2023 年第 11 期 第 18 卷

MAX二聚化蛋白1基因rs12475412和rs7349311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

Association of rs12475412 and rs7349311 polymorphisms of MAX dimerization protein 1 gene with ischemic stroke and its traditional Chinese medicine syndromes in Chinese Han population

作者：古联1，2曾文璐2朱路路3严雁1

英文作者：Gu Lian12 Zeng Wenlu2 Zhu Lulu3 Yan Yan1

单位：1广西中医药大学第一附属医院脑病二区，南宁530023；2广西中医药大学，南宁530001；3广西医科大学公共卫生学院，南宁530001

英文单位：1Department of Encephalopathy Division Ⅱ the First Affiliated Hospital of Guangxi University of Chinese Medicine Nanning 530023 China; 2Guangxi University of Chinese Medicine Nanning 530001 China; 3School of Public Health Guangxi University of Chinese Medicine Nanning 530001 China

关键词：缺血性脑卒中；MAX二聚化蛋白1基因；单核苷酸多态性；中医证候

英文关键词：Ischemicstroke;MAXdimerizingprotein1gene;Singlenucleotidepolymorphism;TraditionalChinesemedicalsyndromes

• 摘要：

• 目的  探索MAX二聚化蛋白1（MXD1）基因rs12475412、rs7349311多态性与中国汉族人群缺血性脑卒中（IS）及其中医证候的相关性。方法  选取2016年1月至2019年12月于广西中医药大学第一附属医院脑病科就诊的774例IS患者作为观察组，选取同期本院社区体检中心健康体检者或外科等科室病情较轻的外伤患者793例作为对照组。使用 MassARRAY单核苷酸多态性技术进行基因分型检测，应用PLINK软件进行遗传关联分析统计。结果  观察组与对照组rs12475412、rs7349311位点的基因型频率分布差异均无统计学意义（均P>0.05）。校正年龄后，MXD1基因rs12475412、rs7349311多态性与中国汉族女性IS患者血瘀证发生风险显著相关（rs12475412加性模型、显性模型、隐性模型的比值比分别为1.033、1.031、1.034，rs7349311显性模型、隐性模型的比值比分别为1.034、1.033，均P<0.05），并与气虚证发生风险显著相关（rs12475412加性模型、显性模型、隐性模型的比值比分别为1.036、1.036、1.036，rs7349311加性模型、显性模型、隐性模型的比值比分别为1.043、1.043、1.044，均P<0.05）。但MXD1基因rs12475412、rs7349311多态性与中国汉族男性IS各中医证候均无明显相关性（均P>0.05）。在校正年龄后，MXD1基因rs12475412、rs7349311多态性与中国汉族女性IS血瘀证和气虚证患者空腹血糖、D-二聚体、凝血酶时间水平显著相关（均P<0.05）。结论  MXD1基因多态性可能通过参与调控血糖代谢、凝血功能而影响中国汉族女性IS血瘀证和气虚证的发生发展。

• Objective  To explore the association of rs12475412 and rs7349311 polymorphisms of MAX dimerization protein 1(MXD1) gene with ischemic stroke(IS) and its traditional Chinese medicine syndromes in Chinese Han population. Methods  A total of 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 793 cases of healthy subjects in the community health examination center or trauma patients with mild conditions in surgical departments of the hospital were selected as the control group during the same period. MassARRAY single nucleotide polymorphism technology was used for genotyping, and PLINK software was used for genetic association analysis and statistics. Results  There was no statistically significant difference in the genotype frequency distribution of rs12475412 and rs7349311 loci between the observation group and the control group(all P>0.05). After adjusting for age, rs12475412 and rs7349311 polymorphisms of the MXD1 gene were significantly associated with the risk of blood stasis syndrome in Chinese Han IS women (odds ratios of the rs12475412 additive model, dominant model, and recessive model were 1.033, 1.031 and 1.034, respectively; odds ratios of the rs7349311 dominant model and recessive model were 1.034 and 1.033, respectively; all P<0.05), and it was significantly correlated with the risk of Qi deficiency syndrome(odds ratios of rs12475412 additive model, dominant model model, and recessive model were 1.036, 1.036 and 1.036, respectively; odds ratios of rs7349311 additive model, dominant model, and recessive model were 1.043, 1.043 and 1.044; all P<0.05). However, there was no significant correlation between the rs12475412 and rs7349311 polymorphisms of MXD1 gene and various traditional Chinese medicine syndromes of Chinese Han IS men (all P>0.05). After adjusting for age, the rs12475412 and rs7349311 polymorphisms of MXD1 gene were significantly correlated with fasting blood glucose, D-dimer, and thrombin time levels in Chinese Han women with IS blood stasis syndrome and Qi deficiency syndrome(all P<0.05). Conclusion  MXD1 gene polymorphisms may affect the occurrence and development of blood stasis syndrome and Qi deficiency syndrome in Chinese Han IS women through regulating blood glucose metabolism and blood coagulation function.