β_2和β_3肾上腺素能受体基因多态性与阻塞性睡眠呼吸暂停低通气综合征的关系  

Polymorphisms in the β_2 and β_3 adrenergic receptor genes in obstructive sleep apnea/hypopnea syndrome

作　　者：张立强[1] 姚婉贞[1] 何权瀛[2] 王玉柱[1] 任斌[1] 林亚萍[1] 

机构地区：[1]北京大学第三医院呼吸科,100083 [2]北京大学人民医院呼吸科

出　　处：《中华内科杂志》2005年第5期333-336,共4页Chinese Journal of Internal Medicine

摘　　要：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 association of polymorphisms in the β_2 and β_3 adrenergic receptor(β_2-ADR and β_3-ADR) genes with obstructive sleep apnea/hypopnea syndrome(OSAHS) Methods The genotypes and alleles of β_2-ADR and β_3-ADR genes were identified by polymerase chain reaction-restricted fragment length polymorphism assay in 318 unrelated subjects of North region Han population of China(including 165 male OSAHS subjects and 153 male non-OSAHS subjects) The genotypes and allele frequencies of the polymorphisms were compared between OSAHS group and non-OSAHS group The effects of the polymorphisms in OSAHS group on body mass index(BMI), neck circumference(NC), waist/hip rate(WHR), apnea-hypopnea index(AHI), systolic blood pressure(SBP), diastolic blood pressure(DBP) were analyzed Results There were significant differences in genotypes distribution in β_3 -ADR polymorphism between the two groups(χ 2=10 434, P =0 006). Compared with the control group, OSAHS group had significantly higher Arg allele frequency in β_3 -ADR polymorphism(χ 2=12 742, P =0 004). There were independent effects of β_3-ADR polymorphism on BMI, NC, WHR in OSAHS group; carriers of the Arg allele of β_3 -ADR polymorphism had greater BMI, NC, and WHR( P =0 019,0 025,0 012), while the carriers of the Arg allele had greater AHI and SBP( P = 0 032,0 035),but after adjusted for BMI,AHI and age,there were no differences in SBP between the carriers and non-carriers of Arg allele( P =0 097). There were no significant differences in the genotypes and allele frequencies in β_2 -ADR polymorphism between the two groups(χ 2=1 406 and 0 809, P =0 465 and 0 382) Conclusion β_3-ADR polymorphism may be involved in the development of central obesity and may be related to OSAHS by the central obesity in male OSAHS subjects of North region Han population of China, and may be induce hypertension in OSAHS patients of the population indirectly through obesity and sleep apnea On the contrary, β_2-ADR p

关 键 词：β2肾上腺素 β3肾上腺素 受体基因 基因多态性 阻塞性睡眠呼吸暂停低通气综合征 OSAHS 基因型 

分 类 号：R56[医药卫生—呼吸系统]