[1]蒋召芹,穆永芳,张彤彤,等.丝氨酸蛋白酶抑制剂A1和核受体亚家族1组I成员2基因多态性与缺血性脑血病患者阿托伐他汀降脂治疗的关系研究[J].陕西医学杂志,2026,(4):517-523.[doi:DOI:10.3969/j.issn.1000-7377.2026.04.015]
　JIANG Zhaoqin,MU Yongfang,ZHANG Tongtong,et al.Study of the relationship between SERPINA1 and NR1I2 gene polymorphisms and lipidlowering therapy with atorvastatin in patients with ischemic cerebrovascular disease[J].,2026,(4):517-523.[doi:DOI:10.3969/j.issn.1000-7377.2026.04.015]
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丝氨酸蛋白酶抑制剂A1和核受体亚家族1组I成员2基因多态性与缺血性脑血病患者阿托伐他汀降脂治疗的关系研究

《陕西医学杂志》[ISSN:1000-7377/CN:61-1281/TN]

卷:
期数:
2026年4期
页码:
517-523
栏目:
药物与临床
出版日期:
2026-04-05

文章信息/Info

Title:
Study of the relationship between SERPINA1 and NR1I2 gene polymorphisms and lipidlowering therapy with atorvastatin in patients with ischemic cerebrovascular disease
作者:
蒋召芹; 穆永芳; 张彤彤; 齐梦
（秦皇岛市第一医院急诊科，河北 秦皇岛 066000）
Author(s):
JIANG Zhaoqin; MU Yongfang; ZHANG Tongtong; QI Meng
（Emergency Department,Qinhuangdao First Hospital,Qinhuangdao 066000,China）
关键词:
缺血性脑血管病; 基因多态性; 丝氨酸蛋白酶抑制剂A1; 核受体亚家族1组I成员2; 阿托伐他汀; 降脂治疗
Keywords:
Ischemic cerebrovascular disease; Gene polymorphisms; Serine protease inhibitor A1; Nuclear receptor subfamily 1 group I member 2; Atorvastatin; Lipidlowering treatment
分类号:
R 743
DOI:
DOI:10.3969/j.issn.1000-7377.2026.04.015
文献标志码:
A
摘要:
目的：探究丝氨酸蛋白酶抑制剂A1（SERPINA1）和核受体亚家族1组I成员2（NR1I2）基因多态性与缺血性脑血管病患者阿托伐他汀降脂治疗的关系。方法：收集136例缺血性脑血管病患者资料进行回顾性队列研究，所有患者均给予阿托伐他汀20 mg/次，1次/d。采用限制性片段长度多态性聚合酶链反应（PCRRFLP）联合测序法测定SERPINA1 rs6647位点和NR1I2 rs13059232位点的基因型。比较治疗前及治疗1个月后不同基因型患者血清总胆固醇（TC）、甘油三酯（TG）、高密度脂蛋白（HDL-C）、低密度脂蛋白（LDL-C）水平变化；比较SERPINA1基因rs6647和NR1I2基因rs13059232位点不同表型患者治疗有效率的差异并记录药品不良反应发生情况；二元Logistic回归多因素分析SERPINA1和NR1I2基因多态性与降脂治疗疗效的关系。结果：治疗后，rs6647和rs13059232位点不同基因型患者血清TC、TG、LDL-C水平较治疗前降低，HDL-C水平较治疗前升高（均P<0.05）；rs6647位点AA基因型患者LDL-C水平明显低于GG型（P<0.05），血清TC，LDL-C变化率明显高于GG基因型（均P<0.05）；rs13059232位点TT基因型患者血清TC变化率明显高于CC基因型（P<0.05）。SERPINA1 rs6647位点和NR1I2 rs13059232位点不同基因型均与治疗疗效显著相关（均P<0.05）；rs6647位点AA基因型治疗有效率明显高于GG基因型（P<0.05）；rs13059232位点TT基因型治疗有效率明显高于CC基因型（P<0.05）。rs6647位点AA基因型患者降脂有效率显著高于GG型（OR =4.001，P=0.004），rs13059232位点CC基因型患者降脂有效率显著低于TT型（OR =0.354，P=0.034）。治疗期间，SERPINA1 rs6647位点和NR1I2 rs13059232位点不同基因型患者不良反应发生率比较，差异无统计学意义（均P>0.05）。结论：SERPINA1 rs6647位点AA基因型患者降脂幅度及降脂有效率高于AG基因型和GG基因型；NR1I2 rs13059232位点TT基因型患者降脂幅度及降脂有效率高于TC基因型和CC基因型，检测SERPINA1和NR1I2基因多态性对缺血性脑血管病患者应用他汀类药物降脂治疗具有一定临床指导意义。
Abstract:
Objective:To investigate the relationship between Serine protease inhibitor A1 （SERPINA1） and nuclear receptor subfamily 1 group I member 2 （NR1I2） gene polymorphisms and lipidlowering therapy with atorvastatin in patients with ischemic cerebrovascular disease.Treatment of ischemic cerebrovascular disease patients.Methods：Data of 136 patients with ischemic cerebrovascular disease were collected for a retrospective cohort study.All patients were given atorvastatin 20 mg each time,once a day.The genotypes of patients at the SERPINA1 rs6647 locus and NR1I2 rs13059232 locus were determined by combined restriction fragment length polymorphism polymerase chain reaction （PCRRFLP） sequencing.Serum total cholesterol （TC）、triglyceride （TG）、highdensity lipoprotein cholesterol （HDL-C）、lowdensity lipoprotein cholesterol （LDL-C）,and triglyceride （TG） were compared between the patients with different genotypes before treatment and after 1 month of treatment.density lipoprotein cholesterol （LDL-C） levels;to compare the differences in treatment efficacy between patients with different phenotypes at the rs6647 and rs13059232 loci of the SERPINA1 and NR1I2 genes,and to record the occurrence of adverse drug reactions.Binary Logistic regression multivariate analysis was conducted to investigate the relationship between SERPINA1 and NR1I2 gene polymorphisms and the efficacy of lipidlowering therapy.Results:After treatment,the levels of serum TC、TG and LDL-C in patients with different genotypes at the rs6647 and rs13059232 loci decreased compared with those before treatment,while the level of HDL-C increased compared with that before treatment （all P<0.05）；The LDL-C level of patients with AA genotype at rs6647 locus was significantly lower than that of GG genotype （PP<0.05）;The change rate of serum TC in patients with TT genotype at rs13059232 locus was significantly higher than that of CC genotype （P<0.05）.Different genotypes at the SERPINA1 rs6647 locus and the NR1I2 rs13059232 locus were significantly associated with the therapeutic efficacy （P<0.05）;The effective rate of AA genotype treatment at the rs6647 locus was significantly higher than that of GG genotype （all P<0.05）;The effective rate of TT genotype treatment at the rs13059232 locus was significantly higher than that of CC genotype （P<0.05）.The lipidlowering effective rate of patients with AA genotype at rs6647 locus was significantly higher than that of patients with GG genotype （OR =4.001,P=0.004）,and the lipidlowering effective rate of patients with CC genotype at rs13059232 locus was significantly lower than that of patients with TT genotype （OR =0.354,P=0.034）.During the treatment period,there was no statistically significant difference in the incidence of adverse reactions among patients with different genotypes at the SERPINA1 rs6647 locus and the NR1I2 rs13059232 locus （all P>0.05）.Conclusion:The lipid reduction amplitude and the effective rate of lipid reduction in patients with AA genotype at the SERPINA1 rs6647 locus were higher than those with AG genotype and GG genotype;The lipidlowering amplitude and effective rate of patients with TT genotype at NR1I2 rs13059232 locus were higher than those with TC genotype and CC genotype.Detecting the polymorphisms of SERPINA1 and NR1I2 genes has certain clinical guiding significance for the lipidlowering treatment of patients with ischemic cerebrovascular disease using statins.

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备注/Memo

备注/Memo:
国家自然科学基金资助项目（82174196）；河北省秦皇岛市科学技术研究与发展计划（202501A087）
更新日期/Last Update: 2026-04-05