慢性阻塞性肺疾病发病易感性与单核苷酸多态性相关

doi:10.16352/j.issn.1001-6325.2022.12.1891

基础医学与临床 ›› 2022, Vol. 42 ›› Issue (12): 1891-1894.doi: 10.16352/j.issn.1001-6325.2022.12.1891

慢性阻塞性肺疾病发病易感性与单核苷酸多态性相关

夏岑峰^*, 王娜, 张鹏

宁夏医科大学总医院心脑血管病医院呼吸与危重症医学科, 宁夏银川 750004

收稿日期:2022-07-27 修回日期:2022-10-21 出版日期:2022-12-05 发布日期:2022-11-23
通讯作者: ^* 897054846@qq.com
基金资助:
宁夏医科大学科学研究基金(XM2016081)

Correlation between susceptibility to chronic obstructive pulmonary disease and single nucleotide polymorphisms

XIA Cen-feng^*, WANG Na, ZHANG Peng

Department of Respiratory and Critical Care Medicine, Cardiocerebral Vascular Disease Hospital, General Hospital of Ningxia Medical University, Yinchuan 750004, China

Received:2022-07-27 Revised:2022-10-21 Online:2022-12-05 Published:2022-11-23
Contact: ^* 897054846@qq.com

摘要/Abstract

摘要： 目的探讨慢性阻塞性肺疾病(COPD,慢阻肺)的基因单核苷酸多态性与发病易感性的关系。方法选择444例慢阻肺患者及434例健康人群作为研究对象,对壳三糖苷酶/几丁质酶1(CHIT1)上的4个位点:rs771576027、rs1402870472、rs61745299和rs527497633以及磷酸二酯酶4D(PDE4D)上的1个位点rs117292391进行Sequenom MassARRAY检测分型,通过数据统计判断单核苷酸多态性(SNP)与慢阻肺发病风险的关系。结果 rs61745299(CHIT1)位点的基因型CG和等位基因C提示慢阻肺的发病风险较高,并且分布频率存在显著性差异(P＜0.05);rs117292391(PDE4D)位点的基因型AG和等位基因G同样提示慢阻肺的发病风险较高,并且分布频率存在显著性差异(P＜0.05);此外,吸烟也会增加慢阻肺的发病风险。结论 CHIT1的rs61745299位点和PDE4D的 rs117292391位点可能成为COPD的潜在生物标志。

关键词: 慢性阻塞性肺疾病, 几丁质酶1, 磷酸二酯酶4D, 单核苷酸多态性

Abstract: Objective To investigate the correlation between single nucleotide polymorphism (SNP) and susceptibility of chronic obstructive pulmonary disease (COPD). Methods A total of 444 COPD patients and 434 healthy people were selected as the research objects. The Sequenom MassARRAY typing was performed at four loci of chitotriosidase-1(CHIT1): rs771576027, rs1402870472, rs61745299 and rs527497633, and a site rs117292391 on phosphodiesterase 4D(PDE4D). The correlation between single nucleotide polymorphism (SNP) and the risk of COPD was statistically evaluated. Results Genotype CG and allele C of rs61745299(CHIT1) increased the risk of COPD, and the distribution frequency was significantly different (P＜0.05). Genotype AG and allele G of rs117292391(PDE4D) also increased the risk of COPD with significant, distribution frequency(P＜0.05). Smoking also increased the risk of COPD. Conclusions rs61745299(CHIT1) and rs117292391 (PDE4D) are potential candidates of COPD biomarkers.

Key words: chronic obstructive pulmonary disease, chitinase 1, phosphodiesterase 4D, single nucleotide polymorphism

中图分类号:

夏岑峰, 王娜, 张鹏. 慢性阻塞性肺疾病发病易感性与单核苷酸多态性相关[J]. 基础医学与临床, 2022, 42(12): 1891-1894.

XIA Cen-feng, WANG Na, ZHANG Peng. Correlation between susceptibility to chronic obstructive pulmonary disease and single nucleotide polymorphisms[J]. Basic & Clinical Medicine, 2022, 42(12): 1891-1894.

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慢性阻塞性肺疾病发病易感性与单核苷酸多态性相关

Correlation between susceptibility to chronic obstructive pulmonary disease and single nucleotide polymorphisms

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