Background: Tooth agenesis is one of the most common anomalies of human dentition and is due to a complex and not fully elucidated etiology. The purpose of this study was to evaluate the possibility that polymorphic variants of genes encoding the main folate and choline metabolism enzymes might be associated with the risk of hypodontia in the Polish population.
Methods And Results: We analyzed 21 polymorphisms of 13 candidate genes and found that single nucleotide polymorphisms (SNPs) in the CHDH gene are significantly correlated with the risk of dental agenesis. The strongest association was found for the SNP located in the intronic sequence of CHDH. Individuals carrying one copy of the rs6445606 C allele had an over two-fold decreased risk of having hypodontia (odds ratio [OR]CTvsTT=0.434; 95% confidence interval [CI], 0.2724-0.6915; p=0.0004; pcorr=0.0084). A reduced risk of tooth agenesis was also observed in individuals with one or two copies of the rs6445606 C allele compared to T allele carriers (ORCT+CCvsTT=0.524; 95% CI, 0.3386-0.8097; p=0.0035; pcorr=0.0735). Moreover, the gene-gene interaction analysis revealed a significant epistatic interaction between CHDH (rs6445606) and PLD2 (rs3764897) in the susceptibility to hypodontia (p=0.004).
Conclusion: Our study identified CHDH and PLD2 as novel candidate genes, the nucleotide variants of which could be associated with the risk of tooth agenesis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/bdra.20771 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Dentigerous Cyst and Glandular Odontogenic Cyst: A Rare Combination of Coexisting Pathologies.
Cureus
December 2024
Oral and Maxillofacial Radiology, Henry M. Goldman School of Dental Medicine, Boston, USA.
A dentigerous cyst (DC) is the most common developmental cystic lesion of the jaws. Histologically, these cysts derive from the odontogenic epithelium that includes the reduced enamel epithelium, epithelial cell rests of Serres, and epithelial cell rests of Malassez. Radiographically, DCs are usually presented as well-defined radiolucencies associated with the crown of an unerupted tooth at the level of the cementoenamel junction (CEJ).
View Article and Find Full Text PDFDental Implant Rehabilitation in Patients Carrying WNT10A Mutations With Different Molecular Statuses and Phenotypes: A Retrospective Cohort Study.
Clin Oral Implants Res
January 2025
Second Dental Center, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Objectives: WNT10A mutations are associated with tooth agenesis. This study aimed to assess the clinical outcomes of dental implants in patients carrying WNT10A mutations with different molecular statuses and phenotypes over a long-term follow-up period.
Materials And Methods: Patients with tooth agenesis were screened by whole-exome sequencing (WES) from January 2010 to September 2023.
Isolated hypoglossia: Oromandibular Limb Hypogenesis Syndrome Type 1 A - A Rare Case Report.
J Clin Exp Dent
December 2024
Associate Professor, Department of Pediatric & Preventive Dentistry, K.S.D. Jain Dental College & Hospital, Kolkata, India.
Hypoglossia is a rare developmental anomaly of tongue. It is usually associated with various syndromes and other anomalies. Most common association of hypoglossia is with limb deformity and these disorders are collectively grouped as Oro Mandibular Limb Hypogenesis (OLHS) Syndrome.
View Article and Find Full Text PDFSleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.
Ther Adv Respir Dis
January 2025
Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, 4800 Sand Point Way NE, OC 7.730, Seattle, WA 98105, USA.
Background: Joubert syndrome (JS) is an autosomal recessive disorder with a distinctive mid-hindbrain malformation known as the "molar tooth sign" which involves the breathing control center and its connections with other structures. Literature has reported significant respiratory abnormalities which included hyperpnea interspersed with apneic episodes during wakefulness. Larger-scale studies looking at polysomnographic findings or subjective reports of sleep problems in this population have not yet been published.
View Article and Find Full Text PDFOral and Maxillofacial Manifestations of Kallmann Syndrome: A Systematic Analysis of the Literature.
Spec Care Dentist
January 2025
Department of Oral and Maxillofacial Pathology, School of Dentistry, Universidade de Pernambuco, Recife, Pernambuco, Brazil.
Aims: Kallmann syndrome (KS) is a rare genetic disorder characterized by congenital hypogonadotropic hypogonadism and varied clinical features. Despite its recognition, the oral and maxillofacial manifestations remain poorly understood. This study synthesized clinical aspects and management of KS-related oral and maxillofacial alterations.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!