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中华临床实验室管理电子杂志 ›› 2021, Vol. 09 ›› Issue (04) : 222 -226. doi: 10.3877/cma.j.issn.2095-5820.2021.04.006

实验研究

NLRP3基因rs10754558位点单核苷酸多态性与慢性阻塞性肺疾病的关联研究
伍慧妍1, 蔡洁琳2, 周泳琳3, 杨欣4, 彭亮1,()   
  1. 1. 510799 广东广州,广州医科大学附属第五医院;510180 广东广州,广州医科大学金域检验学院
    2. 514031 广东梅州,嘉应学院医学院
    3. 510180 广东广州,广州医科大学金域检验学院
    4. 510799 广东广州,广州医科大学附属第五医院
  • 收稿日期:2021-04-13 出版日期:2021-11-28
  • 通信作者: 彭亮
  • 基金资助:
    广东省医学科学技术研究基金项目(B2021440); 广东省基础与应用基础研究基金自然科学基金(2021A1515011081)

Analysis of the association between NLRP3 rs10754558 polymorphism and chronic obstructive pulmonary disease

Huiyan Wu1, Jielin Cai2, Yonglin Zhou3, Xin Yang4, Liang Peng1()   

  1. 1. The Fifth Affiliated Hospital of Guangzhou Medical University, Guangzhou Guangdong 510799, China; KingMed School of Laboratory Medicine, Guangzhou Guangdong 510180, China
    2. Medical College of Jiaying University, Meizhou Guangdong 514031, China
    3. KingMed School of Laboratory Medicine, Guangzhou Guangdong 510180, China
    4. The Fifth Affiliated Hospital of Guangzhou Medical University, Guangzhou Guangdong 510799, China
  • Received:2021-04-13 Published:2021-11-28
  • Corresponding author: Liang Peng
引用本文:

伍慧妍, 蔡洁琳, 周泳琳, 杨欣, 彭亮. NLRP3基因rs10754558位点单核苷酸多态性与慢性阻塞性肺疾病的关联研究[J/OL]. 中华临床实验室管理电子杂志, 2021, 09(04): 222-226.

Huiyan Wu, Jielin Cai, Yonglin Zhou, Xin Yang, Liang Peng. Analysis of the association between NLRP3 rs10754558 polymorphism and chronic obstructive pulmonary disease[J/OL]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2021, 09(04): 222-226.

目的

探讨NLRP3 3'端非编码基因rs10754558变异位点和慢性阻塞性肺疾病(COPD)之间的相关性,为探索COPD早期诊治的分子学标志提供线索。

方法

回顾性分析2020年8月至2021年6月,广州医科大学附属第五医院收治入院的COPD患者样本113例和健康对照组样本84例,利用高分辨熔解曲线(HRM)方法检测其核酸SNP分型,收集受试者的临床资料及炎症指标,同时对COPD患者进行口咽部致病菌检查。采用χ2检验,t检验,logistic回归模型统计分析基因与疾病间的相关性。

结果

NLRP3 3'端非编码基因rs10754558位点的基因型及等位基因频率在COPD稳定期组、COPD急性加重期组(AECOPD组)和健康对照组中差异均无统计学意义(χ2=2.798,P=0.592;χ2= 0.536,P=0.765)。logistic回归分析显示,携带G等位基因与携带C等位基因型的患者未增加COPD的发生风险(P>0.05),但在炎症因子CRP的表达上,携带G等位基因的CRP水平显著高于携带C等位基因(P=0.016)。

结论

COPD与NLRP3 rs10754558位点多态性无明显相关。COPD患者炎症因子表达升高,G等位基因可能与COPD患者炎症因子CRP的高表达有关。

Objective

To provide a potential molecular marker for the early diagnosis and treatment of COPD through investigating the correlation between rs10754558 mutation of NLRP3 3'non coding gene and chronic obstructive pulmonary disease (COPD).

Methods

A total of 113 COPD patients and 84 healthy controls were collected from August 2020 to June 2021 in the Fifth Affiliated Hosptial of Guangzhou Medical University. The SNP typing of nucleic acid was detected by HRM method. Meanwhile, clinical data and inflammatory indexes were collected, and pathogenic bacteria in the oropharynx were examined in COPD patients. The χ2 test, t test and logistic regression model were used to analyze the correlation between SNPs and COPD.

Results

There was no significant difference in genotype and allele frequency of NLRP3 rs10754558 among stable COPD group, AECOPD group and healthy control group (χ2=2.798, P=0.592; χ2=0.538, P=0.765). Logistic regression analysis showed that patients with G allele and C allele had no increased risk of COPD (P>0.05). However, the level of CRP in G allele was significantly higher than that in C allele (P=0.016).

Conclusions

There was no significant correlation between COPD and rs10754558 polymorphism of NLRP3. The expression of inflammatory factors was increased in COPD patients. G allele may be related to the high expression of CRP in patients with COPD.

表1 三组一般临床资料比较
图1 NLRP3基因rs10754558位点CC、CG、GG基因型的HRM熔解曲线图
表2 NLRP3基因rs10754558位点基因型及等位基因在不同组间的分布比例[n(%)]
表3 NLRP3基因rs10754558位点基因型及等位基因的COPD发病风险[n(%)]
表4 COPD组NLRP3基因rs10754558位点不同基因型临床资料的比较
1
Quaderi SA, Hurst JR. The unmet global burden of COPD[J]. Glob Health EPidemiol Genom, 2018, 3:e4.
2
Siegel RL, Miller KD, Jemal A. Cancer statistics, 2017[J]. CA Cancer J Clin, 2017, 67(1):7-30.
3
李玉平, 孙建萍. 慢性阻塞性肺疾病患者失能的研究进展[J]. 护理学杂志, 2020, 35(1):102-106.
4
王利君, 陈丽君. 常见血炎症指标对慢性阻塞性肺疾病急性加重的临床诊断价值[J]. 黑龙江科学, 2020, 11(14):38-40, 43.
5
李英莲, 左小芹, 常琼. 青海地区藏族HLA-DQA1基因多态性与慢性阻塞性肺疾病相关性研究[J]. 临床和实验医学杂志, 2018, 17(23):2534-2537.
6
王晓娟, 方向阳. 慢性阻塞性肺疾病全球倡议2019:慢性阻塞性肺疾病诊断、治疗与预防全球策略解读[J]. 中国全科医学, 2019, 22(18):2141-2149.
7
Yang W, Ni H, Wang H, et al. NLRP3 inflammasome is essential for the development of chronic obstructive Pulmonary disease[J]. Int J Clin ExP Pathol, 2015, 8(10):13209-13216.
8
Zhou D, Wang X, Chen T, et al. The NLRP3 rs10754558 Polymorphism is associated with the occurrence and prognosis of coronary artery disease in the Chinese Han population[J]. Biomed Res Int, 2016, 2016:3185397.
9
郑莹莹. NLRP3基因SNP多态性与2型糖尿病的相关性研究[D]. 中南大学, 2012.
10
Trivedi A, Khan MA, Bade G, et al. Orchestration of neutrophil extracellular traps (Nets), a unique innate immune function during chronic obstructive pulmonary disease (COPD) development[J]. Biomedicines, 2021, 9(1):53.
11
Hikichi M, Mizumura K, Maruoka S, et al. Pathogenesis of chronic obstructive pulmonary disease (COPD) induced by cigarette smoke[J]. J Thorac Dis, 2019 (Suppl 17):S2129-S2140.
12
Fan K, Yang J, Gong WY, et al. NLRP3 inflammasome activation mediates sleep deprivation-induced pyroptosis in mice[J]. Peer J, 2021, 9:e11609.
13
Mishra SR, Mahapatra KK, Behera BP, et al. Mitochondrial dysfunction as a driver of NLRP3 inflammasome activation and its modulation through mitophagy for potential therapeutics[J]. Int J Biochem Cell Biol, 2021,136:106013.
14
Bauernfeind F, Ablasser A, Bartok E, et al. Inflammasomes: current understanding and open questions[J]. Cell Mol Life Sci, 2011, 68(5):765-783.
15
Barnes PJ. Inflammatory mechanisms in patients with chronic obstructive pulmonary disease[J]. J Allergy Clin Immun, 2016, 138(1):16-27.
16
伍慧妍, 贺端明, 江雁琼. 慢性阻塞性肺疾病稳定期患者FEV1%值与炎症因子、菌群失调的相关性[J]. 实用医学杂志, 2019, 35(12):1939-1943.
17
Wang H, Xu P, Liao D, et al. Association between NLPR1, NLPR3, and P2X7R gene polymorphisms with partial seizures[J]. Biomed Res Int, 2017:9547902.
18
Zhang QB, Qing YF, He YL, et al. Association of NLRP3 polymorphisms with susceptibility to primary gouty arthritis in a Chinese Han population[J]. Clin Rheumatol, 2018, 37(1):235-244.
19
Ehtesham N, Zare RM, Esmaeilzadeh E, et al. Three functional variants in the NLRP3 gene are associated with susceptibility and clinical characteristics of systemic lupus erythematosus[J]. Lupus, 2021, 30(8):1273-1282.
20
Zhou D, Wang X, Chen T, et al. The NLRP3 rs10754558 polymorphism is associated with the occurrence and prognosis of coronary artery disease in the Chinese Han population[J]. Biomed Res Int, 2016, 2016:3185397.
21
吕洁, 蒋晓山, 谭超, 等. 缺血性脑卒中CARD8 rs2043211和NLRP3 rs10754558的遗传共关联作用[J]. 中国神经精神疾病杂志, 2019, 45(5):276-282.
22
Mayr C. Regulation by 3'-Untranslated Regions[J]. Annu Rev Genet, 2017, 51:171-194.
23
Lianoglou S, Garg V, Yang JL, et al. Ubiquitously transcribed genes use alternative polyadenylation to achieve tissue-specific expression[J]. Genes Dev, 2013, 27(21):2380-2396.
24
Mayr C. What Are 3'UTRs Doing[J]. Cold Spring Harb Perspect Biol, 2019, 11(10):a034728.
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