State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asian, Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, 137 Liyushan South Road, Urumqi, 830054, Xinjiang, China.
Department of Medical Science Examination Center, First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China.
Sci Rep. 2020 Nov 11;10(1):19518. doi: 10.1038/s41598-020-72877-9.
Myocardial infarction (MI), the leading cause of mortality and disability worldwide, is a disease in which multiple environmental and genetic factors are involved. Recently, researches suggested that insertion/deletion (ins/del) variation of NFKB1 gene rs28362491 is a functional polymorphism. In the present study, we aimed to explore the relation between variation of NFKB1 gene rs28362491 and MI by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 359 MI patients and 1085 control participants. Gensini score was used to evaluate the degree of coronary artery stenosis in MI patients. The plasma levels of interleukin-6 (IL-6), IL-8, malonaldehyde (MDA) and superoxide dismutase (SOD) were randomly measured by ELISA both in MI patients and control participants. We found that the detected frequencies of D allele (41.2% vs. 36.4%, P = 0.021) and DD genotype (17.5% vs. 12.0%, P = 0.022) were significantly higher in MI patients than in control participants. Compared with II or ID genotype carriers, the Gensini score in MI patients with DD genotype was 32-43% higher (both P < 0.001). Moreover, DD genotype carries had more diseased coronary arteries (P = 0.001 vs. II or ID genotype). Of note, IL-6 levels in MI patients carrying DD genotype were significantly higher than that in control participants and other genotype carriers in MI patients (both P < 0.05). In conclusion, NFKB1 gene rs28362491 DD genotype was associated with a higher risk of MI and more severe coronary artery lesion, which also had a potential influence on the level of inflammatory cytokine IL-6.
心肌梗死（MI）是全球导致死亡和残疾的主要原因，是一种涉及多种环境和遗传因素的疾病。最近的研究表明，NFKB1 基因 rs28362491 的插入/缺失（ins/del）变异是一种功能多态性。在本研究中，我们旨在通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）在 359 名 MI 患者和 1085 名对照参与者中探讨 NFKB1 基因 rs28362491 变异与 MI 的关系。Gensini 评分用于评估 MI 患者冠状动脉狭窄程度。MI 患者和对照参与者的随机酶联免疫吸附试验（ELISA）测量白细胞介素-6（IL-6）、白细胞介素-8（IL-8）、丙二醛（MDA）和超氧化物歧化酶（SOD）的血浆水平。我们发现，与对照组相比，DD 基因型在 MI 患者中的检测频率（41.2% vs. 36.4%，P=0.021）和 DD 基因型（17.5% vs. 12.0%，P=0.022）显著升高。与 II 或 ID 基因型携带者相比，DD 基因型携带者的 Gensini 评分高 32-43%（均 P<0.001）。此外，DD 基因型携带者的病变冠状动脉更多（P=0.001 与 II 或 ID 基因型）。值得注意的是，携带 DD 基因型的 MI 患者的 IL-6 水平明显高于对照组和其他 MI 患者的基因型携带者（均 P<0.05）。总之，NFKB1 基因 rs28362491 DD 基因型与 MI 的风险增加和更严重的冠状动脉病变相关，这也对炎症细胞因子 IL-6 的水平有潜在影响。
