2022 年第 5 期 第 17 卷

沉默信息调节因子1基因多态性与动脉粥样硬化性脑梗死的相关性研究

The relationship between silent information regulator 1 gene polymorphism and atherosclerotic cerebral infarction

作者：施凤飞1余航1邹坤1张衍辉1刘清1项翼1鲍杰伟2

英文作者：Shi Fengfei1 Yu Hang1 Zou Kun1 Zhang Yanhui1 Liu Qing1 Xiang Yi1 Bao Jiewei2

单位：1江西中医药大学附属医院康复科，南昌330006;2江西中医药大学附属医院脊柱二科，南昌330006

英文单位：1Department of Rehabilitation the Affiliated Hospital of Jiangxi University of Chinese Medicine Nanchang 330006 China; 2the Second Department of Spine the Affiliated Hospital of Jiangxi University of Chinese Medicine Nanchang 330006 China

关键词：动脉粥样硬化性脑梗死；沉默信息调节因子1；基因多态性

英文关键词：Atherosclerosiscerebralinfarction;Silentinformationregulator1;Genepolymorphisms

• 摘要：

• 目的 探讨沉默信息调节因子1（SIRT1）基因rs7069102、rs2273773位点基因多态性与动脉粥样硬化性脑梗死（ACI）的相关性。方法 选取2016年9月4日至2020年12月5日于江西中医药大学附属医院住院的汉族ACI患者238例（ACI组），另选取同时期江西中医药大学附属医院汉族健康体检者238例（对照组）。采用聚合酶链反应-限制性片段长度多态性方法分析SIRT1基因rs7069102、rs2273773位点多态性，并分析其与生化指标、颈总动脉内膜中层厚度（IMT）和脑梗死后功能障碍程度的相关性。结果 2组SIRT1基因rs7069102、rs2273773位点的基因型、等位基因频率比较差异均无统计学意义（均P＞0.05）。对照组rs2273773位点CC、CT、TT基因型受试者高密度脂蛋白胆固醇水平呈下降趋势［（1.60±0.46）、（1.35±0.31）、（1.24±0.27）mmol/L］（P＜0.05）。ACI组SIRT1基因rs7969102位点CC基因型患者IMT小于CG+GG基因型［（0.09±0.02）cm比（0.11±0.02）cm］，rs2273773位点CC、CT、TT基因型患者糖化血红蛋白、颈总动脉IMT水平均呈下降趋势（均P＜0.05）。ACI组rs7069102位点CC基因型患者简化Fugl-Meyer运动功能评分（FMA）、改良Barthel指数（MBI）评分均高于CG+GG基因型，rs2273773位点CC、CT、TT基因型FMA、MBI评分均呈上升趋势（均P＜0.05）。结论  SIRT1基因可能不是江西地区汉族人群ACI发病的遗传易感基因。SIRT1基因rs7069102、rs2273773位点不同基因型影响ACI患者的颈总动脉IMT，且与ACI患者功能障碍程度存在一定相关性。

• Objective  To explore the relationship between silent information regulator 1 (SIRT1) rs7069102, rs2273773 gene polymorphisms and atherosclerosis cerebral infarction (ACI). Methods From September 4, 2016 to December 5, 2020, 238 Han patients with ACI (ACI group) and 238 cases of Han healthy person (control group) in the Affiliated Hospital of Jiangxi University of Chinese Medicine were enrolled. SIRT1 rs7069102 and rs2273773 gene polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism analysis, and their correlation with biochemical index, intima-media thickness(IMT) of common carotid artery and degree of dysfunction after cerebral infarction were analyzed. Results  There were no significant differences in genotypes and allele frequency of SIRT1 rs7069102 and rs2273773 between the two groups(all P>0.05). The level of high-density lipoprotein cholesterol in subjects with CC, CT, and TT genotypes of rs2273773 in control group had a downward trend［（1.60±0.46）,（1.35±0.31）,（1.24±0.27）mmol/L］（P＜0.05）. The level of IMT of common carotid artery in patients with CC genotype of rs7069102 was lower than that in patients with CG+GG genotypes in AMI group［（0.09±0.02）cm vs （0.11±0.02）cm］, and levels of glycosylated hemoglobin and IMT of common carotid artery had downward trends in patients with CC, CT and TT genotypes of rs2273773 in AMI group(all P<0.05). The simplified Fugl-Meyer Assessment (FMA) and modified Barthel index (MBI) scores in patients with CC genotype of rs7069102 were higher than those in patients with CG+GG genotypes in AMI group, and those in patients with CC, CT and TT genotypes of rs2273773 had upward trends (all P<0.05). Conclusions SIRT1 gene may not be a genetic susceptibility gene for the onset of ACI in the Han population of Jiangxi Province. Different genotypes of SIRT1 gene rs7069102 and rs2273773 affect IMT of common carotid artery in patients with ACI, and are correlated with degree of dysfunction.