Bayazit Yildirim A, Erdal Mehmet Emin, Yilmaz Metin, Ciftci Tansu Ulukavak, Soylemez Fatma, Gokdoğan Tuba, Kokturk Oguz, Kemaloglu Yusuf K, Koybasioglu Ahmet
Department of Otolaryngology, Faculty of Medicine, Gazi University, Besevler, Ankara, Turkey.
Laryngoscope. 2006 Nov;116(11):1962-5. doi: 10.1097/01.mlg.0000235933.74319.80.
The objective of this study was to assess significance of insulin receptor substrate (IRS) -1 gene polymorphism (Gly972Arg) at codon 972 in obstructive sleep apnea syndrome (OSAS).
Using the polymerase chain reaction technique, the codon 972 polymorphism of the IRS-1 gene was analyzed in the DNA obtained from leukocytes of 50 patients and 143 healthy controls.
An overall comparison between the genotypes and allele frequencies of the patients and controls did not reveal any statistically significant difference between the patients and controls (P > .05). Gender-specific comparisons were not significantly different except for a significant difference between the genotypes and allele frequencies of the male patients and male controls (P < .05). The heterozygous, Gly/Arg variant of the IRS-1 gene was overrepresented and the homozygous, Gly/Gly variant was less frequent in male patients compared with male controls. In the patients with OSAS, there was no correlation between the genotypes and polysomnography parameters on correlation analyses (P > .05). There was no relationship between the genotypes and diabetes mellitus (P > .05). Body mass indices and polysomnography parameters of the patients with and without diabetes mellitus were not significantly different (P > .05).
The polymorphism of the IRS-1 gene at codon 972, especially Gly/Arg variant, or the presence of the allele for Arg appears to be associated with occurrence of OSAS in male patients, whereas this polymorphism is not related to severity of OSAS.
本研究旨在评估胰岛素受体底物(IRS)-1基因第972密码子多态性(Gly972Arg)在阻塞性睡眠呼吸暂停综合征(OSAS)中的意义。
采用聚合酶链反应技术,对50例患者和143例健康对照者白细胞DNA中的IRS-1基因第972密码子多态性进行分析。
患者与对照者的基因型和等位基因频率总体比较未发现统计学上的显著差异(P>.05)。除男性患者与男性对照者的基因型和等位基因频率存在显著差异外(P<.05),按性别比较无显著差异。与男性对照者相比,男性患者中IRS-1基因的杂合子Gly/Arg变异体占比过高,而纯合子Gly/Gly变异体频率较低。在OSAS患者中,相关性分析显示基因型与多导睡眠图参数之间无相关性(P>.05)。基因型与糖尿病之间无关联(P>.05)。有糖尿病和无糖尿病患者的体重指数和多导睡眠图参数无显著差异(P>.05)。
IRS-1基因第972密码子多态性,尤其是Gly/Arg变异体,或Arg等位基因的存在似乎与男性患者OSAS的发生有关,而这种多态性与OSAS的严重程度无关。