Department of Cardiovascular Surgery, First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China.
Department of Epidemiology & Biostatistics, School of Public Health, Zhejiang University, Hangzhou 310058, China.
Oxid Med Cell Longev. 2021 Jul 17;2021:5173190. doi: 10.1155/2021/5173190. eCollection 2021.
The present study is aimed at investigating the association of NFE2L2 gene polymorphisms with risk and clinical characteristics of acute type A aortic dissection (AAAD) in a Han Chinese population. Six SNPs (rs1806649, rs13001694, rs2364723, rs35652124, rs6721961, and rs2706110) in NFE2L2 were genotyped using SNaPshot Multiplex Kit in 94 adult patients diagnosed with AAAD at our hospital, and 208 healthy Han Chinese subjects from the 1000 Genomes Project were served as the control group. The CC genotype of rs2364723 (CC versus (GC+GG), OR = 2.069, 95% CI: 1.222-3.502, = 0.006) and CC genotype of rs35652124 (CC versus (CT+TT), OR = 1.889, 95% CI: 1.112-3.210, = 0.018) were identified as risk factors for AAAD. Multivariable linear regression analysis revealed that the CC genotype of rs2364723 ( = 5.031, 95% CI: 1.878-8.183, = 0.002) and CC genotype of rs35652124 ( = 4.751, 95% CI: 1.544-7.958, = 0.004) were associated with increased maximum ascending aorta diameter of AAAD. Patients carrying rs2364723 CC genotype had a higher incidence of coronary artery involvement (31% vs. 12%, = 0.027), while patients carrying rs35652124 CC genotype had a higher incidence of brain ischemia (9% vs. 0%, = 0.045). In conclusion, NFE2L2 gene polymorphisms were correlated with risk and severity of AAAD in Han Chinese population.
本研究旨在探讨 NFE2L2 基因多态性与汉族人群急性 A 型主动脉夹层（AAAD）风险和临床特征的关系。采用 SNaPshot 多重试剂盒对 94 例我院确诊的 AAAD 成年患者（病例组）和 208 例来自 1000 基因组计划的汉族健康个体（对照组）的 NFE2L2 中的 6 个 SNP（rs1806649、rs13001694、rs2364723、rs35652124、rs6721961 和 rs2706110）进行基因分型。结果显示，rs2364723 的 CC 基因型（CC 与（GC+GG）相比，OR=2.069，95%CI：1.222-3.502， = 0.006）和 rs35652124 的 CC 基因型（CC 与（CT+TT）相比，OR=1.889，95%CI：1.112-3.210， = 0.018）被鉴定为 AAAD 的危险因素。多变量线性回归分析显示，rs2364723 的 CC 基因型（ = 5.031，95%CI：1.878-8.183， = 0.002）和 rs35652124 的 CC 基因型（ = 4.751，95%CI：1.544-7.958， = 0.004）与 AAAD 的最大升主动脉直径增大有关。携带 rs2364723 CC 基因型的患者冠状动脉受累发生率较高（31%比 12%， = 0.027），而携带 rs35652124 CC 基因型的患者脑缺血发生率较高（9%比 0%， = 0.045）。总之，NFE2L2 基因多态性与汉族人群 AAAD 的风险和严重程度相关。
