阻塞性睡眠呼吸暂停低通气综合征与瘦素受体基因Pro1019 Pro变异的关系及其危险因素分析  

Correlation analysis between obstructive sleep apnea hypopnea syndrome with leptin receptor gene pro1019 pro polymorphisms and other risk factors

作　　者：高春艳[1] 刘运秋[1] 

机构地区：[1]河北联合大学附属开滦医院呼吸内科,063000

出　　处：《中国现代医学杂志》2013年第8期76-80,共5页China Journal of Modern Medicine

摘　　要：目的探讨阻塞性睡眠呼吸暂停低通气综合征(OSAHS)与瘦素受体基因第20位外显子3057位G→A变异(Pro1019 Pro)的关系,并对OSAHS与其发病危险因素进行相关性分析。方法采用聚合酶链反应-限制性片段多态性法(PCR-RFLP)测定360例无亲缘关系的中国北方汉族居民瘦素受体Pro1019 Pro的基因型(其中OSAHS组180例,对照组180例),比较3个基因型的颈围、腹围、腰臀比等差异并进行问卷调查。结果 GG、GA、AA 3种基因型及等位基因频率分布在OSAHS组与对照组中差异均无统计学意义(P>0.05),OSAHS组中各基因型个体比较,颈围、腹围、睡眠监测等各项指标差异均无统计学意义(P>0.05);有吸烟史、打鼾家族史、上气道结构异常、颈围增大者在OSAHS组中比例明显高于对照组。结论瘦素受体基因Pro1019 Pro的单一变异在北方汉族居民OSAHS的发生中可能无明显作用;年龄、男性、颈围增大、吸烟、打鼾家族史、上气道结构异常为OSAHS的易患因素,它们能增加OSAHS的患病风险。[ Objective] To investigate the relationship of the variation 3057 G-~A of exon 20 of leptin receptor gene （Pro1019 Pro） and other risk factors with obstructive sleep apnea hypopnea syndrome. [Meth- ods] The genotypes of leptin receptor gene Pro1019 Pro were detected by polymerase chain reaction-restric- tion fragment length polymorphisms （PCR-RFLP） in 360 unrelated subjeces in North region Han Population （including 180 OSAHS subjects and 180 healthy controls）, neck circumference, abdominal circumference and waist-to-hip were compared among the three genotype, questionnaire surveys were conducted. [Results] There are no significant difference of Genotypes and allele frequencies in the OSAHS group and the control group （P 〉0.05）; neck circumference, abdominal circumference, polysomnography （PSG） were not significant difference in three genotypes （P〉0.05）. The ratio of subjects with smoking history, family history of snoring, upper air- way abnormalities and neck circumference increased in OSAHS group was significantly higher than that of in control group. [Conclusion] It is unlikely that the leptin receptor gene Pro1019 Pro polymorphism may con- tribute to the pathogenesis of OSAHS of North region Han population. Age, increased neck circumference, smoking, family history of snoring and upper airway structural abnormalities were the risk factors of OSAHS. They could increase the risk of OSAHS.

关 键 词：阻塞性睡眠呼吸暂停低通气综合征 瘦素受体 基因多态性 

分 类 号：R766[医药卫生—耳鼻咽喉科]