Evidence map›Paper›PMID 38849772›Full record

ArticleBMC oral health2024

Family-based GWAS for dental class I malocclusion and clefts.

Mariana Bezamat, Chelsea E Carver, Alexandre R Vieira

Abstract read
In one paragraph

Article in BMC oral health, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Integrative Analysis ofDentistry journal · 2026
    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

3 authors.

Mariana BezamatDepartment of Oral and Craniofacial Sciences, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA, USA.
Chelsea E CarverDepartment of Oral and Craniofacial Sciences, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA, USA.
Alexandre R VieiraSchool of Dental Medicine, East Carolina University, Greenville, NC, 27834-4354, USA. vieiraa23@ecu.edu.

Funding

Dental anomalies as an extended phenotype for cleftsR21DE016718 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI VIEIRA, ALEXANDRE REZENDE · 2005 to 2006
$402k
NIDCR NIH HHS R21 DE016718NIH HHS R21-DE16718
6 · The paper itself

Abstract

backgroundIndividuals born with cleft lip and/or palate who receive corrective surgery regularly have abnormal growth in the midface region such that they exhibit premaxillary hypoplasia. However, there are also genetic contributions to craniofacial morphology in the midface region, so although these individuals appear to have Class III skeletal discrepancy, their molar relationship may be Class I. Past genome-wide association studies (GWASs) on skeletal Class II and III malocclusion suggested that multiple genetic markers contribute to these phenotypes via a multifactorial inheritance model, but research has yet to examine the genetic markers associated with dental Class I malocclusion. Thus, our goal was to conduct a family based GWAS to identify genes across the genome that are associated with Class I malocclusion, as defined by molar relations, in humans with and without clefts.

methodsOur cohort consisted of 739 individuals from 47 Filipino families originally recruited in 2006 to investigate the genetic basis of orofacial clefts. All individuals supplied blood samples for DNA extraction and genotyping, and a 5,766 single nucleotide polymorphism (SNP) custom panel was used for the analyses. We performed a transmission disequilibrium test for participants with and without clefts to identify genetic contributors potentially involved with Class I malocclusion.

resultsIn the total cohort, 13 SNPs had associations that reached the genomic control threshold (p < 0.005), while five SNPs were associated with Class I in the cohort of participants without clefts, including four associations that were identified in the total cohort. The associations for the SNPs ABCA4 rs952499, SOX1-OT rs726455, and RORA rs877228 are of particular interest, as past research found associations between these genes and various craniofacial phenotypes, including cleft lip and/or palate.

conclusionsThese findings support the multifactorial inheritance model for dental Class I malocclusion and suggest a common genetic basis for different aspects of craniofacial development.

Indexed as

Cleft LipCleft PalateGenome-Wide Association StudyPolymorphism, Single NucleotideAdolescentAdultChildCohort StudiesFemaleGenetic MarkersGenotypeHumansLinkage DisequilibriumMaleMalocclusion, Angle Class IMultifactorial InheritanceGenetic MarkersClass I malocclusionCleft lipCleft palateGenetic variationGWAS

Identifiers

PMID38849772
PMCPMC11162011

What Socratic holds

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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 Socratic graph.