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目的:探讨白细胞介素23受体(IL23R)基因多态与中国人群食管癌易感性的关系。方法:采用病例-对照研究设计,收集经病理组织学确诊的食管癌新发病例共1 045例,性别、年龄等人口学特征与病例频数匹配的健康对照1047例。选取IL23R基因启动子区域SNP rs6682925 T>C以及第二外显子区域SNP rs1884444 T>G为研究位点。应用TaqMan基因分型技术进行基因型检测并进行相关统计分析,比较不同基因型与食管癌发病风险的关系。结果:在调整年龄、性别、吸烟、饮酒因素后,携带IL23R rs1884444 TG/GG基因型的个体发生食管癌的风险较携带IL23R rs1884444TT基因型者增加了20%(校正OR=1.20,95%CI=1.01~1.43),携带rs6682925 TC/CC基因型者发生食管癌的风险较携带TT基因型者增加17%(校正OR=1.17,95%CI=0.98~1.40)。分层分析结果显示rs1884444风险等位基因G和rs6682925风险等位基因C的危险作用在年轻者(≤60岁)和不饮酒者中尤为明显。结论:IL23R rs1884444和rs6682925多态与中国汉族...  相似文献   
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目的 探讨微小RNA前体(pre-miRNA)区域基因多态与中国人群肝细胞肝癌(hepatocellular carcinoma,HCC)易感性的关系.方法 采用病例-对照研究设计,包括确诊的HCC患者963例、乙型肝炎病毒(hepatitis B virus,HBV)阳性对照829例和HBV阴性对照852名.选取pre-miRNA区域多态位点hsa-mir-146a rs2910164 C→G及hsa-mir-196-a2 rs11614913 T→C为研究位点,应用引物错配限制性分析(primer introduced restriction analysis-PCR,PIRA-PCR)方法进行多态性检测,应用logistic回归计算OR值及95%CI,比较不同基因型与HCC发病风险的关系.结果 rs2910164位点3种基因型CC、CG、GG在病例组分布频率分别为34.5%(319/925)、48.6%(450/925)、16.9%(156/925),在HBV阳性对照组中分别为36.4%(274/753)、45.0%(339/753)、18.6%(140/753),在HBV阴性对照组中分别为36.1%(303/840)、46.0%(386/840)、18.0%(151/840).rs11614913位点3种基因型TT、CT、CC在病例组分布频率分别为29.7%(277/934)、48.1%(449/934)、22.3%(208/934),在HBV阳性对照组中分别为30.3%(238/785)、51.0%(400/785)、18.7%(147/785),在HBV阴性对照组中分别为28.6%(239/837)、49.8%(417/837)、21.6%(181/837).在调整年龄、性别、吸烟、饮酒因素后,未能发现两位点多态与HCC发病危险之间存在明显关联[与HBV阳性对照相比:hsa-mir-146a rs2910164(GC+GG对CC):校正0R=1.10,95%CI:0.90~1.36;hsa-mir-196-a2 rs11614913(CC+CT对TT):校正OR=1.01,95%CI:0.81~1. 25;与HBV阴性对照相比:hsa-mir-146a rs2910164(GC+GG对CC):校正OR=1.06,95%CI:0.87~1.29;hsa-mir-196-a2 rs11614913(CC+CT对TT):校正OR=0.94,95%CI:0.76~1.16].分别以年龄、性别、吸烟、饮酒进行分层分析也未能发现两多态位点与HCC发病风险相关联.结论 hsa-mir-146a rs2910164 C→G及hsa-mir-196-a2 rs11614913 T→C多态性可能不是中国人群HCC的易感性标志物.
Abstract:
Objective To investigate the relationship between genetic polymorphism in microRNAs (miRNAs) precursor and genetic prediposition of hepatocellular carcinoma (HCC) in Chinese population. Methods A case-control study including 963 HCC cases and 829 HBsAg positive controls and 852 HBsAg negative controls was conducted. hsa-mir-146a rs2910164 C→G and hsa-mir-196-a2 rs11614913 T→C were selected,where the genotypes were determined by the primer introduced restriction analysis-PCR (PIRA-PCR) assay. Odd ratios (ORs) and 95% confidence intervals (CIs) were evaluated by logistic regression analysis to investigate the relationship between onset risk of HCC and different genotypes. Results The genotype frequencies of CC, CG and GG at rs2910164 gene locus were separately 34. 5 % ( 319/925 ) ,48.6% (450/925) and 16.9% ( 156/925 ) in cases; 36.4% ( 274/753 ) ,45.0% ( 339/753 ) and 18. 6%(140/753) in HBsAg positive controls; and 36. 1% (303/840) ,46.0% (386/840) and 18.0% (151/840) in HBsAg negative controls. The genotype frequencies of TT, CT and CC at rs11614913 were respectively 29.7% (277/934) ,48. 1% (449/934) and 22.3% (208/934) in cases; 30. 3% (238/785) ,51.0% (400/785) and 18. 7% (147/785) in HBsAg positive controls; and 28. 6% (239/837) ,49. 8% (417/837) and 21.6% ( 181/837 ) in HBsAg negative controls. No significant relationships were observed between these two single nucleotide polymorphisms (SNPs) and onset risk of HCC after adjusting the factors as age,gender,smoking and drinking status in comparison with HBsAg positive controls: hsa-mir-146a rs2910164 (CG +GG vs CC): adjusting OR = 1.10,95% CI: 0. 90 - 1.36; hsa-mir-196-a2 rs11614913 ( CC + CT vs TT):adjusting OR= 1.01,95% CI: 0. 81 -1.25; as well as in comparison with HBsAg negative controls: hsa-mir-146a rs2910164 ( CG + GG vs CC ): adjusting OR = 1. 06,95% CI: 0. 87 - 1.29; hsa-mir-196-a2 rs11614913 ( CC + CT vs TT ): adjusting OR = 0. 94,95% CI: 0. 76 - 1.16. As well, no significant relationships were observed between these two SNPs and onset risk of HCC in the subgroups stratified by age,gender,smoking and drinking status. Conclusion hsa-mir-146a rs2910164 C→G and hsa-mir-196-a2 rs11614913 T→C may not play an important role in the HCC predisposition among Chinese populations.  相似文献   
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