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目的 探讨肾上腺素能受体(ADR)基因多态性与阻塞性睡眠呼吸暂停低通气综合征(OSAHS)发病的关系。方法 采用PCR 限制性长度多态性法测165例无亲缘关系的中国北方汉族男性OSAHS者与153例对照者的β2 ADR和β3 ADR基因多态性的基因型,并分析基因型分布、等位基因频率差异、基因多态性与OSAHS者肥胖表型、睡眠呼吸紊乱指数、血压的关系。结果 OSAHS者β3 ADR基因多态性的基因型分布和等位基因频率与对照者存在明显差异(χ2 分别为10 434和12 742,P值分别为0 006和0 004),β2 ADR基因多态性的基因型分布和等位基因频率与对照者无明显差异(χ2 分别为1 406和0 809,P值分别为0 465和0 382);OSAHS者β3 ADR基因多态性Arg等位基因携带者的体重指数、颈围、腰臀比、睡眠呼吸紊乱指数、收缩压明显高于非携带者(P值分别为0 019、0 025、0 012、0 032和0 035),经协方差分析校正后,Arg等位基因携带者的收缩压与非携带者比较,差异无统计学意义(P=0 097)。结论 β3 ADR基因多态性可能通过参与中心型肥胖而导致中国北方汉族男性的OSAHS;可能通过肥胖及睡眠呼吸暂停间接引发OSAHS者的高血压形成;β2 ADR基因多态性可能不参与中国北方汉族男性中心型肥胖及OSAHS的形成。
Objective To investigate the relationship between adrenergic receptor (ADR) gene polymorphism and the pathogenesis of obstructive sleep apnea-hypopnea syndrome (OSAHS). Methods Genotypes of β2 ADR and β3 ADR polymorphisms in 165 unanswered Han Chinese male OSAHS patients and 153 controls were analyzed by PCR restriction fragment length polymorphism (PCR-RFLP). The distribution of genotypes, alleles Gene frequency differences, gene polymorphisms and OSAHS obesity phenotype, sleep disordered breathing index, blood pressure. Results There was a significant difference in genotype distribution and allele frequencies of β3 ADR polymorphism between OSAHS and controls (χ2 = 10 434 and 12 742, P = 0 006 and 00 004, respectively) Sex genotype distribution and allele frequencies were not significantly different from those of controls (χ2 = 1 406 and 0 809, respectively, P values were 0 465 and 0 382, respectively); OSAHS β3 ADR polymorphism Arg allele Body mass index, neck circumference, waist-hip ratio, sleep-disordered breathing index and systolic blood pressure were significantly higher than those without carriers (P 0,019,0 025,0 012,0 032 and 0 035, respectively) After adjustment, there was no significant difference in systolic blood pressure between carriers of Arg allele and non-carriers (P = 0 097). Conclusion The polymorphism of β3 ADR may lead to OSAHS in Han males in northern China through participation in central obesity. It may induce hypertension in OSAHS indirectly through obesity and sleep apnea. The polymorphism of β2 ADR may not be involved in the pathogenesis of Han ethnicity in northern China Male central obesity and OSAHS formation.