Correlation analysis of NLRP3 gene promoter polymorphism and clinical characteristics of patients with dilated cardiomyopathy
10.3760/cma.j.cn431274-20211025-01117
- VernacularTitle:NLRP3基因启动子多态性与扩张型心肌病患者临床特征的相关性
- Author:
Shuang GAO
1
;
Yu ZHOU
;
Shuyin SUN
;
Xuelei REN
;
Benli WANG
;
Xiangyu HAN
Author Information
1. 济宁医学院临床学院，济宁 272000
- Keywords:
Cardiomyopathy, dilated;
NOD-like receptor protein 3;
Polymorphism, single nucleotide
- From:
Journal of Chinese Physician
2022;24(8):1179-1183
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the relationship between NOD-like receptor protein 3 (NLRP3) gene promoter region-30 single nucleotide polymorphism (SNP) (rs3738448) G/T and dilated cardiomyopathy (DCM) and its related risk factors.Methods:A case-control study method was used to collect 137 patients and 140 healthy controls; polymerase chain reaction-restriction endonuclease fragment length polymorphism technology combined with sequence alignment after DNA sequencing was used for data statistics; After Hardy-Weinberg balance test, the χ 2 test was used for correlation analysis; logistic regression was used to analyze the correlation between multiple risk factors and the SNP site and the incidence of DCM; SNPinfo database was used to predict and analyze the transcription factors affected by the SNP. Results:A total of GG and GT genotypes were detected at this SNP locus, and their genotype distributions were in line with Hardy-Weinberg equilibrium ( P>0.05). At the same time, the difference between the DCM group and the control group was significant ( P<0.05). Multivariate logistic regression analysis indicated that mean arterial pressure, C-reactive protein and B-type brain natriuretic peptide were independent risk factors for the onset of DCM (all P<0.05). The incidence of DCM in -30(RS3738448)G/T genotype GT group was 2.243 times higher than that in GG group (95% CI: 1.043-4.827, P<0.05). Logistic regression analysis under dominant, recessive and additive genetic models showed that there was a correlation between the dominant inheritance of SNP and the occurrence of DCM ( OR=0.44, AIC=370.4, BIC=381.3, P<0.05). Conclusions:The -30 (rs3738448) G/T SNP in the promoter region of the NLRP3 gene is associated with the pathogenesis of DCM, and provides population genetic data for the study of polymorphisms in the promoter region of NLRP3 gene.
