| 摘要: |
| 目的 探讨载脂蛋白M（apoM）基因单核苷酸多态性（SNP）与慢性阻塞性肺疾病（COPD）的相关性，以期为COPD高危人群的筛查、早期诊断及治疗提供依据。方法 采用碱基淬灭探针技术检测分析256例COPD患者（COPD组）和248例健康对照（对照组）的apoM基因rs805264、rs707922及rs707921多态性位点。结果 COPD组和对照组apoM基因rs805264、rs707922及rs707921位点基因型频率分布符合Hardy-Weinberg遗传平衡定律（P均>0.05）。COPD组rs805264位点的AA纯合子基因型频率低于对照组，GG+GA基因型频率高于对照组，差异有统计学意义（χ2=4.769，P=0.029）；COPD组rs707921位点的AA纯合子基因型频率低于对照组，CC+CA基因型频率高于对照组，差异有统计学意义（χ2=4.769，P=0.029）；两组rs707922位点的基因型频率分布差异无统计学意义（P>0.05）。COPD组和对照组apoM基因rs805264、rs707922及rs707921位点等位基因频率分布差异均无统计学意义（P均>0.05）。rs805264位点与rs707921位点及rs707922位点与rs707921位点呈强连锁不平衡（D'均>0.8，r2均>0.8），rs805264位点与rs707922位点呈完全连锁不平衡（D'=1.000，r2=0.820）。结论 ApoM基因rs805264和rs707921位点SNP可能与COPD的易感性有关，而rs707922位点SNP可能与COPD无关。 |
| 关键词: 慢性阻塞性肺疾病 载脂蛋白M 单核苷酸多态性 碱基淬灭探针技术 |
| DOI：10.16781/j.0258-879x.2018.12.1336 |
| 投稿时间：2018-04-24修订日期：2018-08-02 |
| 基金项目:江苏省前瞻性研究专项基金（BE2013629），常州市卫生人才培养工程资助项目（2016ZCLJ002）. |
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| Association of apolipoprotein M gene single nucleotide polymorphism and chronic obstructive pulmonary disease |
| QIAO Ying-ying1,ZHOU Jun1*,LUO Guang-hua2 |
(1. Department of Respiratory Medicine, The Third Affiliated Hospital of Soochow University, Changzhou 213003, Jiangsu, China;
2. Department of Integrated Laboratory, The Third Affiliated Hospital of Soochow University, Changzhou 213003, Jiangsu, China
*Corresponding author) |
| Abstract: |
| Objective To explore the association between single nucleotide polymorphism (SNP) of apolipoprotein M (apoM) gene and chronic obstructive pulmonary disease (COPD), so as to provide evidence for screening early diagnosis and treatment of COPD in high-risk population. Methods The base-quenched probe technique was performed to determine and analyze the apoM gene SNP loci (rs805264, rs707922 and 707921) of 256 COPD patients (COPD group) and 248 healthy control participants (control group). Results The frequencies of apoM (rs805264, rs707922 and rs707921) genotypes of COPD patients and healthy control participants were found to be in genetic equilibrium according to the Hardy-Weinberg Law (all P>0.05). Compared with the control group, the frequency of rs805264 locus AA genotype was lower and the frequency of GG+GA combined genotype was higher in the COPD group, and the difference was significant (χ2=4.769, P=0.029). Compared with the control group, the frequency of rs707921 locus AA genotype was lower and the frequency of CC+CA was higher in the COPD group, and the difference was significant (χ2=4.769, P=0.029). However, there was no significant difference in the genetype frequency distribution of rs707922 locus between the two groups (P>0.05). There were no significant differences in the frequencies of alleles of apoM rs805264, rs707922 or rs707921 loci between the COPD and control groups (all P>0.05). The rs805264 and rs707921, and rs707922 and rs707921 showed strong linkage disequilibrium (both D'>0.8, both r2>0.8); and rs805264 and rs707922 showed complete linkage disequilibrium (D'=1.000, r2=0.820). Conclusion ApoM gene rs805264 and rs707921 loci may be associated with COPD susceptibility, while the rs707922 locus may not be associated with COPD. |
| Key words: chronic obstructive pulmonary disease apolipoprotein M single nucleotide polymorphism base-quenched probe technique |
