown University · USDuke University · USUniversity of California, Los Angeles · USUniversity of Missouri · USUniversity of Namibia · NA

Funding

Supplement: Improving Inference of Genetic Architecture and Selection with African GenomesR35GM133531 · NIGMS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI HENN, BRENNA M · 2019 to 2023
$2.3M
NIGMS NIH HHS R35 GM133531
6 · The paper itself

Abstract

Recessive alleles have been shown to directly affect both human Mendelian disease phenotypes and complex traits. Pedigree studies also suggest that consanguinity results in increased childhood mortality and adverse health phenotypes, presumably through penetrance of recessive mutations. Here, we test whether the accumulation of homozygous, recessive alleles decreases reproductive success in a human population. We address this question among the Namibian Himba, an endogamous agro-pastoralist population, who until very recently practiced natural fertility. Using a sample of 681 individuals, we show that Himba exhibit elevated levels of "inbreeding," calculated as the fraction of the genome in runs of homozygosity (F

Indexed as

GenomeInbreedingChildConsanguinityFemaleGenotypeHomozygoteHumansPolymorphism, Single NucleotideReproductionbottleneckendogamyfertilitymutation loadruns of homozygosity

Identifiers

PMID37847737
PMCPMC10614605
OpenAlexW4387708309

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.