PC-1基因K121Q多态性与OSAHS相关性研究

Association of the K121Q polymorphism of the plasma cell glycoprotein-1(PC-1) gene and OSAHS

目的:探讨浆细胞膜糖蛋白1(plasma cell membrane glycoprotein-1,PC-1)基因K121Q多态性与中国汉族人的阻塞性睡眠呼吸暂停低通气综合征(obstructive sleep apnea hypopnea syndrome,OSAHS)发病关系。方法:应用聚合酶链反应和限制性片段长度多态性方法,对入选上海地区420例汉族OSAHS患者和190例对照组进行PC-1基因K121Q多态性分型及研究;分析OSAHS患者K121Q多态性与其临床指标(血压、生化指标、人体测量学等)的关系和与高脂血症的危险因素之间的关系。结果:OSAHS患者和对照组PC-1基因K121Q多态性基因型及等位基因频率差异无统计学意义(P>0.05);不同性别和严重程度的OSAHS患者与对照组的基因型频率分布、等位基因频率分布差异无统计学意义(P>0.05);OSAHS患者不同基因型间ApoA-1的协方差分析显示差异有统计学意义(P=0.006)。不同基因型的OSAHS患者中伴高脂血症的患者差异无统计学意义(OR=0.935,P=0.786,95%CI为0.575～1.520)。结论:PC-1基因K121Q多态性与OSAHS发病无关,与不同性别OSAHS发病及OSAHS严重程度无关。121Q等位基因不是OSAHS患者发生高脂血症的风险因素,但121Q等位基因的OSAHS患者的ApoA-1水平显著增高。

Objective： To investigate the relationship between K121Q polymorphisms of the PC-1 gene and obstructive sleep apnea hypopnea syndrome（OSAHS）.Methods： 420（357 male and 63 female） patients with OSAHS and 190（151 male and 39 female） without OSAHS volunteers were included for genetic analyses of K121Q polymorphism of the PC-1 gene.K121Q polymorphism was analyzed by PCR-based restriction fragment length polymorphism.Blood pressure,biochemical measurements and anthropometric measurements were collected and determined from the different genotypes in the OSAHS.The risk of hyperlipidemia in the OSAHS was also analyzed.Results： The genotypes and allele frequencies of the patients and controls did not reveal any statistically significant difference between the patients and controls（P0.05）.Gender-specific and AHI-specific comparisons were not significantly different between the patients and controls（P0.05）.In the patients with OSAHS,121Q subjects had higher levels of ApoA-1（P=0.006）,by the general linear model adjusted for covariates） compared with K121K subjects.However,the Ala allele was no significantly associated with the presence of combined hyperlipidaemia（OR=0.935,P=0.786,95%CI 0.575-1.520） in the subjects with OSAHS in this sample set.Conclusion： The study suggests that K121Q polymorphism of the PC-1 gene is not associated with OSAHS.K121Q polymorphism of the PC-1 gene do not increase the risk of hyperlipidaemia in subjects with OSAHS,but is associated with higher ApoA-1 occurrence.