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首页> 外文期刊>Sleep medicine >Genetic polymorphisms in endothelin-receptor-subtype-a-gene as susceptibility factor for obstructive sleep apnea syndrome.
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Genetic polymorphisms in endothelin-receptor-subtype-a-gene as susceptibility factor for obstructive sleep apnea syndrome.

机译：内皮素受体亚型a基因的遗传多态性作为阻塞性睡眠呼吸暂停综合征的易感因素。

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INTRODUCTION: Traits of obstructive sleep apnea syndrome (OSAS) such as impaired ventilatory control, craniofacial abnormalities, and concomitant cardiovascular diseases are associated with modified endothelin-1 gene (EDN-1) or endothelin-receptor-subtype-a (EDNRA) gene. The endothelin system regulates the cardiovascular homeostasis. EDN-1 interacts mainly with EDNRA for signal transduction. In our study we investigate associations of EDNRA-polymorphisms (four frequent polymorphisms with an allele frequency >5%) and OSAS severity. METHODS: Three hundred ninety-three patients older than 18years, of Caucasian origin and with OSAS (AHI>5/h and daytime sleepiness) were investigated by cardiorespiratory polysomnography. In addition 58 control subjects with healthy sleep were recruited from nearly 300 volunteers. We analysed the EDNRA-polymorphisms E335E, H323H, G-231A and G+70C by polymerase-chain-reaction, restriction-fragment-length-polymorphism and real-time-PCR. RESULTS: Carrier of the mutant G-231A allele had a significantly lower AHI (p=0.03, OR 0.53, 95% CI 0.3-0.94) when comparing patients and controls. When comparing OSAS severity groups without controls we could not detect significant correlations for the four investigated EDNRA-polymorphisms. Our data confirm that BMI (p<0.001) and male gender (p=0.02) are significantly associated with AHI. The allele frequencies were similar. DISCUSSION: The genetic investigation of OSA remains important. Our control group was relatively small and we investigated 4 reasonable candidates out of more than 100 EDNRA-polymorphisms. The detected protective effect of the mutant G-231A allele needs further confirmation. Gene based research in OSAS should use genome wide scan and should still consider the endothelin system.
机译：简介：阻塞性睡眠呼吸暂停综合症（OSAS）的特征，如通气控制受损，颅面异常和伴随的心血管疾病，与修饰的内皮素1基因（EDN-1）或内皮素受体亚型a（EDNRA）基因有关。内皮素系统调节心血管稳态。 EDN-1主要与EDNRA相互作用以进行信号转导。在我们的研究中，我们研究了EDNRA多态性（等位基因频率> 5％的四种常见多态性）与OSAS严重性的关联。方法：通过心肺多导睡眠图监测了393名年龄在18岁以上，高加索血统和OSAS（AHI> 5 / h和白天嗜睡）的患者。另外，从近300名志愿者中招募了58名健康睡眠的对照受试者。我们通过聚合酶链反应，限制性片段长度多态性和实时荧光定量PCR分析了EDNRA多态性E335E，H323H，G-231A和G + 70C。结果：与患者和对照组比较时，突变G-231A等位基因的携带者的AHI显着降低（p = 0.03，OR 0.53，95％CI 0.3-0.94）。当比较没有对照的OSAS严重程度组时，我们无法检测到四个研究的EDNRA多态性之间的显着相关性。我们的数据证实BMI（p <0.001）和男性（p = 0.02）与AHI显着相关。等位基因频率相似。讨论：OSA的基因研究仍然很重要。我们的对照组相对较小，我们从100多个EDNRA多态性中调查了4个合理的候选者。检测到的突变体G-231A等位基因的保护作用需要进一步证实。 OSAS中基于基因的研究应使用全基因组扫描，并且仍应考虑内皮素系统。

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