Macek Piotr, Poreba Rafal, Gac Pawel, Bogunia-Kubik Katarzyna, Dratwa Marta, Wieckiewicz Mieszko, Wojakowska Anna, Michalek-Zrabkowska Monika, Mazur Grzegorz, Martynowicz Helena
Department of Internal Medicine, Occupational Diseases, Hypertension and Clinical Oncology, Wroclaw Medical University, 213 Borowska St., 50-556 Wroclaw, Poland.
Department of Population Health, Division of Environmental Health and Occupational Medicine, Wroclaw Medical University, Mikulicza-Radeckiego 7, 50-368 Wroclaw, Poland.
Biomedicines. 2022 Oct 30;10(11):2755. doi: 10.3390/biomedicines10112755.
Introduction: Obstructive sleep apnea (OSA) is a worldwide breathing disorder that has been diagnosed globally in almost 1 billion individuals aged 30−69 years. It is characterized by repeated upper airway collapses during sleep. Telomerase reverse transcriptase (TERT) is involved in the prevention of telomere shortening. This prospective, observational study aimed to investigate the relationship between single nucleotide polymorphisms (SNPs) of TERT and the severity of OSA, taking into account hypertension and diabetes prevalence. Methods: A total of 149 patients with OSA were diagnosed using one-night video-polysomnography based on the American Academy of Sleep Medicine guidelines. The TERT SNPs and telomere length (TL) were detected using real-time quantitative polymerase chain reaction. Results: Statistical analysis showed that there is no relationship between the rs2853669 and rs2736100 polymorphisms of TERT, and the severity of OSA (p > 0.05). Moreover, no relationship between TL and the severity of OSA was observed. The G allele in the locus of rs2736100 TERT was associated with hypertension prevalence and was more prevalent in hypertensives patients (46.00% vs. 24.49%, p = 0.011). The prevalence of hypertension was higher in patients with the C allele in the locus of rs2853669 than in patients without this allele (50.79% vs. 30.23%, p = 0.010). Moreover, a lower prevalence of diabetes was observed in homozygotes of rs2736100 TERT than in heterozygotes (5.63% vs. 15.38%, p = 0.039). Conclusion: This study showed no relationship between OSA and TERT SNPs. However, SNPs of the TERT gene (rs2736100 and rs2853669) were found to affect arterial hypertension and diabetes prevalence.
阻塞性睡眠呼吸暂停(OSA)是一种全球性的呼吸障碍,全球范围内已在近10亿30 - 69岁的个体中诊断出该病。其特征是睡眠期间上呼吸道反复塌陷。端粒酶逆转录酶(TERT)参与预防端粒缩短。本前瞻性观察性研究旨在探讨TERT单核苷酸多态性(SNP)与OSA严重程度之间的关系,并考虑高血压和糖尿病的患病率。方法:根据美国睡眠医学学会指南,通过一夜的视频多导睡眠图对149例OSA患者进行诊断。使用实时定量聚合酶链反应检测TERT SNP和端粒长度(TL)。结果:统计分析表明,TERT的rs2853669和rs2736100多态性与OSA严重程度之间无相关性(p>0.05)。此外,未观察到TL与OSA严重程度之间的关系。rs2736100 TERT位点的G等位基因与高血压患病率相关,在高血压患者中更常见(46.00%对24.49%,p = 0.011)。rs2853669位点具有C等位基因的患者高血压患病率高于无该等位基因的患者(50.79%对30.23%,p = 0.010)。此外,rs2736100 TERT纯合子的糖尿病患病率低于杂合子(5.63%对15.38%,p = 0.039)。结论:本研究表明OSA与TERT SNP之间无相关性。然而,发现TERT基因的SNP(rs2736100和rs2853669)会影响动脉高血压和糖尿病患病率。