Genetic Variants of BMP2 and Their Association with the Risk of Non-Syndromic Tooth Agenesis

Lu, Yun; Qian, Yajing; Zhang, Jinglu; Gong, Miao; Wang, Yuting; Gu, Ning; Ma, Lan; Xu, Min; Ma, Junqing; Zhang, Weibing; Pan, Yongchu; Wang, Lin

doi:10.1371/journal.pone.0158273

Cited by 19 publications

(21 citation statements)

References 29 publications

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“…More than 60 syndromes catalogued in Online Mendelian Inheritance in Man (OMIM) are associated with agenesis. Non-syndromic tooth agenesis involves a congenitally missing tooth in an isolated form, without an association with any other major birth defects [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Association between Tooth Agenesis and Skeletal Malocclusions

Costa

Trevizan

Matsumoto

et al. 2017

JOMR

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ObjectivesThe aim of this study was to evaluate the association between tooth agenesis and skeletal malocclusions in Brazilian non-syndromic orthodontic patients.Material and MethodsPretreatment orthodontic records of 348 patients of both genders and with various skeletal malocclusions were examined. Tooth agenesis was evaluated in panoramic radiographs. Angular measurements were taken from lateral cephalometric radiographs to classify the patient’s malocclusion as skeletal Class I, Class II and Class III. Subjects were divided into 2 groups, “with tooth agenesis” and “without tooth agenesis”. Chi-square or Fisher exact test was used to compare categorical data. ANOVA with Tukey’s post-test was used for means comparisons. An alpha of 5% was established. ResultsFrom 348 analysed patients, 28 presented tooth agenesis. There was no difference between genders (P = 0.27) nor mean age (P = 0.16). The most prevalent skeletal malocclusion was Class I (63.11%), followed by Class II (25.94%), and Class III (10.95%). The mean of congenitally missing teeth was 1.3 (SD 0.13). Thirteen subjects had premolar agenesis, 13 upper lateral incisor agenesis, 4 lower incisor agenesis and 2 molars agenesis. The group with tooth agenesis presented A point-nasion-B point (ANB) angle smaller (1.66 [SD 2.52]) than the group without tooth agenesis (2.86 [SD 2.49]) (P = 0.01). ANB angle had a negative correlation with the number of congenitally missing teeth (P = 0.039; r = -0.39).ConclusionsTooth agenesis is associated with a smaller A point-nasion-B point angle and is negatively correlated with the number of congenitally missing teeth.

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Section: Introductionmentioning

confidence: 99%

Association between Tooth Agenesis and Skeletal Malocclusions

Costa

Trevizan

Matsumoto

et al. 2017

JOMR

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“…In the past few years, much progress has been made in the identification of the developmental basis of odontogenesis and the genes involved in TA. [6][7][8][9][10][11][12] In fact, genetic polymorphisms in many genes, including MSX1 (msh homeobox 1), 20 PAX9 (paired box 9), 20 FGF3 (fibroblast growth factor 3), 7 FGF10 (fibroblast growth factor 10), 7 FGFR2 (fibroblast growth factor receptor 2), 7 FGFR1 (fibroblast growth factor receptor 1), 21 BMP2 (bone morphogenetic protein 2), 6 BMP4 (bone morphogenetic protein 4), 10,12 TGF 1 (transforming growth factor beta 1), 11 TGF 3 (transforming growth factor beta 3), 10 IRF6 (interferon regulatory factor 6), 9 MMP1 (matrix metalloproteinase 1), 22 MMP20 (matrix metalloproteinase 20), 22 MMP9 (matrix metalloproteinase 9), 10 MMP13 (matrix metalloproteinase 13), 10 and AXIN2 (axin-related protein 2) 20 have been associated with non-syndromic TA. However, to the best of our knowledge, this is the first study evaluating genetic ESR2 and tooth agenesis Marañón-Vásquez et al…”

Section: Discussionmentioning

confidence: 99%

“…Non-syndromic TA includes a congenitally missing tooth (or teeth) in an isolated form, without an association with any other major birth defect. 6 However, several studies have proposed a strong genetic background for isolated TA. [6][7][8][9][10][11][12] Estrogen regulates cell growth, differentiation, and development.…”

Section: Introductionmentioning

confidence: 99%

Genetic polymorphism in esr2 and risk of tooth agenesis

Marañón‐Vásquez

Spada

Omori

et al. 2019

CRORJ

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RESUMOIntrodução: A agenesia dentária (AD) é a ausência congênita de um ou mais dentes. Vários estudos vêm sugerindo o forte componente genético para essa condição. Objetivo: O presente estudo teve como objetivo avaliar se os polimorfismos genéticos nos genes que codificam os receptores de estrógeno (ESR1 e ESR2) estão associados à ocorrrência de AD isolada em uma amostra brasileira. Métodos: Radiografias panorâmicas de 142 pacientes ortodônticos foram avaliadas para determinar AD de dentes permanentes (excluindo terceiros molares). O DNA dos pacientes foi extraído das células da mucosa bucal contidas na saliva para avaliar polimorfismos genéticos em ESR1 (rs2234693 e rs9340799) e ESR2 (rs1256049 e rs4986938) por genotipagem usando a técnica de PCR em tempo real. Para análises estatísticas, associações entre as distribuições dos alelos e genótipos e a ocorrrência de AD foram avaliadas para cada polimorfismo genético, com um alfa estabelecido de 5%. Resultados: Treze pacientes tiveram pelo menos 1 dente congenitamente ausente. O número de dentes congenitamente ausentes variou de 1 a 11. Os polimorfismos genéticos rs2234693 e rs9340799 no ESR1 e rs1256049 no ESR2 não foram associados à AD (p > 0,05). Para o polimorfismo genético rs4986938 no ESR2, as distribuições dos genótipos e dos alelos foram estatisticamente diferentes entre os pacientes com e sem AD (p < 0,05). O genótipo CC e o alelo C estavam super-representados nos pacientes com AD. Conclusão: Houve associação entre o polimorfismo genético rs4986938 no ESR2 e a ocorrrência de AD. ABSTRACT Introduction:Tooth agenesis (TA) is the congenital absence of teeth. Several studies have proposed a strong genetic background for this condition. Aim: The present cross-sectional study aimed to evaluate whether genetic polymorphisms in the genes that code for estrogen receptors (ESR1 and ESR2) are associated with the presence of isolated TA in a Brazilian sample. Methods: Panoramic radiographs of 142 orthodontic patients were assessed to determine TA of permanent teeth (excluding third molars). DNA of patients was extracted from buccal cells from saliva to evaluate genetic polymorphisms in ESR1 (rs2234693 and rs9340799) and ESR2 (rs1256049 and rs4986938) by genotyping using the real-time PCR technique. For statistical analyses, associations between the distributions of the alleles and genotypes, and the ocurrence of TA were assessed for each genetic polymorphism, with an established alpha of 5%. Results: Thirteen patients had at least 1 congenital missing tooth. The number of congenitally missing teeth ranged from 1 to 11. The genetic polymorphisms rs2234693 and rs9340799 in ESR1 and rs1256049 in ESR2 were not associated with TA (p > 0.05). For the genetic polymorphism rs4986938 in ESR2, the genotype and allele distributions were significantly different between the patients with and without TA (p < 0.05). The CC genotype and the C allele were overrepresented in the TA patients. Conclusion: The genetic polymorphism rs4986938 in ESR2 was associated with the ocurrence of TA.

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“…Phan et al investigated the previous literature and finally identified nine genomic loci and 26 candidate genes leading to the co‐occurrence of these two congenital defects (Phan et al, ). In addition, BMP2 , BMP4 , and WNT signaling‐related genes (i.e., WNT10A , WNT3 , AXIN2 ) had also been found in association with TA and NSCL/P (Gong et al, ; Lu et al, ; Song et al, ).…”

Section: Introductionmentioning

confidence: 99%

Non‐syndromic cleft lip with or without palate susceptible loci is associated with tooth agenesis

et al. 2019

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Objective Non‐syndromic tooth agenesis (NSTA) may share common genetic factors with non‐syndromic cleft lip with or without cleft palate (NSCL/P). Single‐nucleotide polymorphisms (SNPs) were associated with individual's susceptibility to these anomalies. We selected five NSCL/P‐associated SNPs from our previous genome‐wide association study (GWAS) to test for the associations with NSTA. Materials and methods A total of 677 NSTA cases and 1,144 healthy controls were recruited in this case–control study. Five genome‐wide NSCL/P‐associated SNPs (rs2235371, rs7078160, rs8049367, rs4791774, and rs13041247) were genotyped by TaqMan platform and evaluated for the associations with NSTA using plink software. Results No significant associations between these SNPs and risk of NSTA were observed in the overall analysis and subgroup analysis with the number of missing teeth. However, in the subgroup analysis by tooth position, rs8049367 was nominally associated with mandibular premolar agenesis (Dominant model: ORdom = 0.66, 95% CIdom = 0.47–0.93, pdom = 0.016; Heterozygote model: ORhet = 0.60, 95% CIhet = 0.41–0.88, Phet = 0.008). Rs4791774 showed a nominal association with congenitally missing maxillary canine (Dominant model: ORdom = 0.53, 95% CIdom = 0.28–0.98, pdom = 0.041; Heterozygote model: ORhet = 0.50, 95% CIhet = 0.26–0.97, Phet = 0.041) and premolar (Additive model: OR = 0.59, 95% CI = 0.36–0.96, p = 0.035). Conclusion This study showed that NSCL/P susceptible loci rs8049367 and rs4791774 were probably associated with the risk of NSTA.

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Genetic Variants of BMP2 and Their Association with the Risk of Non-Syndromic Tooth Agenesis

Cited by 19 publications

References 29 publications

Association between Tooth Agenesis and Skeletal Malocclusions

Association between Tooth Agenesis and Skeletal Malocclusions

Genetic polymorphism in esr2 and risk of tooth agenesis

Non‐syndromic cleft lip with or without palate susceptible loci is associated with tooth agenesis

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