血清瘦素水平及瘦素受体基因Gln223Arg多态性与阻塞性睡眠呼吸暂停低通气综合征的关系

目的　比较阻塞性睡眠呼吸暂停低通气综合征（OSAHS）患者和对照组之间血清瘦素（Leptin，Lep）水平的差异，分析瘦素受体（Leptin receptor，Lepr）基因Gln223Arg各基因型的分布特征和等位基因频率，探讨其多态性与OSAHS易感性之间的关系。方法　选取经多导睡眠（PSG）监测的OSAHS患者为病例组（221例），分为肥胖OSAHS组（107例），非肥胖OSAHS组（114例），同期查体的健康人为对照组（213例），分为肥胖对照组（110例）及正常对照组（103例）。所有受试者均抽血检测血清Lep水平，并做Lepr基因组DNA的提取和基因型分析。结果　Lep水平，非肥胖OSAHS组患者（13.59±5.01）μg/L和肥胖对照组患者（13.10±1.87）μg/L均较正常对照组升高，但两者之间比较无差异，当OSAHS合并肥胖后Lep水平明显升高（19.01±3.43）μg/L，与其他3组相比，差异显著。4组Lepr基因Gln223Arg的基因型及等位基因频率的比较，差异无统计学意义，但GG基因型患者颈围大于AA/AG患者。结论　OSAHS患者Lep水平显著高于对照人群，当合并肥胖时，Lep水平显著升高。Lepr基因Gln223Arg多态性与OSAHS的发病无关，但可能调节OSAHS患者颈部脂肪的分布。

Relationship of levels of Leptin and Leptin receptor gene Gln223Arg in patients with obstructive sleep apnea hypopnea syndrome

ABSTRACT]OBJECTIVETo compare the difference of serum Leptin between obstructive sleep apnea hypopnea syndrome (OSAHS) patients and the control group, to analyze the genotype distribution and allele frequency of Leptin receptor gene Gln223Arg in OSAHS patients. To discuss the relationship between the gene polymorphism and OSAHS susceptibility.METHODSOSAHS group(221 cases) and control group (213 cases) were divided into obese OSAHS group (107 cases), non-obese OSAHS group (114 cases), obese control group (110 patients) and normal control group (103 cases). All participants were tested the level of serum Leptin after monitoring by polysomnography (PSG). The genomic DNA of Leptin receptor gene was extracted and the genotype was analyzed.RESULTSThe level of serum Leptin in non-obese OSAHS patients was 13.59±5.01μg/L and (13.10±1.87)μg/L in obese control patients. They were higher than that in normal control group, but there were no significant difference among them. The level of Leptin in obese OSAHS group was(19.01±3.43)μg/L, that was significantly higher than that in other three groups. Leptin receptor gene Gln223Arg genotype and allele frequency had no significant difference among the 4 groups. But neck circumference of GG genotype patients was greater than that of AA/AG patients.CONCLUSIONThe level of serum Leptin in obese OSAHS patients is significantly higher than that in control group. There is no relations between the gene polymorphism of two sites in Leptin receptor gene Gln223Arg and the onset of OSAHS. But Gln223Arg variation may be involved in regulating the OSAHS patients' neck fat distribution.