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·论著·SYSTEMS MEDICINE 系统医学系统医学2018年7月第3卷第13期DOI:10.19368/ki.2096-1782.2018.13.007冠心病患者CD14基因多态性与超敏C 反应蛋白水平的相关性探讨邹艳惠,刘颖,李默郁,陈立涛,张雪莲吉林省人民医院心内科,吉林长春130021[摘要]目的探讨冠心病患者白细胞分化抗原(CD14)基因多态性与超敏C 反应蛋白水平(Hs-CRP)的相关性。
方法选取2016年5月—2017年5月该院收治的冠心病患者120例,应用合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对患者CD14基因进行测定,同时检测患者体内Hs-CRP 水平,并分析CD14基因多态性与超敏C 反应蛋白水平间的关系。
结果分析CD14基因的酶切图像结果以及基因型,结果显示:CD14基因(-260)多态性PCR 扩增片段的大小为560bp。
对120例患者的基因型进行统计,主要基因型为TT、TC、CC,患者例数依次为53例(44.2%)、41例(34.1%)、26例(21.7%),基因型符合Hardy-Weinberg 平衡;CD14基因(-260)CT 的多态性与年龄、性别、吸烟史、高血压病史、糖尿病病史、LDL-C、HDL-C、TC、TG 间差异无统计学意义(P>0.05);TT、TC、CC 各基因型患者的Hs-CRP 的血浆水平分别为(4.5±2.0)、(2.1±1.0)、(2.9±1.1)mg/L,3组患者比较差异有统计学意义(P<0.05)。
结论TT 纯合子的冠心病患者炎症反应最强烈,因此CD14基因变异与超敏C 蛋白水平密切相关。
[关键词]冠心病;CDl4;基因多态性;Hs-CRP [中图分类号]R541.4[文献标识码]A[文章编号]2096-1782(2018)07(a)-0007-03Study on Correlation between the CD14Gene Polymorphism and Hyper⁃sensitivity C Reactive Protein Level of Patients with Coronary Heart DiseaseZOU Yan-hui,LIU Ying,LI Mo-yu,CHEN Li-tao,ZHANG Xue-lianDepartment of Cardiology,Jilin Provincial People’s Hospital,Changchun,Jilin Province,130021China[Abstract]Objective To study the correlation between the CD14gene polymorphism and hypersensitivity C reactive protein level of patients with coronary heart disease.Methods 120cases of patients with coronary heart disease admit⁃ted and treated in our hospital from May 2016to May 2017were selected,and the CD14gene polymorphism was mea⁃sured by PCR-RFLP,at the same time,the Hs-CRP level of patients was tested,and the correlation between the CD14gene polymorphism and hypersensitivity C reactive protein level was analyzed.Results The analysis results of enzyme cut image of CD14gene and gene type showed that the size of (-260)polymorphic PCR amplification fragment of CD14gene was 560bp,and the statistics of genes of 120cases of patients showed that the major gene types were TT,TC,CC,and the case numbers were 53cases (44.2%),41cases (34.1%),26cases (21.7%),and the gene type was in line with Hardy-Weinberg balance,and the polymorphism of CD14gene (-260)CT had no statistical significance with the age,gender,smoking history,hypertension history,diabetes history,LDL-C,HDL-C,TC,TG (P>0.05),and blood plas⁃ma levels of Hs-CRP of patients with TT,TC,CC were respectively (4.5±2.0),(2.1±1.0),(2.9±1.1)mg/L,and the differ⁃ences between the three groups were statistically significant (P<0.05).Conclusion The inflammatory reactions of coro⁃nary heart disease patients with TT homozygote is the strongest,therefore,the CD14gene mutation is closely related to the hypersensitivity C protein level.[Key words]Coronary heart disease;CDl4;Genepolymorphism;Hs-CRP[基金项目]吉林省卫生厅课题;项目名称:冠心病与CD14相关性及他汀类药物干预作用的研究(2010ZC038)。
CD14基因启动子多态性与冠心病的关系(一)作者：韦叶生，刘运广，唐任光，蓝景生【关键词】冠状动脉疾病AssociationbetweenCD14genepromoterregionpolymorphismsandcoronary heartdisease【Abstract】AIM:TostudytheallelefrequenciesandgenotypedistributionofCD14genepro moterregion-159C/T,-260C/TpolymorphismsinChinesepatientswithcoronar yheartdisease(CHD),andtoanalyzetheassociationbetweentheserumlevelsan dgenotypesofCD14andCHD.METHODS：ThepolymorphismsofCD14genewereanalyzedbythepolymerasechainreacti onrestrictionfragmentlengthpolymorphism(PCRRFLP)methodsin246patient swithCHDand258healthycontrols,andtheserumlevelsofCD14weredetermin edbyenzymelinkedimmunosorbentassay(ELISA).RESULTS：TheCHDgroupshowedsignificantlyhigherserumlevelsofCD14thancontrolgro up(P0.01);ThedistributionofCD14gene-159C/Tpolymorphismwasnotdiffere ntbetweenCHDgroupandcontrolgroup(P>0.05);buttheCD14gene-260C/Tpol ymorphismwassignificantlydifferent(P0.05).TherelativeriskforCHDinTallelec arrierswas1.417timesashighasthatinCallelecarriers(OR=1.417，95%CI：1.106-1.816）,andtheserumlevelofCD14inTallelecarrierswassignificantlyhi gherthanthatinnoncarriers(P0.05).CONCLUSION：CD14genepromoterregion-260C/TpolymorphismisassociatedwithCHD;andT allelemaybeariskfactorforCHD;soTallelecarriershaveahigherriskforCHDbyin creasingtheCD14expression.【Keywords】coronarydisease;CD14;genepolymorphism【摘要】目的：研究白细胞分化抗原14(CD14)基因启动子159C/T，260C/T多态性各等位基因及基因型在冠心病患者中的分布频率，分析CD14基因型及血清CD14水平与冠心病的相关性.方法：采用聚合酶链反应限制性片段长度多态性(PCRRFLP)技术，检测246例冠心病患者及258名正常人对照组CD14的基因多态性，同时采用酶联免疫吸附试验(ELISA)检测血清CD14水平.结果：冠心病组血清CD14水平显著高于对照组(P0.01)，CD14基因159C/T多态性在冠心病组和正常人群中的分布差异无显著性（P>0.05），而CD14基因260C/T多态性在两组人群中的分布差异存在显著性（P0.05），等位基因频率的相对风险分析发现，T 等位基因携带者患冠心病的风险是C等位基因的1.417倍(OR=1.417，95%CI：1.106～1.816)，携带T等位基因的冠心病患者血清CD14水平显著高于不携带者(P0.05).结论：CD14基因启动子260C/T多态性与冠心病的发病具有相关性，其中T等位基因可能是冠心病发病的遗传易感基因；携带T等位基因的个体可能通过促进CD14的高度表达进而增加了冠心病的发病风险.【关键词】冠状动脉疾病；CD14；基因多态性0引言冠心病（coronaryheartdisease，CHD）是严重危害中、老年人生命健康的疾病.其病因和发病机制尚未完全阐明，但细胞因子在其中的作用越来越受到重视.白细胞分化抗原14(clusterofdifferentiationantigen14，CD14)是最近几年倍受关注的一种多功能炎症细胞因子，主要由成熟的单核巨噬细胞所产生，它在炎症、免疫反应及动脉粥样硬化形成中起着重要作用，并且与心血管疾病存在着密切关系〔1〕.但CD14在冠心病中异常表达的分子遗传学机制尚不清楚.本研究采用聚合酶链反应限制性片段长度多态性(PCRRFLP)和酶联免疫吸附试验(ELISA)的方法，拟探讨CD14基因多态性及血清水平与冠心病的关系，阐明基因型与表型之间的联系，为揭示冠心病的发病机制提供一定的理论依据.1对象和方法1.1对象冠心病组：246（男175，女71）例，年龄41～87(61.3±10.8)岁，均为右江民族医学院附属医院心血管内科的住院患者，冠心病诊断符合1979年世界卫生组织(WHO)制定的标准，并排除糖尿病、家族性高胆固醇血症、甲状腺疾病、肾脏疾病、肝脏疾病等.对照组：258（男176，女82）例，年龄37～83(59.7±11.2)岁，均为在右江民族医学院附属医院经常规体检，心电图，X线胸片等检查排除了心、脑、肝、肾等疾病的健康体检者.研究对象为广西地区非血缘个体.1.2方法采用已建立的改良碘化钠法〔2〕提取白细胞基因组DNA，-70℃保存备用.PCR扩增：参照文献〔3-4〕设计两对引物，由北京赛百盛有限公司合成.用于特异性扩增CD14基因包含159位点的一段DNA引物序列，上游引物为：5＇GTGCCAACAGATGAGGTTCAC3＇；下游引物为：5＇GCCTCTGACAGTTTATGTAATC3＇；扩增CD14基因包含260位点的一段DNA 引物序列，上游引物为：5＇TGGCCTAAGGCACTGAGGATCAT3＇；下游引物为：5＇TCAGTTCCCTCCTCTGTGAACCC3＇.CD14的PCR扩增反应体系均为50μL，其中含10×PCR缓冲液5.0μL，2.5mmol/LdNTPs4.0μL，上、下游引物各40pmol/L，模板DNA10.0μL，TaqDNA聚合酶2.5U，不足体积用灭菌双蒸水补足至50μL.置热循环仪(TC48/H型)中94℃预变性3min；再按下列程序循环35次，即94℃变性45s，59℃退火1min，72℃延伸1min；末次循环后，72℃延伸5min.分别取PCR扩增产物10μL，用5U限制性内切酶AvaII酶切CD14基因159位点，37℃孵育2h；用5U限制性内切酶HaeIII酶切CD14基因260位点，37℃孵育3h，反应终止后，消化片段分别在20和25g/L琼脂糖凝胶上电泳，EB染色，染色后经紫外灯判断结果并拍照.采用ELISA测定可溶性CD14(sCD14)的血清水平，每次测定均严格按说明书操作.酶法测定血清总胆固醇（TC）和甘油三酯(TG)；遮蔽法直接测定高密度脂蛋白胆固醇(HDLC)和低密度脂蛋白胆固醇(LDLC)；apoAI，apoB用双波长免疫透射比浊法测定.以上测定均在7060型(日本产)全自动生化分析仪上进行，每次测定均选用高、中、低3种质控样品进行质控，以上项目检测质控均符合英国RIQAS 国际质控标准.统计学处理：用SPSS10.0软件包进行分析.基因型和等位基因频率采用基因直接计数法计算，各组间基因型及等位基因频率比较采用χ2检验，并以比值比（OR）及其95%可信区间（95%CI）估计相对危险度.计量资料用x±s或Md（QR）表示，各组间指标比较依据指标性质，用t检验、非参数秩和检验.P0.05为差异有统计学意义.。
脂联素基因多态性与冠心病的相关性阎娇娟;张春艳;王聪霞【摘要】Objective To investigate the relationship between adiponectinrs266729 and rs1501299 gene polymorphism and the risk of coronary heart disease(CHD).Methods The adiponectin rs266729 and rs1501299 single nucleotide polymorphism(SNP) were geno typed in CHD patients(n =105) and non-CHD patients(n =75) using matrix-assisted laser desorption/ionization-time of flight(MALDI-TOF).The genotype and the frequency of each genotype and allele were determined.Results There was statistical difference in rs1501299 genotypes and allele gene between CHD group and control group(both P ＜ 0.05).The frequency distribution of each genotype and allele gene of rs266729 showed no statistical difference between CHD group and control group (both P ＞ 0.05).Logistic regression analysis revealed that adiponectin rs1501299 locus with G allele was independently associated with CHD(OR =1.731,95％ CI 1.091-2.747,P ＜ 0.05).Conclusion The rs1501299 site may be associated with the incidence of CHD,and the G allele may be the genetic susceptibility gene for CHD.%目的探讨中国陕西地区汉族人群脂联素基因rs266729和rs1501299两个位点的多态性是否是冠心病的遗传易感因素. 方法应用聚基质辅助激光解吸附电离飞行时间质谱方法(matrix-assisted laser desorption ionization-time of flight,MAL-DI-TOF),检测105例冠心病患者和75例非冠心病患者的脂联素基因2个位点rs266729、rs1501299的单核苷酸多态性(singlenueleotide polymorphism,SNP),判定其基因型并统计各基因型及等位基因的频率. 结果rs1501299的基因型以及等位基因频率在冠心病组和对照组间差异有统计学意义(均P ＜0.05);rs266729的基因型以及等位基因频率在冠心病组和对照组间差异无统计学意义(均P＞0.05);应用Logistic回归分析调整了其他相关因素后显示,rs1501299位点携带G等位基因为冠心病发病的独立危险因素(OR=1.731,95％CI l.091-2.747,P＜0.05). 结论 rs1501299位点可能与冠心病发病相关,G等位基因可能是冠心病的遗传易感基因.【期刊名称】《山西医科大学学报》【年(卷),期】2017(048)009【总页数】4页(P879-882)【关键词】冠心病;脂联素;单核苷酸多态性【作者】阎娇娟;张春艳;王聪霞【作者单位】铜川市人民医院心血管内科,铜川727000;西安交通大学第二附属医院心血管内科;西安交通大学第二附属医院心血管内科【正文语种】中文【中图分类】R541.4脂联素(adiponectin,APN)是一种脂肪细胞分泌的特异性细胞因子,研究表明脂联素与胰岛素抵抗、2型糖尿病、肥胖、动脉粥样硬化等密切相关[1],已成为目前研究的热点,但其多位点的基因多态性与冠心病的相关性目前国内外研究结论不一[2]。
冠心病患者CD14基因多态性与超敏C反应蛋白水平的相关性探讨邹艳惠;刘颖;李默郁;陈立涛;张雪莲【期刊名称】《系统医学》【年(卷),期】2018(003)013【摘要】目的探讨冠心病患者白细胞分化抗原(CD14)基因多态性与超敏C反应蛋白水平(Hs-CRP)的相关性.方法选取2016年5月—2017年5月该院收治的冠心病患者120例,应用合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对患者CD14基因进行测定,同时检测患者体内Hs-CRP水平,并分析CD14基因多态性与超敏C反应蛋白水平间的关系.结果分析CD14基因的酶切图像结果以及基因型,结果显示:CD14基因(-260)多态性PCR扩增片段的大小为560 bp.对120例患者的基因型进行统计,主要基因型为TT、TC、CC,患者例数依次为53例(44.2％)、41例(34.1％)、26例(21.7％),基因型符合Hardy-Weinberg平衡;CD14基因(-260)CT的多态性与年龄、性别、吸烟史、高血压病史、糖尿病病史、LDL-C、HDL-C、TC、TG间差异无统计学意义(P>0.05);TT、TC、CC各基因型患者的Hs-CRP的血浆水平分别为(4.5±2.0)、(2.1±1.0)、(2.9±1.1)mg/L,3组患者比较差异有统计学意义(P<0.05).结论 TT纯合子的冠心病患者炎症反应最强烈,因此CD14基因变异与超敏C蛋白水平密切相关.【总页数】3页(P7-8,21)【作者】邹艳惠;刘颖;李默郁;陈立涛;张雪莲【作者单位】吉林省人民医院心内科,吉林长春 130021;吉林省人民医院心内科,吉林长春 130021;吉林省人民医院心内科,吉林长春 130021;吉林省人民医院心内科,吉林长春 130021;吉林省人民医院心内科,吉林长春 130021【正文语种】中文【中图分类】R541.4【相关文献】1.冠心病患者CD14基因多态性与超敏C反应蛋白水平的相关性研究 [J], 熊小泉;李艳;黄宪章;石文2.冠心病患者CD14基因多态性与高敏C反应蛋白水平的关系 [J], 洪本谷;徐耕;应志强;金国栋3.冠心病患者CD14基因多态性与超敏C反应蛋白水平的相关性探讨 [J], 邹艳惠; 刘颖; 李默郁; 陈立涛; 张雪莲4.儿童脓毒症患儿血清可溶性髓样细胞触发受体-1、可溶性CD14亚型、前降钙素和超敏C反应蛋白水平的变化 [J], 蓝俊伟; 潜丽俊5.CD14C(-260)T基因多态性、循环中可溶性CD14水平与动脉粥样硬化 [J], Amar J.;Ruidavets J.-B.;Bal Dit Sollier C.;J. Ferri`eres;杜媛因版权原因，仅展示原文概要，查看原文内容请购买。
2020年4月第10卷第8期·论 著·广东客家地区冠心病患者CYP2C19基因多态性分析林佑妮 杨 敏 蓝新平广东省梅州市人民医院心血管内四科，广东梅州 514031[摘要] 目的 探讨广东客家地区冠心病患者氯吡格雷代谢相关基因CYP2C19基因多态性的分布。
方法 选取2017年7月～2019年3月在我院接受氯吡格雷抗血小板治疗的冠心病患者共111例。
年龄34～86岁，其中男83例，女28例，采用PCR-RFLP技术检测111例来自广东客家地区的冠心病患者CYP2C19的基因型，并分别统计不同性别与基因多态性发生频率的关系。
结果 *1/*1基因型（636GG，681GG）41例（36.937%），*1/*2基因型（636GG，681GA）49例（44.144%），*1/*3基因型（636GA，681GG）7例（6.30%），*2/*2基因型（636GG，681AA）10例（9.009%），*2/*3基因型（636GA，681GA）4例（3.604%）。
根据基因型判断，快代谢型41例（36.937%），中间代谢型56例（50.450%），慢代谢型14 例（12.613%）；男性和女性的CYP2C19基因型频率差异无统计学意义(χ2=0.443，P=0.972)；不同性别之间各代谢型频率差异亦无统计学意义（χ2=0.381，P=0.824)。
结论 广东客家地区的冠心病患者中，CYP2C19基因存在多态性，性别与基因代谢型无相关性。
[关键词] 广东地区；冠心病；CYP2C19；基因多态性[中图分类号] R541.4；R440 [文献标识码] A [文章编号] 2095-0616（2020）08-12-04Analysis of CYP2C19 gene polymorphism in patients with coronary heart disease in the Hakka region of GuangdongLIN Youni YANG Min LAN XinpingFourth Department of Internal Medicine,Meizhou People’s Hospital of Guangdong,Meizhou 514031,China[Abstract] Objective To investigate the distribution of CYP2C19 gene polymorphism related to clopidogrel metabolism in patients with coronary heart disease in the Hakka region of Guangdong. Methods A total of 111 patients with coronary heart disease who received clopidogrel antiplatelet therapy at our hospital from July 2017 to March 2019 were selected.The patients ranged in age from 34 to 86 years,including 83 male patients and 28 femalepatients.The CYP2C19 genotypes of 111 patients with coronary heart disease from the Hakka region of Guangdong region were detected by PCR-RFLP technology,and the relationship between different genders and the occurrence frequency of gene polymorphism was calculated respectively.Results There were 41 patients (36.937%) with *1/*1 genotype (636GG,681GG),49 patients (44.144%) with *1/*2 genotype (636GG,681GA),7 patients (6.306%) with*1/*3 genotype (636GA,681GG),10 patients (9.009%) with *2/*2 genotype (636GG,681AA),and 4 patients(3.604%) with *2/*3 genotype (636GA,681GA).According to the genotype,there were 41 patients (36.937%)with fast metabolism,56 patients (50.450%) with intermediate metabolism,and 14 patients (12.613%) with slow metabolism;There was no statistically significant difference in CYP2C19 genotype frequency between males andfemales (χ2=0.443,P=0.972);There was no statistically significant difference in metabolic frequency between different genders (χ2=0.381,P=0.824). Conclusion Among patients with coronary heart disease in the Hakka region of Guangdong,there is polymorphism in CYP2C19 gene,and there is no correlation between gender and gene metabolism.[Key words] Guangdong region;Coronary heart disease;CYP2C19;Gene polymorphism冠心病是由于动脉粥样硬化病变，使得冠状动脉血管腔狭窄或阻塞，造成心肌低氧、缺血甚至引起坏死而出现的心脏病，其对人类生活和健康会造成沉重打击[1-2]。
CD14启动子-159位点基因多态性与中国朝鲜族2型糖尿病足患者足背动脉硬化相关性研究作者：Amit Sinha 金香子于婕郑寿焕金光明来源：《中国现代医生》2021年第33期[摘要] 目的研究CD14基因-159位點基因多态性与中国朝鲜族2型糖尿病足患者（DF）足背动脉硬化（FDA）的关联性。
方法选取2018年10月至2020年5月在延边大学附属医院内分泌科及手足外科住院的朝鲜族DF患者286例，彩色多普勒超声观察患者FDA情况，将存在FDA的患者分为无溃疡组（NFDAU组）和有溃疡组（FDAU组），记录全部2型糖尿病（Type 2 diabetic mellitus，T2DM）患者血液生化指标。
同时，应用聚合酶链反应-限制性片段长度多态性技术对所有DF患者的CD14基因-159位点进行基因型分析。
结果无溃疡组和有溃疡组CD14基因-159位点上，各基因型及等位基因频率比较，差异无统计学意义（χ2=1.801，P>0.05;χ2=1.864，P>0.05）;CC基因与CT及TT基因基因频率比较，差异有统计学意义（χ2=0.009，P[关键词] CD14基因-159位点;基因多态性;2型糖尿病足;足背动脉硬化;溃疡;彩色多普勒超声[中图分类号] R575.2 [文献标识码] A [文章编号] 1673-9701（2021）33-0006-05[Abstract] Objective To study the association between gene polymorphism of -159 locus in CD14 gene promoter and foot dorsal arteriosclerosis （FDA） in Chinese Korean type 2 diabetic foot patients （DF）. Methods A total of 286 Korean DF patients hospitalized in the Department of Endocrinology and Department of Hand and Foot Surgery in Yanbian University Hospital from October 2018 to May 2020 were selected. The FDA status of the patients was observed using color Doppler ultrasound. The patients with FDA were classified as the non-ulcer group（NFDAU） and the ulcer group （FDAU）. All biochemical blood indicators of type 2 diabetic mellitus （T2DM）patients were recorded. At the same time， the polymerase chain reaction-restriction fragment length polymorphism technique was used to perform genotype analysis on the-159 locus of CD14 gene in all DF patients. Results There was no statistically significant difference in the genotypes and allele frequencies at-159 locus of CD14 gene between the non-ulcer group（NFDAU） and the ulcer group （FDAU）（χ2=1.801，P>0.05; χ2=1.864， P>0.05）. The gene frequency difference between CC， CT and TT genes was statistically significant （χ2=0.009， P<0.05）.There were significant differences in disease course， smoking and drinking， hyperglycemia，and hyperuric acid indicators between NFDAU and FDAU（P<0.05）.Logistic regression analysis showed that the course of disease， smoking and drinking， and C allele were all associated with FDAU（P<0.05）. Conclusion The polymorphism of 159 locus of CD14 gene is associated with FDA in Chinese Koreans with DF. The CC homozygous gene is a genetic risk factor for DF patients with FDAU. The course of disease， smoking， drinking and C allele are risk factors for FDAU.[Key words] 159 Locus in CD14 gene; Gene polymorphism; Type 2 diabetic foot; Foot dorsal arteriosclerosis; Ulcer; Color Doppler ultrasound糖尿病足（Diabetic feet，DF）是糖尿病所有并发症中最为严重、凶险的类型，可引起患者截肢、残疾，重者可导致下肢坏疽、感染、甚至病死。
