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Purpose <p>To test the hypothesis that single nucleotide polymorphisms (SNPs) in the muscle-related genes actinin alpha&#xa0;3 (<i>ACTN3</i>), creatine kinase muscle (<i>CKM</i>), and angiotensin&#xa0;I converting enzyme (<i>ACE</i>) are associated with sleep bruxism (SB).</p> Methods <p>This study involved 45&#xa0;individuals diagnosed with SB through self-report questionnaires, clinical examination, and polysomnography. Deoxyribonucleic acid samples were collected, and three SNPs, rs1815739 in <i>ACTN3</i>, rs8111989 in <i>CKM</i>, and rs4341 in <i>ACE</i>, were selected for genotyping via real-time PCR. The associations between SB and SNPs were investigated with genotypic, allelic, recessive, and dominant models via the χ<sup>2</sup> test. Associations between SNPs and SB were estimated by odds ratios (ORs) with 95% confidence intervals (CIs), with significance considered when <i>p</i> &lt; 0.05.</p> Results <p>Sixteen individuals, 11&#xa0;males (68.7%) and 5&#xa0;females (31.3%), were diagnosed with SB. Another 29&#xa0;individuals (16&#xa0;males and 15&#xa0;females) without bruxism were included in the control group. For rs1815739, the CC genotype was associated with a&#xa0;high prevalence of SB (<i>p</i> = 0.032). In the recessive model, homozygous CC individuals presented 392% greater odds for SB than individuals with CT/TT (OR 4.92; 95%CI 1.29–18.73). No differences were observed for rs8111989 and rs4341 in the tested models (<i>p</i> &gt; 0.05).</p> Conclusion <p>Polymorphism rs1815739 in <i>ACTN3 </i>was associated with SB.</p>

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Role of muscle-related genes in sleep bruxism

  • 期刊论文

  • 发表日期：

    2025年12月30日

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  • Katia Raquel Weber,
  • Joyce Duarte,
  • Helena Polmann,
  • Patrícia Pauletto,
  • Jéssica Conti Réus,
  • Israel Silva Maia,
  • Juliana Feltrin Souza,
  • Marcia Regina Pincerati,
  • Erika Calvano,
  • Graziela De Luca Canto,
  • João Armando Brancher

摘要

Purpose

To test the hypothesis that single nucleotide polymorphisms (SNPs) in the muscle-related genes actinin alpha 3 (ACTN3), creatine kinase muscle (CKM), and angiotensin I converting enzyme (ACE) are associated with sleep bruxism (SB).

Methods

This study involved 45 individuals diagnosed with SB through self-report questionnaires, clinical examination, and polysomnography. Deoxyribonucleic acid samples were collected, and three SNPs, rs1815739 in ACTN3, rs8111989 in CKM, and rs4341 in ACE, were selected for genotyping via real-time PCR. The associations between SB and SNPs were investigated with genotypic, allelic, recessive, and dominant models via the χ2 test. Associations between SNPs and SB were estimated by odds ratios (ORs) with 95% confidence intervals (CIs), with significance considered when p < 0.05.

Results

Sixteen individuals, 11 males (68.7%) and 5 females (31.3%), were diagnosed with SB. Another 29 individuals (16 males and 15 females) without bruxism were included in the control group. For rs1815739, the CC genotype was associated with a high prevalence of SB (p = 0.032). In the recessive model, homozygous CC individuals presented 392% greater odds for SB than individuals with CT/TT (OR 4.92; 95%CI 1.29–18.73). No differences were observed for rs8111989 and rs4341 in the tested models (p > 0.05).

Conclusion

Polymorphism rs1815739 in ACTN3 was associated with SB.