NDLI: Family-based GWAS for dental class I malocclusion and clefts

Content Provider	Springer Nature : BioMed Central
Author	Bezamat, Mariana Carver, Chelsea E. Vieira, Alexandre R.
Abstract	Background Individuals 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. Methods Our 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. Results In 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. Conclusions These findings support the multifactorial inheritance model for dental Class I malocclusion and suggest a common genetic basis for different aspects of craniofacial development.
Related Links	https://bmcoralhealth.biomedcentral.com/counter/pdf/10.1186/s12903-024-04444-x.pdf
Ending Page	5
Page Count	5
Starting Page	1
File Format	HTM / HTML
ISSN	14726831
DOI	10.1186/s12903-024-04444-x
Journal	BMC Oral Health
Issue Number	1
Volume Number	24
Language	English
Publisher	BioMed Central
Publisher Date	2024-06-07
Access Restriction	Open
Subject Keyword	Dentistry Oral and Maxillofacial Surgery Class I malocclusion Cleft lip Cleft palate Genetic variation GWAS
Content Type	Text
Resource Type	Article
Subject	Dentistry
Journal Impact Factor	2.6/2023
5-Year Journal Impact Factor	3.2/2023

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