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p73 G4C14 to A4T14 polymorphism is associated with colorectal cancer risk and survival 被引量:1
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作者 Kyung-Eun Lee Young-Seoub Hong +4 位作者 Byoung-Gwon Kim Na-Young Kim Kyoung-Mu Lee Jong-Young Kwak Mee-Sook Roh 《World Journal of Gastroenterology》 SCIE CAS CSCD 2010年第35期4448-4454,共7页
AIM:To analyze the association between the p73 G4C14-to-A4T14 polymorphism(a.k.a.,the GC/AT variation) and colorectal cancer risk and survival in the Korean population,and to evaluate the relationships between p73 pol... AIM:To analyze the association between the p73 G4C14-to-A4T14 polymorphism(a.k.a.,the GC/AT variation) and colorectal cancer risk and survival in the Korean population,and to evaluate the relationships between p73 polymorphism and the p73 protein expression or clinicopathological characteristics of colorectal cancer.METHODS:Three hundred and eighty-three histologically confirmed cases and 469 healthy controls,recruited at one teaching hospital in Pusan,Korea from 2001 and 2007,were genotyped for p73 G4C14-to-A4T14 by PCR with confronting two-pair primers(PCR-CTPP) and the expression profile of p73 in cancer tissues(n=383) was analyzed by immunohistochemistry.RESULTS:Odds ratios(ORs) and 95% confidence intervals(CIs) were calculated by unconditional logistic regression model adjusted for age and gender.Compared with the GC/GC genotypes,the GC/AT and AT/AT genotypes were significantly associated with colorectal cancer risk(GC/AT vs GC/GC:OR = 1.46,95% CI:1.10-1.94;AT/AT vs GC/GC:1.72,0.98-3.03;Ptrend=0.01).When stratified by age and gender,the association was restricted to those less than 60 years of age(GC/AT or AT/AT vs GC/GC:2.22,1.39-3.55) and male(GC/AT or AT/AT vs GC/GC:1.91,1.31-2.77).The expression of p73 was associated with invasion depth(P = 0.003) and advanced Duke's stage(P = 0.06) of colorectal cancer.The patients with the GC/GC genotype were associated with worse survival compared with those with the other genotypes(P = 0.02).However,no signif icant relationship was observed between the p73 G4C14-to-A4T14 polymorphism and p73 protein expression in cancer tissues.CONCLUSION:Our results suggest that the p73 GC/AT polymorphism is associated with an increased colorectal cancer risk and survival in the Korean population. 展开更多
关键词 p73 g4c14 to A4t14 polymorphism colorectal cancer
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Endothelial Nitric Oxyde Synthase Gene Polymorphisms in a Tunisian Deep Vein Thrombosis Group
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作者 Nedra Grira Nadia Ben Abdelhafidh +6 位作者 Manel Ayoub Rihab Sendesni Bochra Adib Najla Stambouli Salah Othmani Zied Aouni Chakib Mazigh 《Journal of Biosciences and Medicines》 2016年第9期33-41,共9页
Deep vein thrombosis (DVT) is a multi-factorial disease involving both genetic and acquired risk factors. The objective of this study was to determine the frequencies of endothelial nitric oxide synthase (eNOS) gene p... Deep vein thrombosis (DVT) is a multi-factorial disease involving both genetic and acquired risk factors. The objective of this study was to determine the frequencies of endothelial nitric oxide synthase (eNOS) gene polymorphisms G894T (rs1799983) and T-786C (rs2070744) to assess the role of these polymorphisms as a potential risk factor in the development of DVT. Methods: In this case-control study, we included 32 patients with deep vein thrombosis (DVT) and 31 healthy control subjects. Clinical characteristics were collected. Lipids plasma concentrations were determined by the colorimetric method. Genotyping for the polymorphisms was performed by restriction fragment length polymorphism (PCR-RFLP) method. Results: We had found that the eNos G894T genotype G/T was significantly increasing the risk of DTV (P = 0.042, OR = 3.9;95% CI = 1.09 to 13.92). But no association of the eNOS T-786C variant and DVT was found. For the eNOs T-786C polymorphism, the frequency of the T/T genotype was 87.5% in patients (with an allelic frequency of T Allele equal to 91%). No significant difference was noted between the two groups (P > 0.05). Conclusion: The eNOs G894T polymorphism seems to be in association with DVT and may be considered as a risk factor, but this is not the case for the T-786C polymorphism. 展开更多
关键词 Deep Vein Hrombosis ENOS NO g894t polymorphism t-786c polymorphism
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遵义汉族载脂蛋白A5(c.553G/T)基因多态性与高甘油三酯血症 被引量:1
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作者 余晓 戴华玉 +2 位作者 王业忠 耿争光 张志敏 《实用医学杂志》 CAS 北大核心 2016年第20期3386-3390,共5页
目的:探讨ApoA5基因c.553G/T多态性与遵义汉族HTG相关性。方法:用PCR-RFLP技术检测分析103例HTG患者和165例正常对照者ApoA5 c.553G/T多态性及地区分布差异。结果:两组中ApoA5c.553G/T基因型频率有显著差异(P〈0.05),c.553T基因在... 目的:探讨ApoA5基因c.553G/T多态性与遵义汉族HTG相关性。方法:用PCR-RFLP技术检测分析103例HTG患者和165例正常对照者ApoA5 c.553G/T多态性及地区分布差异。结果:两组中ApoA5c.553G/T基因型频率有显著差异(P〈0.05),c.553T基因在HTG组中频率明显高于正常组(P〈0.05),对HTG具有独立影响(OR=15.768,95%CI:5.916~42.025,P〈0.001);与我国汉族正常人群比较明显低于台湾、江苏和湖北(P〈0.05),与湖南和新疆相似(P〉0.05);在HTG人群中,与江苏相似(P〉0.05),明显高于新疆、低于台湾(P〈0.05)。结论:ApoA5 c.553G/T多态与遵义汉族HTG发病存在相关性及地区差异,c.553T基因可能是HTG的独立危险因素。 展开更多
关键词 高甘油三酯血症 载脂蛋白A5基因 c.553g/t多态 遵义汉族人群
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Tim-3启动子区-1541 C>T、-882 T>C、-574 G>T各复合基因型与尘螨变应性鼻炎的研究 被引量:2
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作者 黄映红 张建国 +3 位作者 赖荷 陈盛强 马钊恩 丘理子 《中国现代医学杂志》 CAS CSCD 北大核心 2009年第10期1494-1498,共5页
目的Tim-3启动子区-1541 C>T、-882 T>C、-574 G>T各复合基因型与尘螨变应性鼻炎的关系。方法运用PCR-RFLP、PCR-ARMS检测88例尘螨变应性鼻炎及102例正常人Tim-3启动子区-1541 C>T、-882 T>C、-574 G>T基因多态性。... 目的Tim-3启动子区-1541 C>T、-882 T>C、-574 G>T各复合基因型与尘螨变应性鼻炎的关系。方法运用PCR-RFLP、PCR-ARMS检测88例尘螨变应性鼻炎及102例正常人Tim-3启动子区-1541 C>T、-882 T>C、-574 G>T基因多态性。结果尘螨变应性鼻炎组Tim-3-1541CC/-882CC/-574G,-1541CC/-882CC/-574GT+TT,-1541CC/-882TC+TT/-574GG,-1541CT+TT/-882CC/-574GG及其他复合基因分别为:0.8409、0.1136、0.027、0.027和0,对照组分别为,0.7941、0.0784、0.0196、0.0868和0。结论广东汉族人群Tim-3启动子区-1541 C>T、-882 T>C、-574 G>T各复合基因型与尘螨变应性鼻炎无相关联。 展开更多
关键词 变应性鼻炎 tim-3启动予区 -1541 ct、-882 tc -574 gt各复合基因型 多态性
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G6PD基因c.592C>T和c.95A>G遗传多态性与其发病风险的相关性研究 被引量:1
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作者 仇雯丽 丁科 +6 位作者 董明右 凌永嫦 石凤 滕元姬 何丽桥 王俊利 李妹燕 《右江民族医学院学报》 2021年第2期174-177,181,共5页
目的探讨G6PD基因c.592C>T和c.95A>G多态性与葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症发病风险的相关性研究。方法运用SNPscan^(TM)多重SNP分型专利技术检测417例G6PD缺乏症病例组与295例健康对照组的c.592C>T和c.95A>G基因型,使... 目的探讨G6PD基因c.592C>T和c.95A>G多态性与葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症发病风险的相关性研究。方法运用SNPscan^(TM)多重SNP分型专利技术检测417例G6PD缺乏症病例组与295例健康对照组的c.592C>T和c.95A>G基因型,使用日立全自动生化分析仪7600通过速率法检测G6PD酶活性。运用统计学方法分析两组基因型、等位基因与G6PD缺乏症发病风险的关系,并通过在线SHEsis分析两位点单倍型。结果G6PD基因c.592C>T在病例组和对照组中基因型和等位基因分布差异无统计学意义(P>0.05),c.95A>G基因型和等位基因在两组中分布差异有统计学意义(P<0.05)。CA单倍型和CG单倍型在两组中差异具有统计学意义(P<0.05)。结论c.95A>G位点突变与G6PD缺乏症的发病风险有关。 展开更多
关键词 g6PD c.592c.t c.95A>g 多态性 发病风险
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Frequency of C825T G protein β3 subunit gene polymorphism and its association with obesity in the Kyrgyz population
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作者 MIRRAKHIMOV ERKIN LUNEGOVA OLGA +7 位作者 MIRRAKHIMOV AIBEK KERIMKULOVA ALINA STAROV NURDIN ZALESSKAYA YULIYA ABILOVA SAAMAI NABIEV MALIK ALIBAEVA NAZIRA ALDASHEV ALMAZ 《Family Medicine and Community Health》 2013年第1期23-29,共7页
Objective:To examine the frequency of C825T G protein β3 subunit gene polymorphism and its association with obesity of ethnic Kyrgyz.Methods:The study enrolled 210 people,89 patients(35 females,54 males)with obesity(... Objective:To examine the frequency of C825T G protein β3 subunit gene polymorphism and its association with obesity of ethnic Kyrgyz.Methods:The study enrolled 210 people,89 patients(35 females,54 males)with obesity(BMI≥30 kg/m2)and 121 practically healthy patients(38 females,83 males)with normal body weight and no signs of type 2 diabetes(group of control),who were not observed before by a cardiologist.The blood pressure,anthropometry,glucose and lipid profile were examined among all subjects.Genomic DNA was extracted from peripheral blood cells.G proteinβ3 subunit C825T polymorphism was determined by polymerase chain reaction(PCR).Results:TT and CT genotypes carriers were grouped together in one group because the TT genotype was rare.CT+TT genotype frequency in the group with obesity made 0.72 and was significantly higher than that in the control group-0.52(χ2-8.44;P=0.004;odds ratio-2.55;95%CI 1.31-4.23).The statistical analysis revealed that hypertension(45%vs.31.3%,P=0.049)and obesity(51.2%vs.30%,P<0.01)occurred significantly more often in CT+TT genotype carriers than in the CC homozygotes.The results of the multivariate logistic regression analysis showed that the presence of 825T allele(exp β-2.89;95%CI 1.25-6.7;P=0.013),along with the occasional consumption of vegetables(exp β-3.47;95%CI 1.52-7.94;P=0.003)was the significant risk factor for obesity,regardless of gender,age and level of physical activity.In the construction of the similar regression model for hypertension,the statistically significant role of 825T allele was lost after adjustment for obesity as an independent variable.Conclusion:G protein β3 subunit gene C825T allele in the Kyrgyz ethnic group has an association with obesity. 展开更多
关键词 g proteinβ3 subunit c825t polymorphism OBESItY HYPERtENSION
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雌激素受体α多态性与心血管疾病危险性的关系研究 被引量:6
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作者 唐忠志 李小平 +2 位作者 杨剑虹 彭森 陆卫华 《华南国防医学杂志》 CAS 2008年第2期35-37,共3页
目的研究雌激素受体(ER)ERαc.454-351A→G多态性和ERc.454-397T→C多态性与心血管疾病的关系。方法采用PCR-RFLP方法检测159例男性冠心病患者和159例正常男性对照者中,ERαc.454-351A→G和ERc.454-397T→C多态性的分布,并分析ERαc.454... 目的研究雌激素受体(ER)ERαc.454-351A→G多态性和ERc.454-397T→C多态性与心血管疾病的关系。方法采用PCR-RFLP方法检测159例男性冠心病患者和159例正常男性对照者中,ERαc.454-351A→G和ERc.454-397T→C多态性的分布,并分析ERαc.454-351A→G和ERc.454-397T→C多态性下,冠心病发病率的变化规律。结果ERαc.454-351A→G和ERc.454-397T→C多态性与血压、血糖、血脂等心血管疾病危险因素间没有显著联系。但ERc.454-397T→C多态性与缺血性心脏病和急性心肌梗死的发生有关,CC基因型人群患缺血性心脏病和急性心肌梗死的危险性(OR)显著高于其它基因型的人群。结论ERc.454-397的基因型中的突变纯合子(CC)发生缺血性心脏病和急性心肌梗死有明显的可能性大于其他基因型。ERαc.454-397T→C多态性可用于预测和分析不同个体患冠心病的危险性。 展开更多
关键词 雌激素 ERαc .454-351A→g多态性 ERc .454-397tc多态性 心血管疾病 危险性
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遵义汉族人群载脂蛋白A5基因多态性与高胆固醇血症的关系 被引量:4
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作者 肖代敏 耿争光 +2 位作者 杨昌伟 李春霞 张志敏 《中国动脉硬化杂志》 CAS 北大核心 2017年第5期485-489,共5页
目的探讨载脂蛋白A5(Apo A5)基因c.553G/T位点多态性与遵义汉族人群高胆固醇血症(HTC)的相关性。方法采用聚合酶链反应限制性片长多态性(PCR-RFLP)技术检测并分析101例HTC患者和118例正常对照者Apo A5基因c.553G/T位点多态性。结果两组... 目的探讨载脂蛋白A5(Apo A5)基因c.553G/T位点多态性与遵义汉族人群高胆固醇血症(HTC)的相关性。方法采用聚合酶链反应限制性片长多态性(PCR-RFLP)技术检测并分析101例HTC患者和118例正常对照者Apo A5基因c.553G/T位点多态性。结果两组中Apo A5基因c.553G/T位点基因型频率差异有统计学意义(P<0.05),Apo A5 c.553T基因在HTC患者组中的分布频率明显高于正常对照组(P<0.05),对HTC有独立影响(OR=4.685,95%CI:1.269~17.296,P=0.020);各血脂指标比较更进一步验证血脂指标比值比单相血脂检测更具临床意义。结论 Apo A5 c.553G/T位点多态性与遵义汉族人群HTC发病存在相关性;Apo A5 c.553T等位基因可能是HTC的独立危险因素。 展开更多
关键词 载脂蛋白A5基因 c.553g/t位点多态 高胆固醇血症 遵义汉族人群 血脂指标比值
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