Otorhinolaryngology and Head & Neck Surgery Department, FAMERP.
Braz J Otorhinolaryngol. 2011 Jun;77(3):348-55. doi: 10.1590/s1808-86942011000300013.
Obstructive sleep apnea syndrome (OSAS) is one of the most complex disorders of sleep; it involves several genetic factors that contribute to the phenotype. Serotonin (5-HT) regulates a variety of visceral and physiological functions, including sleep. Gene 5-HTR2A polymorphisms may change the transcription of several receptors in the serotoninergic system, thereby contributing to OSAS.
To investigate the prevalence of T102C and -1438G/A polymorphisms in the 5-HTR2A gene of patients with and without OSAS.
A molecular study of 100 index-cases and 100 controls of both genders. DNA was extracted from blood leukocytes samples and the regions that enclose both polymorphisms were amplified with PCR-RFLP.
A cross-sectional case study.
There was a significant prevalence of males in index cases compared to controls (p<0.0001). No significant genotypic differences between cases and controls were found in T102C polymorphisms (p=1.000).There were significant differences between the AA genotype of -1438G/A polymorphisms and patients with OSAS (OR:2.3; CI95%:1.20-4.38, p=0.01).
Serotonergic mechanisms may be related to OSAS. There were no differences in the prevalence of T102C polymorphisms in patients with OSAS and the control group. There is evidence of an association between the -1438G /A polymorphism and OSAS.
阻塞性睡眠呼吸暂停综合征（OSAS）是睡眠中最复杂的疾病之一；它涉及到几个遗传因素，这些因素促成了表型。血清素（5-HT）调节多种内脏和生理功能，包括睡眠。5-HTR2A 基因的多态性可能改变 5-羟色胺能系统中几种受体的转录，从而导致 OSAS。
研究 5-HTR2A 基因 T102C 和-1438G/A 多态性在 OSAS 患者和非 OSAS 患者中的发生率。
对 100 例男女指数病例和 100 例对照进行分子研究。从血液白细胞样本中提取 DNA，并使用 PCR-RFLP 扩增包含这两种多态性的区域。
横断面病例研究。
与对照组相比，指数病例中男性的比例明显较高（p<0.0001）。T102C 多态性在病例和对照组之间没有发现显著的基因型差异（p=1.000）。-1438G/A 多态性的 AA 基因型与 OSAS 患者之间存在显著差异（OR：2.3；95%CI：1.20-4.38，p=0.01）。
5-羟色胺能机制可能与 OSAS 有关。OSAS 患者与对照组 T102C 多态性的发生率无差异。-1438G/A 多态性与 OSAS 之间存在关联的证据。
