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Foxp3-924(rs2232365)基因位点多态性与产后抑郁的相关性。方法 选取211例在越秀区光塔街社区卫生服务中心分娩的产妇进行回访研究,所有产妇均经PCR-SSP技术对Foxp3-924(rs2232365)基因位点分型。结果 对比产后抑郁组与对照组产妇Foxp3-924各种基因型频率,结果显示均无差异(P>0.05)。结论 产后抑郁和Foxp3-924(rs2232365)位点基因多态性无较大关联。

Objective To investigate the distribution of-924(rs2232365) genotypes and to explore the correlation between gene loci polymorphism and postpartum depression. Methods In puerpera in Yuexiu district Guangta street community health center, there were 211 cases of childbirth study visits, who were confirmed by PCR-SSP technique Foxp3-924 (rs2232365) gene locus genotyping. Results Compared postpartum depression group and control groupFoxp3-924 various genotypes, it showed no great difference (P> 0.05). Conclusion It has no greater relevance between postpartum depression and Foxp3-924 (rs2232365) polymorphism loci.

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．

       根据美国国家胆固醇教育计划成人组第三次报告NECP-ATPⅢ会议定义，当男性年龄＜55岁，女性年龄＜65岁诊断为冠状动脉粥样硬化性心脏病（冠心病）时即为早发冠心病（pCAD）。作为冠心病的特殊类型之一，pCAD发生多伴明显家族史。近年来随着早发冠心病患者人数呈明显上升趋势，且单核苷酸多态性（SNP）研究和全基因组关联研究的迅速发展，与早发冠心病相关的基因多态性研究成为热点。笔者利用多个文献数据库检索国内外相关文献，对近年早发冠心病的基因多态性研究进展予以综述，并尝试归纳总结出新的重点研究方向。

   According to the third meeting of the Adult Education Group of the Cholesterol Education Program of the United States（NECP-ATPⅢ），premature coronary artery disease（pCAD）is a disease diagnosed in men ＜55 years old and women ＜65 years old，which is a special form of CAD with multiple obvious family history．In recent years，with the increasing number of patients with pCAD，and the rapid development of single nucleotide polymorphism（SNP）and genome-wide association studies，the study of gene polymorphism related to premature coronary artery disease has become a hot topic．Several database were searched to collect relevant literature at home and abroad，and the research progress of gene polymorphism of premature coronary artery disease in recent years was summarized，and tried to provide new key research directions．