γ-氨基丁酸B受体、胰岛素受体底物-1及食欲素神经肽前体基因单核苷酸多态性与中国汉族人群阻塞性睡眠呼吸暂停低通气综合征易感性的关联
Association between Single Nucleotide Polymorphisms in Gamma-Aminobutyric Acid B Receptor, Insulin Receptor Substrate-1, and Hypocretin Neuropeptide Precursor Genes and Susceptibility to Obstructive Sleep Apnea Hypopnea Syndrome in a Chinese Han Population.
作者信息
Li Zhijun, Tang Tingyu, Du Jianzong, Wu Wenjuan, Zhou Xiaoxi, Qin Guangyue
机构信息
Department of Respiratory Medicine, Zhejiang Hospital, Hangzhou, China.
出版信息
Med Princ Pract. 2016;25(6):517-524. doi: 10.1159/000448997. Epub 2016 Aug 10.
OBJECTIVE
To investigate genotype-phenotype changes between rs29230 in γ-aminobutyric acid B receptor (GABBR1), rs1801278 in insulin receptor substrate-1 (IRS-1), and rs9902709 in hypocretin neuropeptide precursor (HCRT) and obstructive sleep apnea hypopnea syndrome (OSAHS) in Chinese Han individuals.
MATERIALS AND METHODS
A total of 130 patients with OSAHS and 136 age- and gender-matched healthy controls were enrolled in this study. A brief description of DNA extraction and genotyping is given. Multivariate unconditional logistic regression analysis adjusted for gender and age was used to estimate the associations of single nucleotide polymorphisms (SNPs) rs29230 (GABBR1), rs1801278 (IRS-1), and rs9902709 (HCRT) with OSAHS risk. Subgroup analysis was performed to evaluate differences in these SNPs among subgroups according to gender, body mass index (BMI), and severity of disease.
RESULTS
Genotype and allele frequencies of rs29230 were significantly different between cases and controls (p = 0.0205 and p = 0.0191, respectively; odds ratio = 0.493, 95% confidence interval = 0.271-0.896), especially for male patients (p = 0.0259 and p = 0.0202, respectively). Subgroup analysis according to BMI also revealed a significant allele difference for rs29230 between cases and controls in the overweight subgroup (p = 0.0333). Furthermore, allele and genotype frequencies of rs1801278 showed significant differences between cases and controls (p = 0.0488 and p = 0.0471, respectively). However, no association was observed between rs9902709 and OSAHS risk (p = 0.2762), and no differences were identified in other subgroups.
CONCLUSION
In this study, there was an association between variants of rs29230 and rs1801278 and OSAHS risk in the Chinese Han population but not for rs9902709.
目的
研究中国汉族人群中γ-氨基丁酸B受体（GABBR1）基因rs29230、胰岛素受体底物-1（IRS-1）基因rs1801278和下丘脑分泌素神经肽前体（HCRT）基因rs9902709的基因型-表型变化与阻塞性睡眠呼吸暂停低通气综合征（OSAHS）的关系。
材料与方法
本研究共纳入130例OSAHS患者和136例年龄及性别匹配的健康对照者。简要介绍了DNA提取和基因分型方法。采用经性别和年龄校正的多因素非条件logistic回归分析，评估单核苷酸多态性（SNP）rs29230（GABBR1）、rs1801278（IRS-1）和rs9902709（HCRT）与OSAHS风险的关联。进行亚组分析，以评估这些SNP在不同性别、体重指数（BMI）和疾病严重程度亚组之间的差异。
结果
rs29230的基因型和等位基因频率在病例组和对照组之间存在显著差异（分别为p = 0.0205和p = 0.0191；比值比 = 0.493，95%置信区间 = 0.271 - 0.896），在男性患者中尤为明显（分别为p = 0.0259和p = 0.0202）。根据BMI进行的亚组分析还显示，超重亚组中病例组和对照组之间rs29230的等位基因存在显著差异（p = 0.0333）。此外，rs1801278的等位基因和基因型频率在病例组和对照组之间也存在显著差异（分别为p = 0.0488和p = 0.0471）。然而，未观察到rs9902709与OSAHS风险之间存在关联（p = 0.2762），在其他亚组中也未发现差异。
结论
在本研究中，中国汉族人群中rs29230和rs1801278的变异与OSAHS风险有关，而rs9902709则无关。
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