目的 探讨载脂蛋白E（ApoE）基因多态性与卒中后认知障碍的相关性,即大动脉粥样硬化型脑梗塞的严重程度。方法 采用病例——对照研究的方法,收集九江学院附属医院神经内科的100例急性缺血性脑卒中且病因分型为大动脉粥样硬化型患者（脑梗死组）和50例性别、年龄匹配的非缺血性脑卒中患者（对照组）。检测患者的 ApoE 基因型、血脂、美国国立卫生院卒中量表（NIHSS）、卒中后6个月简易智力状态检查量表（MMSE）等,采用多因素方差分析等统计学方法分析他们之间的关联性。结果 ApoE 3/4基因型频率与Ɛ3、Ɛ4等位基因频率,在脑梗死组别中高于对照组（P<0.05）。同时,携带Ɛ3等位基因患者的低密度脂蛋白水平高于携带Ɛ2、Ɛ4等位基因的患者;进一步分析发现含Ɛ3等位基因的脑梗死患者NIHSS评分更高、卒中后认知障碍更严重（P<0.05）。结论 ApoE基因型为Ɛ3/4、等位基因Ɛ3、Ɛ4更易罹患大动脉粥样硬化型脑梗死,提示该基因型是脑梗死的易感基因,脑梗死后认知障碍患者Ɛ3等位基因的频率较高,可能是卒中后认知障碍的易感因素。

Objective To explore the relationship between ApoE gene polymorphisms and post-stroke cognitive impairment,the severity of large artery atherosclerotic cerebral infarction．Methods A case-control research study was conducted,gathering data from 100 individuals diagnosed with large artery atherosclerotic cerebral infarction according to the TOAST classification,who admitted to the Neurology Department of the Affiliated Hospital of Jiujiang University．Additionally,50 non-ischemic stroke patients,matched for gender and age,were included as the control group．The patients were assessed for ApoE genotype,blood lipid,NIHSS,and MMSE scale at 6 months post-stroke,and statistical methods were used to analyze their associations．Results Significant differences were observed in the ApoE 3/4 genotype frequency and Ɛ3、Ɛ4 allele frequency between patients with cerebral infarction and the control group,with a notably higher incidence of cerebral infarction in the former．Furthermore,patients carrying the Ɛ3 allele exhibited significantly higher LDL levels than those carrying Ɛ2 or Ɛ4．The analysis also revealed that patients with the Ɛ4 allele experienced higher NIHSS and severer post-stroke cognitive impairment．Conclusions The findings suggest that the ApoE genotype Ɛ3/4 and allele Ɛ3、Ɛ4 may predispose individuals to develop large atherosclerotic cerebral infarction,indicating a susceptibility gene for cerebral infarction．Additionally,the Ɛ3 allele was associated with a higher frequency of cognitive deficits after cerebral infarction,implying that it may be a predisposing factor for post-stroke cognitive impairment．

目的 探讨急性心肌梗死患者细胞色素P450酶基因(cytochrome P450,family 2,subfamily C,polypeptide 19,CYP2C19)多态性与高敏C-反应蛋白(hypersensitive C-reactive protein,hs-CRP)、白细胞介素-6(interleukin- 6,IL-6)及临床预后的相关性。方法 选取2019年5月—2020年5月入住我院心血管内科的急性心肌梗死患者182例作为研究对象,研究对象均接受经皮冠脉介入术,采取RT-PCR方法进行外周全血CYP2C19基因多态性的检测,并进行分组。口服阿司匹林300 mg和氯吡格雷300 mg后次日,测定血中hs-CRP和IL-6含量,治疗后12个月内,随访主要心血管不良事件。结果 182例急性心肌梗死患者中,快代谢组(CYP2C19*1/*1)患者最多,为78例(42.8%);中等代谢组(CYP2C19*1/*2、CYP2C19*1/*3),为65例(35.7%);慢代谢型组(CYP2C19*2/*2、CYP2C19*2/*3、CYP2C19*3/*3)最少,为39例(21.5%)。与快代谢组比较,中代谢组及慢代谢组hs-CRP、IL-6水平均升高,差异有统计学意义(P<0.05);与中代谢组比较,慢代谢组患者hs-CRP、IL-6水平均升高,差异有统计学意义(P<0.05)。CYP2C19基因型与hs-CRP及IL-6呈正相关(r=0.163、0.175,P<0.05)。中代谢组、慢代谢组患者1年内主要心血管不良事件发生率高于快代谢组患者(P<0.05)。结论 CYP2C19基因型与hs-CRP及IL-6具有相关性,CYP2C19基因型为中代谢型和慢代谢型能够激活机体炎症反应,影响急性心肌梗死患者的临床预后。

Objective To explore the correlation of cytochrome P450 gene (CYP2C19) polymorphism with hypersensitive C-reaction protein (hs-CRP), interleukin-6 (IL-6) and prognosis in patients with acute myocardial infarction (AMI). Methods A total of 182 patients with AMI admitted to cardiology department from May 2019 to May 2020 were selected as the research objects, all subjects underwent percutaneous coronary intervention (PCI), and CYP2C19 gene polymorphism in peripheral blood was detected by RT-PCR, which was grouping basis. One day after taking aspirin 300 mg and clopidogrel 300 mg orally, the levels of hs-CRP and IL-6 in patients' plasma were measured. The major adverse cardiovascular events (MACE) were followed up for 12 months after treatment. Results Among 182 patients with AMI, 78 patients (42.8%) were in the fast metabolism group (CYP2C19*1/*1), 65 patients (35.7%) in medium metabolism group (CYP2C19*1/*2, CYP2C19*1/*3), 39 patients (21.5%) in the slow metabolism group (CYP2C19*2/*2, CYP2C19*2/*3, CYP2C19*3/*3).Compared with the fast metabolism group, hs-CRP and IL-6 levels in the medium and slow metabolism group were significantly higher (P<0.05); compared with the medium metabolism group, hs-CRP and IL-6 levels in the slow metabolism group were significantly increased (P<0.05). CYP2C19 genotype was positively correlated with hs-CRP and IL-6 levels (r=0.163, 0.175,P<0.05). The incidences of MACE in the medium and slow metabolism groups were higher than that in the fast metabolism group (P<0.05). Conclusion CYP2C19 genotypes were associated with hs-CRP and IL-6 levels. Medium and slow metabolism types of CYP2C19 gene can activate the inflammatory response and affect the clinical prognosis of patients with AMI.

目的 分析芳香化酶(CYP19)基因多态性与子宫内膜异位症(endometriosis,EMs)术后复发的关系。方法 回顾性分析2019年2月—2020年2月于我院接受手术的110例EMs患者临床资料,按照术后12个月是否复发分为未复发组(62例)、复发组(48例),通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术测定两组CYP19基因115T/C、240A/G、1531C/T位点的单核苷酸多态性(single nucletide polymorphism,SNP),并分析不同位点对应VAS评分、r-AFS评分的差异。结果 复发组CYP19基因115T/C、1531C/T位点不同基因型及等位基因频率与未复发组相比,差异均无统计学意义(P＞0.05);复发组CYP19基因240A/G位点AG基因型频率比未复发组高(P＜0.05),AA基因型频率比未复发组低(P＜0.05);两组240A/G位点等位基因频率相比,差异有统计学意义(P＜0.05);CYP19基因240A/G位点AG 型VAS评分、r-AFS评分＞GG型＞AA型,差异有统计学意义(P＜0.05);CYP19基因115T/C、1531C/T位点不同基因型的VAS评分、r-AFS评分相比,差异均无统计学意义(P＞0.05)。结论 CYP19基因240A/G位点多态性与EMs术后复发、疼痛程度及病情密切相关,且携带G等位基因的基因型(AG+GG)可能是术后复发的风险因素。

Objective To analyze the relationship between aromatase (CYP19) gene polymorphism and recurrence of endometriosis (EMs) after surgery. Methods The clinical data of 110 patients with EMs who underwent the operation in our hospital from February 2019 to February 2020 were analyzed retrospectively. The patients were divided into non-relapsing group (62 cases) and relapsing group (48 cases) by 12 months followed-up outcomes. The single nucleotide polymorphism (SNP) of 115T/C, 240A/G and 1531C/T sites of CYP19 gene were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and the differences of VAS and r-AFS scores between the two groups were analyzed. Results The genotypes and allele frequencies of 115T/C and 1531C/T of CYP19 gene in relapsing group were not significantly different from those in non-relapsing group (P>0.05). The AG genotype frequency of 240A/G site of CYP19 gene in relapsing group was higher than that in non-relapsing group (P<0.05), while the AA genotype frequency was significantly lower than that in non-relapsing group (P<0.05). There were significant differences in the allele frequencies of 240A/G site (P<0.05). The scores of VAS and r-AFS of AG＞GG＞AA, with significant differences (P<0.05). There were no significant differences in the VAS and r-AFS scores of CYP19 gene at 115T/C and 1531C/T site (P>0.05). Conclusion The 240A/G polymorphism of the CYP19 gene is closely related to postoperative recurrence, pain degree and condition of EMs, and the genotypes carrying the G allele (AG+GG) may be the risk factor of postoperative recurrence.

目的 探讨精神分裂症患者载脂蛋白E基因多态性与血清ApoE浓度、血脂、心血管疾病发生风险的相关性。方法 收集住院精神分裂症患者116例,记录一般资料和测定患者载脂蛋白E基因(APOE)、载脂蛋白E(ApoE)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)、心血管疾病发生风险评分(Framingham risk score,FRS)等指标。结果 ①APOEε2、ε3、ε4不同等位基因组精神分裂症患者TC、载脂蛋白E、FRS评分差异有统计学意义(P=0.01,P=0.005,P=0.012)。②载脂蛋白E与TC、FRS评分存在负相关关系(r_s=-0.48,P=0.02;r_s=-0.52,P=0.04),APOE ε4等位基因组载脂蛋白E与TC、FRS评分存在更高的相关关系(r_s=-0.55,P<0.001;r_s=-0.63,P=0.04)。结论 精神分裂症患者ApoE基因多态性与载脂蛋白E、胆固醇、FRS评分存在关联,ApoE基因-载脂蛋白E-胆固醇代谢通路可能是精神分裂症患者心血管疾病的致病机制之一。

目的 探讨载脂蛋白E基因多态性在COPD患者合并AD中的意义。方法 通过病例资料进行回顾性研究,收集慢性阻塞性肺疾病70例,阿尔茨海默病81例,健康对照人群566例,进行统计分析。结果 “AD组”和“COPD合并AD组”的LDL水平高于“COPD未合并AD组”;“COPD组”的ApoE水平高于“AD组”,且在“COPD组”中,未合并AD者的ApoE水平明显高于合并AD者;“COPD组”的ε3/ε4基因型均少于“AD组”,且“COPD未合并AD组”的ε3/ε4基因型明显少于“COPD合并AD组”;“AD组”及“COPD合并AD组”的ε4等位基因频率多于“COPD组”及“COPD未合并AD组”;“COPD合并AD组”的ε3/ε3基因型少于“健康对照组”,而ε2/ε4基因型则多于“健康对照组”;“COPD组”的ε3/ε4基因型多于“健康体检组”;“COPD合并AD组”的ε3/ε4基因型多于“健康体检组”;“COPD合并AD组”的ε4等位基因频率高于“健康对照组”。结论 ApoE基因多态性不但参与COPD患者认知功能受损甚至合并AD,而且可能通过影响脂质代谢,参与COPD的发生发展;ApoE的ε4等位基因可能是COPD和AD患病的共同危险因素。

目的 探讨广东汉族儿童ACE2基因A9570G多态性与儿童激素敏感型肾病综合征(SSNS)复发的关系。方法 选取广东汉族SSNS患儿92例,按发病后1年复发情况分为频复发组31例、非频复发组61例,健康体检者60例为对照组,采用聚合酶链反应-DNA直接测序技术观察患儿与对照组ACE2基因A9570G基因型分布和等位基因频率。结果 在女性,SSNS组G等位基因频率及GG基因型分布均低于对照组(39％ vs 65％,P<0.05;27％ vs 50％,P<0.05);在男性,SSNS组G等位基因/GG基因型分布亦低于对照组(35％ vs 60％,P<0.05 )。亚组分析发现,在女性,频复发组G 等位基因频率及GG 基因型分布均高于非频复发组(58％ vs 29％,P<0.05;42％ vs 19％,P<0.05);在男性,频复发G基因型/G等位基因频率高于非频复发(58％ vs 24％,P<0.05)。结论 ACE2基因A9570G多态性与儿童SSNS复发相关,携带G等位基因的患儿容易表现为频复发。

Objective To investigate the association between the A9570G polymorphism of ACE2 gene and the relapse of steroid-sensitive nephrotic syndrome (SSNS) in Han childhood of Guangdong.Methods Ninety-two children with SSNS were selected from Guangdong Han nationality. According to the relapse frequency during the first year of the disease, 31 cases with more than 3 relapses were as frequency relapse group, 61 cases with less than 3 relapses were as non-frequent relapse group, and 60 healthy children were as control group. The gene distribution and allele frequency of ACE2 gene A9570G were observed by polymerase chain reaction-DNA direct sequencing technology.Results In female,the distribution of G allele frequency and GG genotype in SSNS group were significantly lower than that in the control group(39％ vs 65％, P<0.05; 27％ vs 50％, P<0.05). In male, the distribution of G allele/GG genotype in SSNS group was also significantly lower than that in the control group(35% vs 60%, P<0.05). Subgroup analysis found that the distribution of G allele frequency and GG genotype in female of the frequency relapse group were significantly higher than that of the non-frequency relapse group(58% vs 29%, P<0.05; 42% vs 19%, P<0.05), and the distribution of G allele/GG genotype in male of the frequency relapse group was significantly higher than that of the non-frequency relapse group (58% vs 24%, P<0.05).Conclusion The A9570G polymorphism of ACE2 gene was associated with the recurrence of children's SSNS, and the children with G allele were susceptible to recurrence.

目的 探讨逍遥散治疗首发抑郁症的疗效与5-HT2A受体基因多态性的关联。方法 采用病例对照研究方法,以120例首发抑郁症患者(研究组)和120例正常人(对照组)为研究对象,研究组予逍遥散治疗,疗程8周。于治疗前后采用汉密顿抑郁量表评定。采用高温连接酶检测反应法(LDR)检测5-HT2A受体基因,分析其与抗抑郁药物疗效的关系。结果 5-HT2A受体基因(T102C)T／C基因型、C／C基因型频率及等位基因频率与对照组相比差异无统计学意义(P﹥0.05)。不同基因型的疗效无差异(P﹥0.05)。结论 5-HT2A受体基因(T102C)多态性与逍遥散治疗抑郁症的疗效无关联。

目的 探讨CYP2C19不同基因分型对急性冠状动脉综合征(ACS)患者服用氯吡格雷后血小板聚集率的影响。方法 选取2015年1月—2016年3月入住心内科的ACS患者258例为研究对象。入院时及服用氯吡格雷三日后分别抽取静脉血检测血小板聚集率及CYP2C19基因型。结果 快代谢型组(extensive metabolisers, EM)和中代谢型组(intermediate metabolisers, IM)服药前后血小板最大聚集率分别为(58.76±15.45)% vs(35.17±10.26)%和(59.35±11.58)% vs(47.66±12.59)%(P<0.05), 而慢代谢型组(poor metabolisers, PM)的血小板最大聚集率无明显降低。快代谢型组的最大血小板聚集率的降低幅度比慢代谢型组大(23.58±12.39% vs 11.65±13.56%,P<0.05)。 共有33例(12.79%)患者为氯吡格雷抵抗, 其中快代谢型组中氯吡格雷抵抗者2例(1.67%), 中代谢型组中氯吡格雷抵抗者3例(2.80%), 慢代谢型组中氯吡格雷抵抗者28例(90.32%) (三组比较P=0.038)。结论 ACS患者CYP2C19基因分型与服用氯吡格雷后血小板最大聚集率有关,与氯吡格雷抵抗有关。

Objective To explore the relationship between platelet aggregation rate and CYP2C19 gene polymorphisms. Methods A total of 258 cases diagnosed as acute coronary syndrome (ACS) from January 2015 to March 2016. The platelet aggregation rate was tested before and 3 days after taking clopidogrel. CYP2C19 gene polymorphisms was tested by Gene chip hybridization technique. Results The platelet aggregation rate before and after taking clopidogrel was(58.76±15.45)% vs(35.17±10.26)% and(59.35±11.58)% vs(47.66±12.59)%(P<0.05)in EM group and IM group. But there was no change in PM group. The PM group were associated with a significant increase risk of clopidogrel resistance compared with EM group and IM group. Conclusion CYP2C19 gene polymorphisms influence the rate of platelet aggregation rate after taking clopidogrel and are associated with clopidogrel resistance in ACS patients.

目的 研究血管紧张素转换酶(ACE)基因插入/缺失(I/D)多态性与新疆地区维吾尔族(维族)、汉族人群原发性高血压(EH)的关系。方法 采用聚合酶链反应(PCR)检测此两类人群104例原发性高血压(病例组、EH)及102例健康人群(对照组、NT)血中ACE基因16号内含子的I/D多态性。统计各基因型频率、等位基因频率,并采用Logistic回归分析剔除混杂因素后ACE基因I/D多态性与EH的关系。结果 两族人群的EH组与NT组D等位基因频率及基因型频率差异均没有统计学意义(P>0.05)。但经Logistic回归分析校正各种混杂因素后,两族人群EH的发病率与ACE基因(I/D)多态性相关(P<0.05)。结论 ACE基因I/D多态性可能为新疆地区维族、汉族EH的易感因素。

Objective To investigate whether the insertion deletion(I/D) polymorphism in the angiotensin converting enzyme(ACE) gene is associated with essential hypertension(EH) in Uighur and Han population of Xinjiang. Methods The study covered 104 hypertension patients (EH) and 102 normotensive controls (NT). The variant of ACE I/D was determined by polymorphism chain reaction (PCR). Logistic was used to analyze the ACE I/D polymorphism compared with ACE genotype. Results There was no significant difference between the EH and NT group about the genotype frequency and allele frequency(P>0.05). Using logistic regression analysis, adjusted for confounding factor, there was a relationship between EH and ACE gene I/D polymorphism(P<0.05). Conclusion The results suggest that the I/D polymorphism of ACE gene is associated with the EH in the Uighur and Han people of Xinjiang.

      目的   探讨载脂蛋白E（ApoE）基因多态性与卒中后认知障碍的相关性，即大动脉粥样硬化型脑梗塞的严重程度。方法   采用病例——对照研究的方法，收集九江学院附属医院神经内科的100例急性缺血性脑卒中且病因分型为大动脉粥样硬化型患者（脑梗死组）和50例性别、年龄匹配的非缺血性脑卒中患者（对照组）。检测患者的 ApoE 基因型、血脂、美国国立卫生院卒中量表（NIHSS）、卒中后6个月简易智力状态检查量表（MMSE）等，采用多因素方差分析等统计学方法分析他们之间的关联性。结果  ApoE 3/4基因型频率与Ɛ3、Ɛ4等位基因频率，在脑梗死组别中高于对照组（P＜0.05）。同时，携带Ɛ3等位基因患者的低密度脂蛋白水平高于携带Ɛ2、Ɛ4等位基因的患者；进一步分析发现含Ɛ3等位基因的脑梗死患者NIHSS评分更高、卒中后认知障碍更严重（P＜0.05）。结论  ApoE基因型为Ɛ3/4、等位基因Ɛ3、Ɛ4更易罹患大动脉粥样硬化型脑梗死，提示该基因型是脑梗死的易感基因，脑梗死后认知障碍患者Ɛ3等位基因的频率较高，可能是卒中后认知障碍的易感因素。

       Objective  To  explore the  relationship  between ApoE  gene  polymorphisms  and  post-stroke  cognitive  impairment，the severity of large artery atherosclerotic cerebral infarction．Methods  A  case-control research  study was conducted，gathering  data from  100 individuals  diagnosed with large artery atherosclerotic cerebral infarction according to the TOAST classification，who admitted to the Neurology Department of the Affiliated Hospital of Jiujiang University．Additionally，50 non-ischemic stroke patients，matched for gender and age，were included as the control group．The patients were assessed for ApoE genotype，blood lipid，NIHSS，and MMSE scale at 6 months post-stroke，and statistical methods were used to analyze their associations.  Results  Significant differences were observed in the ApoE 3/4 genotype frequency and Ɛ3、Ɛ4 allele frequency between patients with cerebral infarction and the control group，with a notably higher incidence of cerebral infarction in the former．Furthermore，patients carrying the Ɛ3 allele exhibited significantly higher LDL levels than those carrying Ɛ2 or Ɛ4．The analysis also revealed that patients with the Ɛ4 allele experienced higher NIHSS and severer post-stroke cognitive impairment．Conclusions  The findings suggest that the ApoE genotype Ɛ3/4 and allele Ɛ3、Ɛ4 may predispose individuals to develop large atherosclerotic cerebral infarction，indicating a susceptibility gene for cerebral infarction．Additionally，the Ɛ3 allele was associated with a higher frequency of cognitive deficits after cerebral infarction，implying that it may be a predisposing factor for post-stroke cognitive impairment．