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Genetic basis of sleep bruxism and sleep apnea-response to a medical puzzle.

ABSTRACT: Sleep bruxism (SB) and obstructive sleep apnea (OSA) are co-occurring sleep conditions. The study aimed to evaluate the association of selected single-nucleotide polymorphisms (SNPs) occurring within the genes of the serotonin and dopamine pathways in SB and OSA and investigate the relationship between them. The study group included 100 Caucasian patients. SB and OSA were diagnosed in 74 and 28 patients, respectively. In addition, 125 unrelated Caucasian healthy blood donors served as randomly selected controls to enable comparison of polymorphisms. The following SNPs were analyzed: rs2770304 and rs6313 within the serotonin receptor encoding gene (HTR2A), rs4680 polymorphism of the catechol-O-methyltransferase (COMT) gene, and rs686 within the dopamine receptor (DRD1) encoding gene. The prevalence of the DRD1 rs686 G variant (GG homozygosity) was found to be high in the study group compared to the control group. Bruxism episode index (BEI) was found to be significantly increased in the HTR2A rs6313 TT homozygotes compared to the heterozygous patients. Moreover, within a group of the HTR2A rs2770304 TT homozygous cases, a statistically significant correlation was observed between BEI and apnea-hypopnea index. These results indicate that DRD1 rs686 may potentially affect predisposition to SB, that HTR2A rs6313 SNP may be involved in SB pathogenesis, and that HTR2A rs2770304 polymorphism might contribute to the association between SB and OSA. This suggests a possible genetic contribution to the etiology of primary SB.

SUBMITTER: Wieckiewicz M

PROVIDER: S-EPMC7198562 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Genetic basis of sleep bruxism and sleep apnea-response to a medical puzzle.

Wieckiewicz Mieszko M Bogunia-Kubik Katarzyna K Mazur Grzegorz G Danel Dariusz D Smardz Joanna J Wojakowska Anna A Poreba Rafal R Dratwa Marta M Chaszczewska-Markowska Monika M Winocur Efraim E Emodi-Perlman Alona A Martynowicz Helena H

Scientific reports 20200504 1

Sleep bruxism (SB) and obstructive sleep apnea (OSA) are co-occurring sleep conditions. The study aimed to evaluate the association of selected single-nucleotide polymorphisms (SNPs) occurring within the genes of the serotonin and dopamine pathways in SB and OSA and investigate the relationship between them. The study group included 100 Caucasian patients. SB and OSA were diagnosed in 74 and 28 patients, respectively. In addition, 125 unrelated Caucasian healthy blood donors served as randomly s ...[more]

PMID: 32367059

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Project description:Study objectivesSleep bruxism is characterized by rhythmic masticatory muscle activity (RMMA). This study aimed to determine the number and type of jaw muscles needed for a valid RMMA scoring in individuals with obstructive sleep apnea.MethodsTen individuals with obstructive sleep apnea (4 males; age, 50.1 ± 8.1 years) were included in this study. RMMA was scored using 1 or more of the following jaw muscles' electromyography (EMG) traces of polysomnography recordings: bilateral masseter and temporalis (4MT; the reference standard), unilateral masseter (1M), bilateral masseter (2M), unilateral temporalis (1T), bilateral temporalis (2T), unilateral chin EMG (1C), and bilateral chin EMG (2C).Results1M, 2M, 1T, and 2T showed excellent agreement with 4MT (intraclass correlation coefficient = 0.751, 0.976, 0.815, and 0.950, respectively), while 1C and 2C presented fair agreement (intraclass correlation coefficient = 0.662 and 0.657). In addition, 2M and 2T displayed good sensitivity (87.8% and 72.0%) and positive predictive value (83.1% and 76.0%). In contrast, 1M and 1T had good sensitivity (88.4% and 87.8%) but fair positive predictive value (60.1% and 53.2%). 1C and 2C showed poor sensitivity (41.1% and 40.3%) and fair positive predictive value (62.9% and 60.6%).ConclusionsPolysomnography with bilateral masseter or temporalis muscle EMG traces is regarded valid in RMMA scoring in individuals with obstructive sleep apnea. In contrast, unilateral masseter or temporalis muscle EMG showed only fair accuracy, and chin EMG had poor accuracy. Consequently, these montages cannot be recommended for RMMA scoring in the presence of obstructive sleep apnea.Clinical trial registrationRegistry: ClinicalTrials.gov; Name: The Effects of Oral Appliance Therapy on Masseter Muscle Activity in Obstructive Sleep Apnea; URL: https://clinicaltrials.gov/ct2/show/NCT02011425; Identifier: NCT02011425.CitationLi D, Aarab G, Lobbezoo F, Arcache P, Lavigne GJ, Huynh N. Accuracy of sleep bruxism scoring based on electromyography traces of different jaw muscles in individuals with obstructive sleep apnea. J Clin Sleep Med. 2022;18(6):1609-1615.

Project description:BackgroundThe gold standard for diagnosing sleep bruxism (SB) and obstructive sleep apnea (OSA) is polysomnography (PSG). However, a final hypermotor muscle activity often occurs after apnea episodes, which can confuse the diagnosis of SB when using portable electromyography (EMG) devices. This study aimed to compare the number of SB episodes obtained from PSG with manual analysis by a sleep expert, and from a manual and automatic analysis of an EMG and electrocardiography (EKG) device, in a population with suspected OSA.MethodsTwenty-two subjects underwent a polysomnographic study with simultaneous recording with the EMG-EKG device. SB episodes and SB index measured with both tools and analyzed manually and automatically were compared. Masticatory muscle activity was scored according to published criteria. Patients were segmented by severity of OSA (mild, moderate, severe) following the American Academy of Sleep Medicine (AASM) criteria. ANOVA and the Bland-Altman plot were used to quantify the agreement between both methods. The concordance was calculated through the intraclass correlation coefficient (ICC).ResultsOn average, the total events of SB per night in the PSG study were (8.41 ± 0.85), lower than the one obtained with EMG-EKG manual (14.64 ± 0.76) and automatic (22.68 ± 16.02) analysis. The mean number of SB episodes decreases from the non-OSA group to the OSA group with both PSG (5.93 ± 8.64) and EMG-EKG analyses (automatic = 22.47 ± 18.07, manual = 13.93 ± 11.08). However, this decrease was minor in proportion compared to the automatic EMG-EKG analysis mode (from 23.14 to 22.47). The ICC based on the number of SB episodes in the segmented sample by severity degree of OSA along the three tools shows a moderate correlation in the non-OSA (0.61) and mild OSA (0.53) groups. However, it is poorly correlated in the moderate (0.24) and severe (0.23) OSA groups: the EMG-EKG automatic analysis measures 14.27 units more than PSG. The results of the manual EMG-EKG analysis improved this correlation but are not good enough.ConclusionsThe results obtained in the PSG manual analysis and those obtained by the EMG-EKG device with automatic and manual analysis for the diagnosis of SB are acceptable but only in patients without OSA or with mild OSA. In patients with moderate or severe OSA, SB diagnosis with portable electromyography devices can be confused due to apneas, and further study is needed to investigate this.

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Genetic basis of sleep bruxism and sleep apnea-response to a medical puzzle.

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Genetic basis of sleep bruxism and sleep apnea-response to a medical puzzle.

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