Evidence map›Paper›PMID 33147256›Full record

ArticlePloS one2020

Deaf intermarriage has limited effect on the prevalence of recessive deafness and no effect on underlying allelic frequency.

Derek C Braun, Samir Jain, Eric Epstein, Brian H Greenwald, Brienna Herold, Margaret Gray

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.6field-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

2 citing papers in PubMed, 8 citations in OpenAlex.

  1. TheGenes · 2023
    Article
  2. 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

6 authors at 1 institution in 1 country.

Derek C BraunDepartment of Science, Technology, and Mathematics, Gallaudet University, Washington, D.C., United States of America.ORCID 0000-0003-4922-5588
Samir JainDepartment of Science, Technology, and Mathematics, Gallaudet University, Washington, D.C., United States of America.
Eric EpsteinDepartment of Science, Technology, and Mathematics, Gallaudet University, Washington, D.C., United States of America.
Brian H GreenwaldDepartment of History, Philosophy, Religion, and Sociology, Gallaudet University, Washington, D.C., United States of America.ORCID 0000-0001-7889-6423
Brienna HeroldDepartment of Science, Technology, and Mathematics, Gallaudet University, Washington, D.C., United States of America.
Margaret GrayDepartment of Science, Technology, and Mathematics, Gallaudet University, Washington, D.C., United States of America.
Gallaudet University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The idea that deaf intermarriage increases the prevalence of deafness was forcefully pushed in the late 19th century by Alexander Graham Bell, in proceedings published by the National Academy of Science. Bell's hypothesis was not supported by a 19th century study by Edward Allen Fay, which was funded by Bell's own organization, the Volta Bureau. The Fay study showed through an analysis of 4,471 deaf marriages that the chances of having deaf children did not increase significantly when both parents were deaf. In light of an apparent increase in non-complementary pairings when a modern dataset of Gallaudet alumni was compared with the 19th century Fay dataset, Bell's argument has been resurrected. This hypothesis is that residential schools for the deaf, which concentrate signing deaf individuals together, have promoted assortative mating, which in turn has increased the prevalence of recessive deafness and also the commonest underlying deafness allele. Because this hypothesis persists, even though it contradicts classical models of assortative mating, it is critically important that it be thoroughly investigated. In this study, we used an established forward-time genetics simulator with parameters and measurements collected from the published literature. Compared to mathematical equations, simulations allowed for more complex modeling, operated without assumptions of parametricity, and captured ending distributions and variances. Our simulation results affirm predictions from classical equations and show that intense assortative mating only modestly increases the prevalence of deafness, with this effect mostly completed by the third generation. More importantly, our data show that even intense assortative mating does not affect the frequency of the underlying alleles under reported conditions. These results are not locus-specific and are generalizable to other forms of recessive deafness. We explain the higher rate of non-complementary pairings measured in the contemporary Gallaudet alumni sample as compared to the Fay dataset.

Indexed as

ConsanguinityGene FrequencyDeafnessFemaleGenes, RecessiveHumansMaleModels, GeneticPhenotype

Identifiers

PMID33147256
PMCPMC7641374
OpenAlexW3096816742

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.