Evidence map›Paper›PMID 31533690›Full record

ArticleBMC oral health2019

Pilot GWAS of caries in African-Americans shows genetic heterogeneity.

E Orlova, J C Carlson, M K Lee, E Feingold, D W McNeil, R J Crout, R J Weyant, M L Marazita, J R Shaffer

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC oral health, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
1.9field-weighted citation impact, top 14% 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

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

  1. Pooled it
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  3. Article
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  5. Article
  6. Review
  7. Article
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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

9 authors at 2 institutions in 1 country.

E OrlovaDepartment of Human Genetics, Pittsburgh, USA.ORCID 0000-0002-7129-5796
J C CarlsonDepartment of Biostatistics, Graduate School of Public Health, Pittsburgh, USA.
M K LeeCenter for Craniofacial and Dental Genetics, Dept. of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
E FeingoldDepartment of Human Genetics, Pittsburgh, USA.
D W McNeilDepartments of Psychology, & Dental Practice and Rural Health, West Virginia University, Morgantown, USA.
R J CroutDepartment of Periodontics, School of Dentistry, West Virginia University, Morgantown, WV, USA.
R J WeyantDepartment of Dental Public Health and Information Management, Pittsburgh, USA.
M L MarazitaDepartment of Human Genetics, Pittsburgh, USA.
J R ShafferDepartment of Human Genetics, Pittsburgh, USA. john.r.shaffer@pitt.edu.
University of Pittsburgh · USWest Virginia University · US

Funding

Psychosocial Influences on Rural Children's Oral HealthR01DE014899 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI FOXMAN, BETSY, MARAZITA, MARY L. · 2002 to 2020
$39.9M
Genome Wide Association Coordinating CenterU01HG004446 · NHGRI · UNIVERSITY OF WASHINGTON · PI WEIR, BRUCE S. · 2007 to 2011
$6.6M
Dental Caries: Whole Genome Association and Gene x Environment StudiesU01DE018903 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L. · 2007 to 2010
$1.2M
Modeling childhood dental caries patterns for genomic and epigenetic analysisR03DE024264 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI SHAFFER, JOHN R · 2015 to 2016
$462k
NHGRI NIH HHS HHSN268200782096CNHGRI NIH HHS U01 HG004446NIDCR NIH HHS R01 DE014899NIDCR NIH HHS R03 DE024264NIDCR NIH HHS U01 DE018903
6 · The paper itself

Abstract

backgroundDental caries is the most common chronic disease in the US and disproportionately affects racial/ethnic minorities. Caries is heritable, and though genetic heterogeneity exists between ancestries for a substantial portion of loci associated with complex disease, a genome-wide association study (GWAS) of caries specifically in African Americans has not been performed previously.

methodsWe performed exploratory GWAS of dental caries in 109 African American adults (age > 18) and 96 children (age 3-12) from the Center for Oral Health Research in Appalachia (COHRA1 cohort). Caries phenotypes (DMFS, DMFT, dft, and dfs indices) assessed by dental exams were tested for association with 5 million genotyped or imputed single nucleotide polymorphisms (SNPs), separately in the two age groups. The GWAS was performed using linear regression with adjustment for age, sex, and two principal components of ancestry. A maximum of 1 million adaptive permutations were run to determine empirical significance.

resultsNo loci met the threshold for genome-wide significance, though some of the strongest signals were near genes previously implicated in caries such as antimicrobial peptide DEFB1 (rs2515501; p = 4.54 × 10

conclusionsThe genetic heterogeneity results suggest that there may be differences in the contributions of genetic variants to caries across racial groups, and highlight the critical need for the inclusion of minorities in subsequent and larger genetic studies of caries in order to meet the goals of precision medicine and to reduce oral health disparities.

Indexed as

Dental CariesGenetic HeterogeneityGenome-Wide Association StudyAdultAnimalsbeta-DefensinsBlack or African AmericanChildFemaleGenetic Predisposition to DiseaseHumansInfant, NewbornMaleMiddle AgedPolymorphism, Single Nucleotidebeta-DefensinsDEFB1 protein, humanAdultChildDentistryGenetic predisposition to diseaseHealthcare disparities*HumansPublic health

Identifiers

PMID31533690
PMCPMC6751797
OpenAlexW2974239187

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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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.