Department of Experimental Dentistry, Wroclaw Medical University, 26 Krakowska St., 50-425, Wroclaw, Poland.
Laboratory of Clinical Immunogenetics and Pharmacogenetics, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, 12 R. Weigla St., 53-114, Wroclaw, Poland.
Sci Rep. 2020 May 4;10(1):7497. doi: 10.1038/s41598-020-64615-y.
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.
睡眠磨牙症 (SB) 和阻塞性睡眠呼吸暂停 (OSA) 是同时发生的睡眠病症。本研究旨在评估发生在血清素和多巴胺途径基因内的选定单核苷酸多态性 (SNP) 与 SB 和 OSA 之间的关联，并研究它们之间的关系。研究组包括 100 名白种人患者。分别在 74 名和 28 名患者中诊断出 SB 和 OSA。此外，125 名无关的白种人健康献血者被随机选择作为对照，以比较多态性。分析了以下 SNP：编码血清素受体的基因（HTR2A）中的 rs2770304 和 rs6313，儿茶酚-O-甲基转移酶（COMT）基因中的 rs4680 多态性，以及编码多巴胺受体（DRD1）的基因中的 rs686。与对照组相比，研究组中 DRD1 rs686 G 变体（GG 纯合）的患病率较高。与杂合子患者相比，HTR2A rs6313 TT 纯合子的磨牙症发作指数（BEI）明显增加。此外，在 HTR2A rs2770304 TT 纯合子组中，BEI 与呼吸暂停-低通气指数之间存在显著的相关性。这些结果表明，DRD1 rs686 可能潜在地影响 SB 的易感性，HTR2A rs6313 SNP 可能参与 SB 的发病机制，HTR2A rs2770304 多态性可能有助于 SB 和 OSA 之间的关联。这表明原发性 SB 的病因可能存在遗传贡献。
