ENPP1 and ESR1 genotypes influence temporomandibular disorders development and surgical treatment response in dentofacial deformities

Nicot, Romain; Vieira, Alexandre R.; Raoul, G.; Delmotte, Constance; Duhamel, Alain; Ferri, Joël; Sciote, James J.

doi:10.1016/j.jcms.2016.07.010

Cited by 28 publications

(28 citation statements)

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“…10,18 We also found differences in gene expression for PITX1 and PITX2 between left and right masseter muscle in asymmetry. 4 In this study, we explore associations between these genes and subclassifications of asymmetry.…”

Section: Introductionsupporting

confidence: 51%

“…49 We have recently reported that rs858339 has a significant association with the occurrence of preoperative TMD in our patient population. 18 ENPP1 rs858339 TT genotype associated with pretreatment absence of TMD and the AT genotype as a pretreatment risk factor for presence of TMD as determined by JPF scores. 18 In this study rs858399 has strong statistical association with the TMD diagnoses of disc displacement with reduction, masticatory muscle myalgia or arthralgia, further confirming its role in etiology (Table 5).…”

Section: Discussionmentioning

confidence: 99%

“…18 ENPP1 rs858339 TT genotype associated with pretreatment absence of TMD and the AT genotype as a pretreatment risk factor for presence of TMD as determined by JPF scores. 18 In this study rs858399 has strong statistical association with the TMD diagnoses of disc displacement with reduction, masticatory muscle myalgia or arthralgia, further confirming its role in etiology (Table 5). The association of ENPP1 to presence of TMD diagnoses or asymmetry group 3 is not yet informative as to the biological mechanisms responsible for occurrence.…”

Section: Discussionmentioning

confidence: 99%

“…10 Thirteen SNPs were selected for genotyping: in ACTN3 rs1815739, and rs678397 10 ; in ENPP1 rs937300, rs6569759, rs858339 and rs1409181 18,20–22 ; in ESR1 rs1643821, rs302318, rs3020377 and rs2077647 18,23–26 ; in PITX1 rs1131611 and in PITX2 rs2595110 4 to determine if specific allelic variants are over-represented in subjects with malocclusion sub-classifications. Thirty-three additional anonym SNPs were genotyped.…”

Section: Methodsmentioning

confidence: 99%

“…29 The questionnaire has been translated for use in Germanic, 30 and we prepared a French version for use in Lille, as a standard assessment of presence and severity of TMD. 18 …”

Section: Methodsmentioning

confidence: 99%

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ENPP1 and ESR1 genotypes associated with subclassifications of craniofacial asymmetry and severity of temporomandibular disorders

Chung

Richards

Nicot

et al. 2017

American Journal of Orthodontics and Dentofacial Orthopedics

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Introduction We investigated if ACTN3, ENPP1, ESR1, PITX1 and PITX2 genes which contribute to sagittal and vertical malocclusion also contribute to facial asymmetries and TMD before and after orthodontic and orthognathic surgery treatment. Methods One hundred seventy four dentofacial deformity patients were diagnosed as symmetric or subdivided into four asymmetric groups according to PA cephalometric measurements. TMD exam diagnosis and Jaw Pain and Function-(JPF) questionnaires assessed presence and severity of TMD. Results Fifty two % of patients were symmetric and forty eight % asymmetric. The asymmetry classification demonstrated significant cephalometric differences between symmetric and asymmetric groups, and across the four asymmetric subtypes: Group 1 - mandibular body asymmetry, Group 2 - ramus asymmetry, Group 3 - atypical asymmetry and Group 4 - “C-shaped” asymmetry. ENPP1 SNP-rs6569759 associated with asymmetry Group 1(p=0.004), and rs858339 with asymmetry Group 3 (p=0.002). ESR1 SNP-rs164321 associated with asymmetry Group 4 (p=0.019). These results are confirmed by Principal Component Analysis (PCA) that showed three principal components explaining almost 80% of the variation seen in the studied group. PC1 and PC2 were associated with ESR1 SNP-rs3020318 (p<0.05). Diagnoses of disc displacement with reduction, masticatory muscle myalgia and arthralgia were highly prevalent in the asymmetry groups and all had strong statistical association to ENPP1 rs858339. The average JPF scores for asymmetric subjects before surgery (JPF=7), were significantly higher than symmetric subjects (JPF=2). Patients with asymmetry Group 3 reported the highest preoperative JPF scores and Group 2 and 3 were most likely to be cured of TMD one year after treatment. Conclusions PA cephalometrics can classify asymmetry into distinct groups; identify probability of TMD and genotype associations. Orthodontic and orthognathic treatment of facial asymmetry is very effective at eliminating TMD in most patients.

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Section: Introductionsupporting

confidence: 51%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

“…29 The questionnaire has been translated for use in Germanic, 30 and we prepared a French version for use in Lille, as a standard assessment of presence and severity of TMD. 18 …”

Section: Methodsmentioning

confidence: 99%

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