Leptin and leptin receptor gene polymorphisms in obstructive sleep apnea syndrome
Leptin and leptin receptor gene polymorphisms in obstructive sleep apnea syndrome
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DOI：
10.1378/chest.07-1633
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发表时间：
2008-01-01
期刊：
影响因子：
9.6
通讯作者：
Kubo, Keishi
中科院分区：
文献类型：
--
作者：
Hanaoka, Masayuki;Yu, Xiujun;Kubo, Keishi
背景：阻塞性睡眠呼吸暂停在肥胖人群中很常见。瘦素是一种脂肪细胞衍生的信号因子，在代谢控制中起重要作用。越来越多的证据表明，瘦素调节在阻塞性睡眠呼吸暂停综合征（OSAS）中发生改变。本研究的目的是探讨瘦素和瘦素受体（LEPR）基因多态性与OSAS的关系。方法：研究人群为130例OSAS患者和50例健康对照者。所有科目都是日语。对所有患者和对照组进行诊断性多导睡眠图检查。我们检测了瘦素基因3'侧区域高度多态性的四核苷酸重复多态性和LEPR基因4外显子Lys109Arg （A/G）、6外显子Gln223Arg （A/G）和14外显子Lys656Asn （G/C）三个单核苷酸多态性（snp）。结果：OSAS患者瘦素和LEPR基因多态性的等位基因频率和基因型分布与对照组无显著差异。对于LEPR基因，Gln223Arg和Lys656Asn snp的野生型等位基因对轻度OSAS（在显性模型中定义为呼吸暂停-低通气指数为10和20事件/小时）有轻微显著影响。结论：日本人群瘦素基因的四核苷酸重复多态性和LEPR基因的Lys109Arg、Gln223Arg和Lys656Asn snp与OSAS无相关性。需要进一步的研究来证实野生型Gln223Arg和Lys656Asn snp与OSAS严重程度的关联。
Background: Obstructive sleep apnea is common in obese people. Leptin is an adipocyte-derived signaling factor that has an important role in metabolic control. There is growing evidence that leptin regulation is altered in obstructive sleep apnea syndrome (OSAS). The aim of this study was to investigate the relation between polymorphisms of the leptin and leptin receptor (LEPR) genes and OSAS.Methods: The study population consisted of 130 patients with OSAS and 50 healthy control subjects. All the subjects were Japanese. Diagnostic polysomnography was performed in all patients and control subjects. A highly polymorphic tetranucleotide repeat polymorphism in the 3'-flanking region of the leptin gene and three single nucleotide polymorphisms (SNPs) [Lys109Arg (A/G) in exon 4, Gln223Arg (A/G) in exon 6, and Lys656Asn (G/C) in exon 14] in the LEPR gene were examined.Results: There were no significant differences in allelic frequencies and genotype distributions of the examined polymorphisms of the leptin and LEPR genes between OSAS patients and control subjects. For the LEPR gene, the wild-type alleles of the Gln223Arg and Lys656Asn SNPs had a marginally significant effect on mild OSAS, which was defined as an apnea-hypopnea index from 10 and 20 events/h in the dominant model.Conclusions: The tetranucleotide repeat polymorphism of the leptin gene and the Lys109Arg, Gln223Arg, and Lys656Asn SNPs in the LEPR gene were not associated with OSAS ill the Japanese population. Further studies are required to confirm the association of the wild types of Gln223Arg and Lys656Asn SNPs with the severity of OSAS.