中国呼吸与危重监护杂志

中国呼吸与危重监护杂志

瘦素受体基因 Gln223Arg 多态性与西南地区汉族人群阻塞性睡眠呼吸暂停低通气综合征的关系

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目的 探讨西南地区汉族人群瘦素受体基因 Gln223Arg 多态性与阻塞性睡眠呼吸暂停低通气综合征 (OSAHS) 之间的关系。 方法 选取西南地区汉族人群 215 例(其中 OSAHS 组 116 例,健康对照组 99 例);用聚合酶链反应(PCR)分析研究对象瘦素受体基因 Gln223Arg 多态性;双抗体酶联免疫吸附试验(ELISA)法测定瘦素(LEP)、真胰岛素(TI),同时测定体重指数(BMI)、颈围(NC)、腰围(WC)。 结果 OSAHS 组116 例 中,瘦素受体基因 Gln223Arg 多态性的 GG、AA、GA 的基因型频率表达分别为 0.854、0.017、0.129,G 等位基因频率为 0.918;A 等位基因频率为 0.082。对照组中,瘦素受体基因 Gln223Arg 多态性的 GG、AA、GA 的基因型频率表达分别为 0.840、0.020、0.14;G 等位基因频率为 0.90;A 等位基因频率为 0.10。两组基因型频率比较差异无统计学意义(χ2=0.784,P>0.05)。Gln223Arg 基因多态性的 GG 基因型 OSAHS 患者与(GA+AA)基因型 OSAHS 患者 BMI、WC、NC 比较差异有统计学意义(均P <0.05)。对照组及轻、中、重度 OSAHS 组血清 LEP、TI 水平逐渐升高,各组间比较差异均有统计学意义(均 P <0.05)。 结论 瘦素受体基因型 Gln223Arg 多态性可能参与肥胖的发生,但与西南地区汉族人群 OSAHS 的发病无关;OSAHS 患者 Gln223Arg 多态性与 LEP、TI 无关。OSAHS 患者存在高瘦素血症、高胰岛素血症。

Objective To investigate the relatingship between leptin receptor gene Gln223Arg polymorphism and obstructive sleep apnea hyponea syndrome (OSAHS) in Han population in Southwest China. Methods Two hundred and fifteen cases of subjects (including 116 cases in OSAHS group and 99 cases in control group) were selected in Han population in Southwest China. Polymerase chain reaction (PCR) was used to analyse Gln223Arg leptin receptor gene polymorphism. The levels of serum LEP and TI were determined by double antibody sandwich enzyme-linked immunosorbent assay (ELISA). Simultaneous determination of body mass index (BMI) and neck circumference (NC) and waist circumference (WC) were conducted. Results In the OSAHS group, the leptin receptor gene polymorphism Gln223Arg GG, AA and GA genotype frequency was 0.854, 0.017 and 0.129, respectively. G allele and A allele frequency frequency was 0.918 and 0.082, respectively. In the control group, leptin receptor gene polymorphisms Gln223Arg GG, AA and GA genotype frequency was 0.840, 0.020 and 0.14,respectively. G allele and A allele frequency was 0.90 and 0.10, respectively. Genotype frequencies of the two groups were not statistically significant (χ2=0.784, P>0.05). There were differences in BMI, WC and NC between the OSAHS patients with GG and the OSAHS patients with (GA+AA) genotype (P<0.05), but no difference was found in LEP and TI levels (allP>0.05). In control, mild, moderate and severe OSAHS group, the levels of serum LEP and TI were increased gradually, and the difference was statistically significant (allP<0.05). Conclusions Gln223Arg leptin receptor genotype polymorphisms may be involved in obesity, but they have no relationship with the incidence of OSAHS in Han population in Southwest China. In OSAHS patients, Gln223Arg polymorphism has no relationship with LEP or TI. Patients with OSAHS have hyperleptinemia and hyperinsulinemia.

关键词: 阻塞性睡眠呼吸暂停低通气综合征; 瘦素受体; 基因 Gln223Arg 多态性

Key words: Obstructive sleep apnea hypopnea syndrome; Leptin repetor; Gene Gln223Arg polymorphism

引用本文: 陈云芬, 张湘燕, 刘维佳, 张程, 王中新. 瘦素受体基因 Gln223Arg 多态性与西南地区汉族人群阻塞性睡眠呼吸暂停低通气综合征的关系. 中国呼吸与危重监护杂志, 2017, 16(5): 474-477. doi: 10.7507/1671-6205.201608059 复制

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