2024 年第 1 期 第 19 卷

小核RNA激活复合体多肽3基因rs4741506多态性与中国汉族人群缺血性脑卒中及其中医证候的相关性分析

Correlation analysis of rs4741506 polymorphism of small nuclear RNA activation complex polypeptide 3 gene with ischemic stroke and its traditional Chinese medicine syndromes in Chinese Han population

作者：古联1 梁宝云1 苏莉2 刘晶3 杨怡冰3 曾文璐3 梁一帆3 严雁1

英文作者：Gu Lian1 Liang Baoyun1 Su Li2 Liu Jing3 Yang Yibing3 Zeng Wenlu3 Liang Yifan3 Yan Yan1

单位：1广西中医药大学第一附属医院脑病二区，南宁530022；2广西医科大学公共卫生学院，南宁530001；3广西中医药大学研究生院，南宁530001

英文单位：1Department of Encephalopathy Division Ⅱ the First Affiliated Hospital of Guangxi University of Chinese Medicine Nanning 530022 China; 2School of Public Health Guangxi Medical University Nanning 530001 China; 3Graduate School Guangxi University of Chinese Medicine Nanning 530001 China

关键词：缺血性脑卒中；小核RNA激活复合体多肽3；单核苷酸多态性；风证；痰证

英文关键词：Ischemicstroke;SmallnuclearRNAactivationcomplexpolypeptide3;Singlenucleotidepolymorphism;Windsyndrome;Phlegmsyndrome

• 摘要：

• 目的  探讨中国汉族人群中小核RNA激活复合体多肽3（SNAPC3）基因rs4741506多态性与缺血性脑卒中(IS)及其中医证候的关系。方法  选取2016年1月至2019年12月在广西中医药大学第一附属医院脑病科住院治疗的774例IS患者作为观察组，同期本院体检中心的健康体检者以及医院骨科轻症外伤患者793例作为对照组。对IS患者进行中医证候辨证，对SNAPC3基因多态性位点rs4741506进行基因分型检测。建立4种遗传模型，应用PLINK软件和SPSS 21.0软件进行遗传关联及基因位点多态性与IS及其中医证候和患者临床指标的相关性分析。结果  观察组与对照组rs4741506位点的基因型频率分布差异有统计学意义(χ2=6.366，P=0.041)。在加性模型、显性模型、隐性模型中，SNAPC3基因rs4741506多态性与IS的发生风险均无显著相关性（均P＞0.05）。多因素Logistic回归模型分析结果显示，校正年龄和性别后SNAPC3基因rs4741506多态性与IS风证（隐性模型：比值比=0.45，95%置信区间：0.22～0.92，P=0.029）、痰证（隐性模型：比值比=0.39，95%置信区间：0.19～0.81，P=0.011）发生风险相关，而与血瘀证的发生风险无明显相关性（显性模型：比值比=1.42，95%置信区间：1.00～2.01，P=0.051）。在隐性模型下，校正年龄和性别后SNAPC3基因rs4741506多态性与IS痰证患者舒张压水平相关（β=-10.93，95%置信区间：-20.64～-1.22，P=0.028）。一般线性回归分析结果显示，校正年龄和性别后SNAPC3基因rs4741506多态性与IS痰证患者血清载脂蛋白A1（加性模型、显性模型）、载脂蛋白B（隐性模型）、血小板计数（加性模型、显性模型）水平、凝血酶时间（显性模型）显著相关（均P<0.05）。结论  SNAPC3基因rs4741506多态性可能影响IS风证及痰证的发生发展。

• Objective  To investigate the correlation of small nuclear RNA activation complex polypeptide 3 (SNAPC3) gene rs4741506 polymorphism with ischemic stroke(IS) and its traditional Chinese medical(TCM) syndromes in Chinese Han population. Methods  Totally 774 IS patients admitted to Department of Encephalopathy, the First Affiliated Hospital of Guangxi University of Chinese Medicine from January 2016 to December 2019 were selected as the observation group, while during the same period 793 healthy examinees from Physical Examination Center or patients with mild trauma in Department of Orthopedics in the hospital were selected as the control group. IS patients were subjected to TCM syndrome differentiation, and SNAPC3 gene polymorphism site rs4741506 was genotyped. Four genetic models were established, and PLINK software and SPSS 21.0 software were used for genetic association analysis and correlation analysis between gene locus polymorphism and IS, TCM syndromes, and clinical indicators of patients. Results  The genotype frequency distribution of rs4741506 locus in the observation group was significantly different from that in the control group（χ2=6.366, P=0.041). In additive, dominant, and recessive models, there was no significant correlation between the rs4741506 polymorphism of the SNAPC3 gene and the risk of IS occurrence(all P>0.05). The results of multivariate Logistic regression model analysis showed that after adjusting for age and gender, the rs4741506 polymorphism of the SNAPC3 gene was correlated with the risk of IS wind syndrome［recessive model: odds ratio(OR)=0.45, 95% confidence interval(CI): 0.22-0.92, P=0.029］ and phlegm syndrome(recessive model: OR=0.39, 95%CI: 0.19-0.81, P=0.011); but there was no significant correlation with the risk of blood stasis syndrome(dominant model: OR=1.42, 95%CI: 1.00-2.01, P=0.051). Under the implicit model, the rs4741506 polymorphism of SNAPC3 gene was correlated with the diastolic blood pressure level in patients with IS phlegm syndrome after adjusting for age and gender(β=-10.93, 95%CI: -20.64--1.22, P=0.028). General linear regression analysis showed that the rs4741506 polymorphism of SNAPC3 gene after adjusting for age and gender was correlated with serum apolipoprotein A1 (additive model, dominant model), apolipoprotein B(recessive model), platelet count(additive model, dominant model) and thrombin time(dominant model) in patients with IS phlegm syndrome(all P<0.05). Conclusion  The SNAPC3 gene rs4741506 polymorphism may influence the development of wind syndrome and phlegm syndrome in IS.