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1.
目的探讨在中国北方汉族人群中花生四烯酸5-脂氧合酶激活蛋白(ALOX5AP)基因单核苷酸多态性T(8733)C与心肌梗死的关系。方法采用PCR-重测序法对随机选取的无亲缘关系的48例中国北方汉族个体进行ALOX5AP基因单核苷酸多态性筛查,对经冠状动脉造影证实的125例心肌梗死患者和158例正常对照者,采用聚合酶链反应?限制性片段长度多态性(PCR-RFLP)方法检测ALOX5AP基因T(8733)C多态性基因型和等位基因分布情况。结果通过筛查发现7个多态。心肌梗死患者ALOX5AP基因T(8733)C3种基因型(TT型、TC型和CC型)及C等位基因分布频率分别为35.2%、48.8%、16.0%和40.4%,正常对照者分别为32.9%、50.0%、17.1%和42.1%,其差异均无统计学意义(P>0.05);按性别分层进行亚组分析,心肌梗死患者与正常对照者ALOX5AP T(8733)C多态的基因型和等位基因频率差异亦均无统计学意义。结论ALOX5AP基因T(8733)C多态性与中国北方汉族人群心肌梗死的发生可能无关。  相似文献   

2.
目的研究心肌梗死(AMI)患者ALOX5AP基因SG13S114位点单核苷酸基因多态性(SNP)与急性时相反应蛋白(ARPs)的关系.方法分别采用限制性长度多态性聚合酶链反应(RLFP)方法,免疫比浊法研究ALOX5APSG13Sll4A/T的SNP及ARPs包括纤维蛋白原(fbg),高敏C反应蛋白(hs-CRP)的关系.结果心肌梗死组与冠心病组患者外周血基因组ALOX5AP基因SG13S114位点SNP分布T/T,T/A,A/A具有显著性差异(P<0.05;ALOX5AP基因SG13S114A/A型的AMI患者中FBg和hs-CRP显著高于对照组.结论 ALOX5AP基因SG13S114A/A可能是中国人群AMI发病的遗传性危险因素,也是影响AMI患者预后的重要炎症性因素.  相似文献   

3.
目的:探讨花生四烯5-脂氧合酶基因(arachidonate 5-lipoxygenase gene,ALOX5) rs2029253,rs2228064和rs2228065位点以及5-脂氧合酶激活蛋白基因(5-lipoxygenase activating protein gene,ALOX5AP)rs10507391和rs4769874位点的单核苷酸多态性(single nucleotide polymorphisms,SNP)与髓系白血病发病风险的相关性。方法:经医院伦理委员会批准、患者知情同意,选取150例髓系白血病患者为髓系白血病(ML)组,134例健康人群为对照组。提取基因组DNA,采用聚合酶链反应及限制性片段长度多态技术(PCR-RFLP)联合PCR产物直接测序法检测ALOX5、ALOX5AP基因5个位点的基因型。结果:ALOX5基因rs2029253位点在ML组和对照组中的A等位基因频率分别为43.0%和34.3%,而等位基因G的频率分别为57.0%、65.7%;基因型AA、AG和GG在ML组中的分布频率分别为32.2%,21.5%和46.3%,而在对照组中的分布频率分别为15.7%,37.3%和47.0%。基因型AA和等位基因A可能增加髓系白血病的发病风险(OR=2.26,95%CI:1.43-4.56,P0.05;OR=1.44,95%CI:1.02-2.03,P0.05);基因型AG与等位基因G可能降低对髓系白血病的易感性(OR=0.46,95%CI:0.27-0.78,P0.01;OR=0.69,95%CI:0.50-0.98,P0.05)。而ALOX5基因rs2228064、rs2228065位点多态性在ML组与对照组间的分布差异无统计学意义(P0.05)。ALOX5AP基因rs10507391位点等位基因A在髓系白血病组和对照组中频率分布分别为30.7%和36.2%;基因型AA、AT和TT在ML组中分布频率分别为1.3%,58.7%和40.0%,在对照组中的分布频率分别为9.7%,53.0%和37.3%;基因型AA可能降低髓系白血病的发病风险(OR=0.13,95%CI:0.03-0.57,P0.05);而ALOX5AP rs4769874位点基因型与等位基因分布频率在ML组与对照组间的分布差异无统计学意义(P0.05)。结论:ALOX5 rs2029253位点基因型AA、AG和等位基因A、G以及ALOX5AP rs4769874位点AA基因型与髓系白血病发病的遗传易感性相关。  相似文献   

4.
目的 探讨肝X受体基因-115A(rs12221497)和-6A(rs11039155)多态性位点与冠心病遗传易感性的关系.方法 采用单荧光标记探针技术检测243例冠心病患者、256例正常对照组肝X受体基因-115A和-6A基因型.结果 (1)AA基因型携带者与GA基因型携带者患冠心病的风险为GG基因型携带者的1.732倍( P〈0.05), -115A等位基因携带者患冠心病的风险是-115G等位基因携带者的1.81倍( P〈0.01);(2)Logistic回归分析提示,-115A位点等位基因A是冠心病的独立危险因素;(3)汉族人群不存在LXR-6A(rs11039155)这一SNPs位点.结论 肝X受体基因-115A(rs12221497)多态性与汉族人群冠心病遗传易感性独立相关.  相似文献   

5.
目的:探讨编码5-脂氧合酶激活蛋白FLAP的基因ALOX5APT(-1340)G多态性与中国北方汉族人群冠心病发病的相关关系.方法:选自2006-01/2007-09在解放军沈阳军区总医院行选择性冠状动脉造影者共680例.根据造影结果分为冠心病组336例均为选择性冠状动脉造影阳性,对照组344例为造影阴性或动脉管腔狭窄<50%且临床上无相关心肌缺血证据者.在随机选择的无亲缘关系的48名中国北方汉族个体中,采用聚合酶链反应-重测序法对ALOX5AP基因进行单核苷酸多态的筛查,共发现7个多态.冠心病组和对照组受试者采用聚合酶链反应-限制性片段长度多态性方法检测ALOX5AP基因T(-1340)G多态性位点在两组间的基因型和等位基因分布.结果:ALOX5AP基因T(-1340)G3种基因型(TT型,TG型和GG型)在冠心病组分布频率分别为26.79%,51.79%和21.43%,在对照组分别为33.72%,47.38%和18.90%,两组间的基因型分布皆符合Hardy-Weinberg平衡定律,3种基因型在两组间的分布差异无显著性意义(x~2=3.90,P>0.05).G等位基因在两组间的分布频率为47.32%和42.59%,差异无显著性意义(x~2=3.08,P>0.05).按性别分层进行亚组分析,发现ALOX5AP T(-1340)G多态的基因型和等位基因频率在冠心病组和对照组间的比较差异无显著性意义.结论:5-脂氧合酶激活蛋白基因ALOX5AP T(-1340)G多态性与中国北方汉族人群冠心病发病可能无相关关系.  相似文献   

6.
目的:探讨MMP-9基因-1562和R279Q位点多态性与儿童呼吸道合胞病毒(respiratory syncytial virus,RSV)毛细支气管炎易感性及严重程度之间的关系。方法对RSV感染致毛细支气管炎患儿142例(实验组)和健康儿童80例(对照组),采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析方法,检测MMP-9基因-1562和R279Q位点多态性基因型,比较不同位点不同基因型与毛细支气管炎易感性及严重程度之间的关系。结果 MMP-9基因-1562位点存在3个基因型,即C/C、C/T、T/T,分布频率分别为72.54%、26.01%、1.41%;MMP-9基因R279Q位点存在3个基因型,即C/C、C/G、G/G,分布频率分别为58.45%、33.80%、7.75%。MMP-9基因-1562位点不同基因型之间,毛细支气管炎严重程度差异有统计学意义(P〈0.05)。MMP-9-1562位点的C/T基因型携带者比C/C基因型携带者更容易发生毛细支气管炎,风险上升2.25倍(95%C. I.:1.08~4.72);MMP-9 R279Q位点的C/C基因型携带者更容易发生毛细支气管炎,风险上升1.90倍(95%C.I.:1.03~3.58)。结论 MMP-9基因-1562和R279Q位点多态性基因型与RSV毛细支气管炎易感性相关,而-1562位点多态性与其严重程度相关。  相似文献   

7.
目的探讨雌激素受体-α(ERα)基因多态性与江西地区女孩性早熟的相关性。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术,检测90例江西地区性早熟女孩和70例江西地区健康体检女孩ERα基因内含子1 Pvu Ⅱ T/C和XbaI A/G酶切位点基因多态性,并观察基因型对血清E2的影响。结果病例组ERα基因XbaⅠ基因型和等位基因频率分布与对照组相比差异有显著性(P〈0.05),其中等位基因X使女孩性早熟发病风险提高了2.26倍(95%CI:1.35-3.78);纯合子基因型(XX)、杂合子基因型(Xx)与野生型基因型(xx)相比,患性早熟的危险度分别为1.32倍(95%CI:0.46-3.81)和2.51倍(95%CI:1.27-4.97)。E2增高组ERα基因XbaⅠ基因型分布与E2正常组相比差异有显著性(P〈0.05);Pvu Ⅱ基因型和等位基因频率分布在病例组与对照组、E2增高组与E2正常组相比差异均无显著性。结论 ERα基因XbaⅠ位点多态性与女孩性早熟有关,突变基因增加了女孩性早熟的发病风险,Xx基因型最易患病。  相似文献   

8.
目的 探讨5,10- 亚甲基四氢叶酸还原酶(MTHFR)基因C677T 位点和A1298C 位点多态性与脊髓亚急性联合变性(SCD)的关系。方法 选择2017 年1 月~ 2020 年7 月于宝鸡市中心医院神经内科诊治的85 例SCD 患者作为病例组,另外募集100 例健康体检者作为对照组。采用荧光定量PCR 法检测MTHFR 基因C677T和A1298C 位点多态性,比较各组两位点基因型和等位基因频率,分析两位点多态性与SCD 发病的相关性。结果 病例组C677T 位点TT 基因型和T 等位基因频率均高于对照组(χ2=10.527,11.144,均P < 0.05),A1298C 位点CC 基因型和C 等位基因频率均高于对照组(χ2=6.575,6.076,均P < 0.05),差异均有统计学意义。C677T位点和A1298C 位点基因多态性均与同型半胱氨酸水平增高密切相关(χ2=19.625,10.786,均P < 0.05);与血清VitB12 和叶酸水平均无明确相关性(χ2=1.827~5.549,均P > 0.05)。多因素分析示携带C677T 位点TT 基因型是SCD 发病的独立危险因素(OR=2.768,95% CI:1.487~5.516,P=0.005),A1298C 位点基因多态性与SCD发病无明确相关性(OR=2.190,95% CI:0.958~5.004,P=0.067)。结论 MTHFR 基因C677T 位点突变与SCD发病密切相关。  相似文献   

9.
目的探讨CYP17A1基因rs11191548位点多态性与原发性高血压关系。方法选取原发性高血压患者143例和健康体检者199例。应用Taq Man探针分析CYP17A1基因rs11191548位点多态性的基因型,并探讨其相关性,采用逐步Logistic回归分析,分析获得性因素对高血压的影响。结果经χ~2检验,2组间基因型分布差异有统计学意义(P0.05),2组间等位基因频率分布差异有统计学意义(P0.05)。TT和CT基因型较CC基因型对于患病具有较高风险,CC基因型的个体患高血压的风险分别是携带TT基因型的0.370倍,携带T等位基因的个体患高血压的风险是携带C等位基因的1.776倍。获得性因素中,空腹血糖、甘油三酯及年龄较高的人群具有更高的患病风险。结论 CYP17A1基因rs11191548多态性与原发性高血压发病可能相关,其中TT基因型及T等位基因的个体患高血压的风险升高,获得性因素对高血压的发病有显著影响。  相似文献   

10.
目的 探讨ST6GALNAC2基因rs3840858、rs2304921多态性与新疆维吾尔族IgA肾病(IgA nephropathy,IgAN)遗传易感性的关系。方法 180例IgAN患者(IgAN组)与180例体检健康者(对照组),采用直接测序法检测ST6GALNAC2基因单核苷酸多态性位点rs3840858、rs2304921基因型,分析ST6GALNAC2多态性与IgAN的关系。结果 IgAN组ST6GALNAC2基因rs3840858位点DD、DI基因型频率(82.2%、17.8%),D、I等位基因频率(91.9%、8.9%)与对照组(94.4%、5.6%、97.2%、2.8%)比较差异有统计学意义(P〈0.01);单因素logistic回归分析显示,rs3840858多态性对IgAN患病风险可能有影响,DI基因型者的患病风险为DD基因型者的3.676倍(OR=3.676,95%CI:1.284~10.519,P=0.015),携带I等位基因者的患病风险是携带D等位基因者的3.415倍(OR=3.415,95%CI:1.223~9.531,P=0.019);2组ST6GALNAC2基因rs2304921基因型及等位基因频率比较差异均无统计学意义(P〉0.05)。结论 ST6GALNAC2基因rs3840858多态性可能与IgAN患病风险有关,rs2304921多态性可能与IgAN患病风险无关。  相似文献   

11.
Genetic variation in the genes ALOX5AP (arachidonate 5-lipoxygenase-activating protein) and LTA4H (leukotriene A4 hydrolase) has previously been shown to contribute to the risk of MI (myocardial infarction) and stroke in Icelandic and Scottish populations. Both genes encode proteins playing a role in the synthesis of the pro-inflammatory leukotriene B mediators, possibly providing a link between MI and inflammation. The aim of the present study was to investigate whether these associations could be confirmed in a large study of German MI patients. Two previously described four SNP (single nucleotide polymorphism) haplotypes of the ALOX5AP gene (termed haplotype A and B) and one SNP (rs2660899) of the LTA4H gene conferring the greatest risk of MI in previous studies were genotyped in 1211 unrelated MI cases from the German MI Family Study and in 1015 healthy married-in spouses serving as controls. Haplotype B in the ALOX5AP gene was associated with an increased risk of MI in the German population, confirming previously reported associations of this haplotype with CAD (coronary artery disease) in populations from Scotland and Italy. No association with the risk of MI was detected for haplotype A of the ALOX5AP gene or for SNP rs2660899 representing the LTA4H gene. In conclusion, haplotype B of the ALOX5AP gene is associated with an increased risk of MI in a large German study. The present study is the third independent report from a European population describing an increased risk of CAD for carriers of haplotype B of the ALOX5AP gene, which substantiates further a role of this gene in the pathogenesis of CAD in Europeans.  相似文献   

12.
Leukotrienes are implicated in the pathogenesis of coronary artery disease. Recently two haplotypes (HapA and HapB) in the gene encoding ALOX5AP (arachidonate 5-lipoxygenase-activating protein), the main regulator of 5-lipoxygenase, have been associated with a doubling of the risk of myocardial infarction. Studies have also shown that treatment with a leukotriene inhibitor reduces biomarkers of coronary risk in patients carrying HapA, raising the possibility of developing genotype-specific therapy. In the present study, we examined whether carriage of HapA or HapB is associated with increased LTB(4) (leukotriene B(4)) production in healthy subjects. Age- and gender-matched healthy HapA carriers (n=21), HapB carriers (n=20) and non-A/non-B carriers (n=18), with no reported history of cardiovascular disease, were recruited following DNA screening of 1268 subjects from a population-based study. Blood neutrophils were isolated, and LTB(4) production was measured in response to stimulation with 1 mumol/l of the calcium ionophore A23187. There was no difference in the mean level for LTB(4) production in the three groups (non-A/non-B, 24.9+/-8.3 ng/10(6) cells; HapA, 22.2+/-11.9 ng/10(6) cells; HapB, 19.8+/-4.8 ng/10(6); P=0.14). The findings indicate that if either the HapA or the HapB haplotype of ALOX5AP indeed increases cardiovascular risk, then the mechanism is not simply due to a systematically observable effect of the haplotype on LTB(4) production in response to stimulation. The results suggest that knowledge of a patient's haplotype may not provide useful information on the probable clinical response to ALOX5AP inhibitors.  相似文献   

13.
目的探讨小肠型脂肪酸结合蛋白(FABP2)外显子2第54位密码子的基因多态性与不同民族冠心病患者血脂水平的关系。方法收集人选人群的空腹外周血标本,全血用于提取DNA,血清用于检测血脂。采用聚合酶链反应(PCR),DNA限制性内切酶酶切(RFLP)等技术,分别对病例组(汉族冠心病组60例,蒙古族冠心病组60例)和对照组(汉族对照组51例,蒙古族对照组51例)54A/TFABP2基因型进行分析。结果(1)汉族冠心病组人群54T等位基因频率为0.542,54A等位基因频率为0.458;蒙古族冠心病人群54T等位基因频率为0.708,54A等位基因频率为0.292;汉族对照组人群54T等位基因频率为0.284,54A等位基因频率为0.716;蒙古族对照组人群54T等位基因频率为0.353,54A等位基因频率为0.647;与对照组相比:汉族及蒙古族冠心病组人群突变型54T等位基因频率明显增高,且差异均有统计学意义(统计值分别为:X2=14.967,P〈0.05;x2=28.083,P〈0.05);蒙古族冠心病人群突变型54T等位基因频率较汉族冠心病人群增高,且差异有统计学意义(X2=7.111,P〈0.05)。(2)与FABP2Thr54(-)者相比,冠心病组FABP2Thr54(+)者的空腹血浆TG[汉族冠心病:Thr54(-)人群为(1.89±0.57)mmol/L,Thr54(+)人群为(3.92±1.63)mmoL/L,P=0.001;蒙古族冠心病组:Thr54(-)人群为(2.23±0.13)mmol/L,Thr54(+)人群为(4.03±1.14)mmol/L,P=0.035]、低密度脂蛋白胆固醇[汉族冠心病:Thr54(-)人群为(3.09±0.92)mmol/L,Thr54(+)人群为(4.05±1.14)mmol/L,P=0.025;蒙古族冠心病组:Thr54(-)人群为(4.26±0.08)mmol/L,Thr54(+)人群为(5.104-0.56)mmol/L,P=0.045]水平升高。结论(1)内蒙古自治区呼和浩特市市区蒙古族及汉族人群中存在FABP2外显子2第54位密码子的基因多态性。(2)FABP2基因多态性是冠心病患者脂质代谢异常的影响因素,可能与冠心病发病风险有关,携带FABP2Thr基因的蒙古族个体冠心病发病风险增高。  相似文献   

14.
Lipoxygenases have been implicated in the pathogenesis of coronary artery disease (CAD) for its potent proinflammatory role. The Sp1 addition/deletion polymorphism in promoter region of the 5‐lipoxygenase gene (ALOX5) has been associated with increased risk of carotid atherosclerosis and myocardial infarction. To determine the role of this polymorphism in our population we performed a case–control‐genetic association study on 117 healthy controls and 119 angiographically verified CAD patients. Biochemical analysis was performed using standard automated assays. High‐density lipoprotein cholesterol (HDL‐C) and LDL‐C subfraction levels were estimated using precipitation methods. Genotyping of polymorphism in the ALOX5 (Sp1 variants) was done using PCR‐based heteroduplex analysis and automated sequencing. The Sp1 promoter repeat variants were found to be associated with CAD (p < 0.0001, OR = 4.47, 95% confidence interval = 2.58–7.74). Furthermore, the 5/5 genotype of the ALOX5 polymorphism in the healthy subjects was found to be associated with elevated HDL‐C (p= 0.004), HDL3‐C (p= 0.04), apo A1 (p= 0.011) and sdLDL (p= 0.001). We conclude that this polymorphism influences LDL and HDL subfraction levels and is a risk factor for CAD in our population. Clin Trans Sci 2012; Volume 5: 408–411  相似文献   

15.
16.
汉族人肝脂酶基因启动子-514C/T多态性与冠心病的关系   总被引:1,自引:1,他引:0  
目的:探讨汉族人肝脂酶(HL)基因启动子-514C/T多态性与冠心病的关系。方法:采用聚合酶链反应限制性片段长度多态性(PCR-RFLP)技术检测127例冠心病患者和100名对照组汉族人HL基因启动子-514C/T多态性基因型,探讨其对血脂、脂蛋白和载脂蛋白水平的影响。结果:冠心病组与对照组HL基因启动子-514C/T多态性基因型和等位基因频率分布差异无显著意义,与性别、家族史、吸烟史及体重指数无明显相关性。Spearman相关分析显示,不论健康对照组,还是冠心病组,T等位基因与各项血脂水平之间均无明显相关性。Logistic回归分析显示,T等位基因不是冠心病发生的独立危险因素。结论:此结果表明,不论健康对照组还是冠心病组,HL基因启动子-514C/T基因多态性与各种血脂水平之间无明显相关性,T等位基因不是冠心病发生的独立危险因素。  相似文献   

17.
目的:了解冠心病高危人群疾病知识认知水平,并探讨其影响因素。方法:采用自制的冠心病一级预防知识调查表对553例社区冠心病高危人群进行调查,并对疾病知识认知水平的影响因素进行分析。结果:53.2%的冠心病高危人群通过非专业人员获取疾病知识;冠心病知识总得分指标为40.3%;问卷中冠心病首发临床症状、主要危害和主要危险因素3个维度的平均得分指标分别为37.5%、34.5%、28.9%;对疾病知识认知水平的主要影响因素是职业状况、家族史、经济水平、血脂异常及文化程度。结论:冠心病高危人群对疾病知识认知水平低,对冠心病的危害认知不够,对冠心病危险因素感知不足。  相似文献   

18.
[目的]探讨血浆髓过氧化物酶(MPO)及其基因多态性测定在早发冠心病(CHD)高危人群的临床应用价值。[方法]入选患者急性冠脉综合征(ACS)组69例,稳定型心绞痛(SAP)组72例,非CHD对照76例,采用酶联免疫吸附法测定血浆MPO水平,以连接酶检测反应-聚合酶链反应(LDR—PCR)测序分型技术分析三组患者MPO基因启动子-463位点核苷酸多态基因型分布,及其与早发CHD的关系。[结果]ACS组血浆MPO水平明显高于SAP组和对照组(P〈0.05);MPO-463A等位基因及AA基因型携带者患早发CHD的风险降低(P〈..05),而G等位基因及GG基因型携带者更易发生CHD(P〈0.05)。[结论]血浆MPO联合基因态性测定在早发冠心病高危人群的早期筛选有重要意义。  相似文献   

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