瘦素受体基因Pro1019Pro多态性与阻塞性睡眠呼吸暂停低通气综合征相关性研究

目的探讨瘦素受体基因第20位外显子3057位Pro1019Pro变异与阻塞性睡眠呼吸暂停低通气综合征(OSAHS)患病的相关性。方法采用聚合酶链反应-限制性片段多态性(PCR-RFLP)法,测定360例无亲缘关系的中国北方汉族居民瘦素受体基因Pro1019Pro的基因型(其中OSAHS组180例,健康对照180例),并分析差异性。结果 AA、GA、GG基因型及等位基因频率分布在OSAHS组与对照组中无显著差异(P>0.05),OSAHS组中各基因型个体比较,颈围、腹围、PSG等各项监测指标均无显著差异(P>0.05)。结论瘦素受体基因Pro1019Pro的单一变异在北方汉族居民OSAHS的发生中可能无明显作用。

Correlation between leptin receptor gene Pro1019Pro polymorphisms and obstructive sleep apnea hypopnea syndrome

Objective To investigate the relationship between the leptin receptor gene Pro1019Pro polymorphism and obstructive sleep apnea hypopnea syndrome(OSAHS).Methods The genotypes of leptin receptor gene Pro1019Pro were detected by polymerase chain reaction-restriction fragment length polymorphisms(PCR-RFLP) in 360 unrelated subjects in the Northern Han population(including 180 OSAHS subjects and 180 healthy controls).The difference was analyzed.Results There was no significant difference in genotypes and allele frequencies between the OSAHS and control group(P>0.05).The differences in neck circumference,abdominal circumference,and polysomnography(PSG) were not significantly different among the three genotypes(P>0.05).Conclusion It is unlikely that the leptin receptor gene Pro1019Pro polymorphism contributes to the pathogenesis of OSAHS.