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Association of XPG rs2094258 polymorphism with gastric cancer prognosis 预览
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作者 Xiao-Qin Wang Paul D Terry +3 位作者 Yang Li Yue Zhang Wen-Jing Kou Ming-Xu Wang 《世界胃肠病学杂志:英文版》 SCIE CAS 2019年第34期5152-5161,共10页
BACKGROUND The xeroderma pigmentosum group G(XPG)gene at chromosome 13q33 consists of 15 exons,which may be related to the occurrence and development of gastric cancer(GC).AIM To examine the association of several com... BACKGROUND The xeroderma pigmentosum group G(XPG)gene at chromosome 13q33 consists of 15 exons,which may be related to the occurrence and development of gastric cancer(GC).AIM To examine the association of several common single nucleotide polymorphisms(SNPs)of the XPG gene with GC risk and survival.METHODS Five SNPs of XPG(rs2094258,rs751402,rs873601,rs2296147,and rs1047768)were genotyped by PCR restriction fragment length polymorphism in 956 histologically confirmed GC cases and 1012 controls in North China.GC patients were followed for survival status and,if deceased,cause of death.Logistic regression and Cox regression were used for analysing associations of XPG SNPs with risk of GC and prognosis,respectively.For rs2094258,heterozygous model(CT vs CC),homozygous model(TT vs CC),recessive model(TT vs CT+CC),and dominant model(TT+CT vs CC)were analyzed.RESULTS None of the examined loci were statistically associated with GC risk,although rs2296147 was marginally associated with GC risk(P=0.050).GC patients with the rs2094258 CT+CC genotype showed worse survival than those with the TT genotype(log-rank test,P=0.028),and patients with the CC genotype had a tendency of unfavourable prognosis compared with those with the TT+CT genotype(log-rank test,P=0.039).The increase in C alleles of rs2094258[hazard ratio(HR)=1.19,95%confidence interval(CI):1.02-1.45,P=0.037]were associated with the long-term survival of GC cases.Other risk factors for survival included tumor differentiation(HR=4.51,95%CI:1.99-8.23,P<0.001),lymphovascular invasion(HR=1.97,95%CI:1.44-3.01,P<0.001),and use of chemotherapy(HR=0.81,95%CI:0.63-0.98,P=0.041).CONCLUSION The XPG rs2094258 polymorphism may be associated with overall survival in GC patients. 展开更多
关键词 Xeroderma pigmentosum group G Single NUCLEOTIDE POLYMORPHISMS rs2094258 Gastric cancer PROGNOSIS
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Association of Genetic Polymorphisms with Age at Onset in Han Chinese Patients with Bipolar Disorder
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作者 Shao-Hua Hu Yu-Qing Han +16 位作者 Ting-Ting Mou Man-Li Huang Jian-Bo Lai Chee H Ng Jing Lu Qiao-Qiao Lu Qiu-Yan Lin Yu-Zhi Zhang Jian-Bo Hu Ning Wei Wei-Juan Xu Wei-Hua Zhou Jing-Kai Chen Chan-Chan Hu Xiao-Yi Zhou Shao-Jia Lu Yi Xu 《神经科学通报:英文版》 SCIE CAS CSCD 2019年第4期591-594,共4页
Dear Editor,Bipolar disorder (BD) is a chronic and disabling disorder characterized by manic, hypomanic, or depressive episodes, with an estimated lifetime prevalence ranging from 1% to 5%. Globally, it is a leading c... Dear Editor,Bipolar disorder (BD) is a chronic and disabling disorder characterized by manic, hypomanic, or depressive episodes, with an estimated lifetime prevalence ranging from 1% to 5%. Globally, it is a leading cause of disability and a socioeconomic burden. 展开更多
关键词 ASSOCIATION GENETIC POLYMORPHISMS BIPOLAR DISORDER
难治性慢性丙型肝炎中医证型与HLA-DP基因SNP的相关性研究 预览
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作者 韩竖霞 郑毅 +1 位作者 彭晓明 赵友云 《国际检验医学杂志》 CAS 2019年第1期4-7,共4页
目的探讨难治性慢性丙型肝炎(RCHC)中医证型与人类白细胞抗原(HLA)DP基因单核苷酸多态性(SNP)的相关性,寻找中医证型的分子标志物,为中医辨证提供科学依据。方法收集湖北省中医院收治的200例RCHC住院患者的一般临床资料、中医证型和肝... 目的探讨难治性慢性丙型肝炎(RCHC)中医证型与人类白细胞抗原(HLA)DP基因单核苷酸多态性(SNP)的相关性,寻找中医证型的分子标志物,为中医辨证提供科学依据。方法收集湖北省中医院收治的200例RCHC住院患者的一般临床资料、中医证型和肝功能指标[丙氨酸氨基转移酶(ALT)、天门冬氨酸氨基转移酶(AST)、碱性磷酸酶(ALP)、清蛋白(ALB)]、丙型肝炎病毒(HCV)RNA、HCV基因型、凝血酶原时间(PT)及血小板计数(PLT)检测结果;同时以100例该院其他科室收治的非RCHC患者为对照,采用双重荧光定量聚合酶链反应(FQ-PCR)技术对RCHC不同中医证型和对照组的HLA-DP基因rs9277535位点进行基因分型,统计分析各数据与中医证型的相关性。结果200例RCHC中医证型中,肝郁脾虚证最多(100例,50.0%),然后依次是非肝郁脾虚型包括湿热内阻证(48例,24%)、肝肾阴虚证(32例,16.0%)和淤血阻络证(20例,10.0%);肝郁脾虚型与非肝郁脾虚型之间,年龄、肝功能指标和HCV基因型及HCV-RNA水平差异无统计学意义(P>0.05),但PT差异有统计学意义(P<0.05);与对照组相比,RCHC患者的肝郁脾虚组和非肝郁脾虚组的HLA-DP基因rs9277535基因型GG和AA分布差异均无统计学意义(P>0.05)。结论HLA-DP基因rs9277535位点基因型GA杂合型和AA突变型在RCHC患者不同中医证型之间差异无统计学意义;但等位基因G和A的分布在肝郁脾虚组和非肝郁脾虚组有差异趋势,值得进一步研究。 展开更多
关键词 难治性慢性丙型肝炎 中医 证型 HLA-DP基因 单核苷酸多态性 丙型肝炎病毒
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GPA:A Microbial Genetic Polymorphisms Assignments Tool in Metagenomic Analysis by Bayesian Estimation
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作者 Jiarui Li Pengcheng Du +4 位作者 Adam Yongxin Ye Yuanyuan Zhang Chuan Song Hui Zeng Chen Chen 《基因组蛋白质组与生物信息学报:英文版》 CAS CSCD 2019年第1期106-117,共12页
Identifying antimicrobial resistant(AMR)bacteria in metagenomics samples is essential for public health and food safety.Next-generation sequencing(NGS)technology has provided a powerful tool in identifying the genetic... Identifying antimicrobial resistant(AMR)bacteria in metagenomics samples is essential for public health and food safety.Next-generation sequencing(NGS)technology has provided a powerful tool in identifying the genetic variation and constructing the correlations between genotype and phenotype in humans and other species.However,for complex bacterial samples,there lacks a powerful bioinformatic tool to identify genetic polymorphisms or copy number variations(CNVs)for given genes.Here we provide a Bayesian framework for genotype estimation for mixtures of multiple bacteria,named as Genetic Polymorphisms Assignments(GPA).Simulation results showed that GPA has reduced the false discovery rate(FDR)and mean absolute error(MAE)in CNV and single nucleotide variant(SNV)identification.This framework was validated by whole-genome sequencing and Pool-seq data from Klebsiella pneumoniae with multiple bacteria mixture models,and showed the high accuracy in the allele fraction detections of CNVs and SNVs in AMR genes between two populations.The quantitative study on the changes of AMR genes fraction between two samples showed a good consistency with the AMR pattern observed in the individual strains.Also,the framework together with the genome annotation and population comparison tools has been integrated into an application,which could provide a complete solution for AMR gene identification and quantification in unculturable clinical samples.The GPA package is available at https://github.com/IID-DTH/GPA-package. 展开更多
关键词 Next-generation sequencing Pool-seq Bayesian model METAGENOMICS Genetic polymorphisms
心力衰竭患者的MDR1和CYP3A4基因多态性与比索洛尔血药浓度的相关性 预览
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作者 张相杰 黄文平 许有凡 《广东医学》 CAS 2019年第15期2173-2178,共6页
目的研究细胞色素P450(CYP)3A4* 18B以及多药耐药基因1(MDR1)基因型突变对心力衰竭患者应用比索洛尔血药浓度的影响。方法选择接受治疗的心力衰竭患者共104例,均口服比索洛尔,初始剂量为5 mg/d,随后根据患者情况,逐渐增加到10 mg/d,持... 目的研究细胞色素P450(CYP)3A4* 18B以及多药耐药基因1(MDR1)基因型突变对心力衰竭患者应用比索洛尔血药浓度的影响。方法选择接受治疗的心力衰竭患者共104例,均口服比索洛尔,初始剂量为5 mg/d,随后根据患者情况,逐渐增加到10 mg/d,持续治疗4周。清晨空腹状态下,抽取静脉血后,采用PCR-RFLP法检测患者MDR1 C1236T、G2677T/A和C3435T以及CYP3A4* 18B基因型,并采用全自动生化分析仪检测比索洛尔的血药浓度,观察分析每个基因的多态性对心力衰竭患者比索洛尔血药浓度的影响。结果在MDR1 C1236T基因不同基因型患者中,CT组、TT组和CC组比索洛尔的血药浓度逐渐降低,且CT组比索洛尔的血药浓度明显高于其他两组(P<0.05),TT组和CC组之间比索洛尔的血药浓度差异无统计学意义(P>0.05);而在MDR1 G2677T/A基因不同基因型患者中,各基因型组比索洛尔的血药浓度差异无统计学意义(P>0.05);在MDR1 C3435T基因不同基因型患者中,CC组、CT组和TT组比索洛尔的血药浓度依次升高(P<0.05),CC组和CT组比索洛尔的血药浓度差异无统计学意义(P>0.05)。在CYP3A4* 18B基因不同基因型患者中,* 1/* 1组(125.6±20.4 ng/mL)、* 1/* 18B组(101.4±17.2 ng/mL)和* 18B/* 18B组(94.7±18.6 ng/mL)比索洛尔的血药浓度逐渐降低,且* 1/* 1组患者的比索洛尔的血药浓度明显高于其他两组(P<0.01),* 1/* 18B组患者的比索洛尔的血药浓度也明显高于* 18B/* 18B组(P<0.05)。结论 MDR1 C1236T、MDR1 C3435T以及CYP3A4* 18B等位基因发生突变后,都会影响心力衰竭患者比索洛尔血药浓度,而MDR1 G2677T/A等位基因发生突变后并不会影响心力衰竭患者应用比索洛尔的血药浓度。 展开更多
关键词 心力衰竭 MDR1 CYP3A4* 18B 多态性 比索洛尔 血药浓度
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CYP3A4、CYP3A5 和CYP3A7 的基因多态性对中国汉族肾移植患者他克莫司药动学的影响
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作者 邱晓燕 武卓 +2 位作者 徐璐扬 张明 钟明康 《药物流行病学杂志》 CAS 2019年第7期451-455,476共6页
目的:探讨中国汉族肾移植患者中,CYP3A5 * 3 ( rs776746)、CYP3A4 * 1G( rs2242480)、CYP3A4rs4646437、CYP3A7 rs2257401 及CYP3A7 rs10211 单核苷酸多态性对免疫抑制药他克莫司( TAC)药动学的影响。方法:采用直接测序法,对85 例肾移... 目的:探讨中国汉族肾移植患者中,CYP3A5 * 3 ( rs776746)、CYP3A4 * 1G( rs2242480)、CYP3A4rs4646437、CYP3A7 rs2257401 及CYP3A7 rs10211 单核苷酸多态性对免疫抑制药他克莫司( TAC)药动学的影响。方法:采用直接测序法,对85 例肾移植的患者进行基因分型。采用酶放大免疫分析法测定患者TAC 的谷浓度( C0)。比较不同基因型患者间TAC 浓度剂量比值的差异。结果:在85 例肾移植患者中,CYP3A5* 3 A、CYP3A4*1G T、CYP3A4 rs4646437 T、CYP3A7 rs2257401C 及CYP3A7 rs10211 G 等位基因的频率分别为29.4%,27.6%,13.5%,26.5%及27.6%。肾移植术后1 个月时,CYP3A5* 3、CYP3A7 rs2257401 及CYP3A7 rs10211 影响TAC 的谷浓度( P < 0.01)。CYP3A5* 3 A、CYP3A7 rs2257401 C 及CYP3A7 rs10211 G 等位基因携带者,TAC 剂量校正浓度分别比其相应非携带者剂量校正浓度低约50%左右。而本研究未发现CYP3A4* 1G 和CYP3A4 rs4646437 基因多态性与TAC 校正谷浓度相关( P > 0.05)。结论:在中国汉族肾移植患者中,CYP3A5 * 3、CYP3A7 rs2257401 及CYP3A7 rs10211 的单核苷酸多态性与移植术后1 个月内TAC 的药代动力学有相关性,但把这种相关性应用在临床上,以优化他克莫司的剂量,尚待进一步的研究。 展开更多
关键词 他克莫司 CYP3A5 CYP3A7 P-糖蛋白 单核苷酸多态性 肾移植
LncRNA GAS5基因启动子区5 bp插入/缺失多态性在广西地区人群中的分布 预览
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作者 刘纯宏 陆玉兰 +4 位作者 黄华佗 王艳 王春芳 蓝艳 韦叶生 《临床检验杂志》 CAS 2019年第8期603-607,共5页
目的 探讨广西地区人群中LncRNA GAS5 基因启动子区1个功能性插入/缺失位点(rs145204276I/D)多态性的分布特点,并分析广西地区人群与其他地区人群rs145204276I/D位点多态性的分布差异。方法 采用SNPscan技术对289例广西地区人群 GAS5 基... 目的 探讨广西地区人群中LncRNA GAS5 基因启动子区1个功能性插入/缺失位点(rs145204276I/D)多态性的分布特点,并分析广西地区人群与其他地区人群rs145204276I/D位点多态性的分布差异。方法 采用SNPscan技术对289例广西地区人群 GAS5 基因rs145204276I/D位点进行基因分型检测,统计其基因型和等位基因在广西地区人群不同性别间的分布,并分析其多态性与国际千人基因组计划(1000 genome project)数据库公布的欧洲人群(European,EUR)、日本人群(Japanese in Tokyo;JPT,)、西亚人群(South Asian,SAS)、美国人群(Ad Mixed American,AMR)、非洲人群(African,AFR)、北京人群(Han Chinese in Beijing,CHB)以及文献报道的南京、吉林、重庆和昆明人群的分布差异。结果 广西地区人群 GAS5 基因rs145204276I/D位点I/I、I/D和D/D基因型频率分别为48.4%、43.6%和8.0%,I和D等位基因频率分别为70.2%和 29.8%。rs145204276I/D基因型和等位基因频率在广西地区人群不同性别间比较差异无统计学意义( P >0.05)。广西地区人群 GAS5 基因rs145204276I/D位点的基因型和等位基因频率与EUR、AFR、AMR和JPT人群比较差异均有统计学意义( P 均<0.05 ),而与CHB、南京、吉林、重庆和昆明人群比较差异均无统计学意义( P > 0.05 )。结论 广西地区人群LncRNA GAS5 基因rs145204276I/D位点基因多态性在男性和女性人群中分布无差异,而其多态性与其他地区人群间比较存在不同程度的差异。 展开更多
关键词 LncRNA GAS5基因 基因多态性 广西地区人群 SNPscan
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The impact of GJA3 SNPs on susceptibility to age-related cataract
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作者 Xia-Jing Tang Xing-Chao Shentu +2 位作者 Ye-Lei Tang Xi-Yuan Ping Xiao-Ning Yu 《国际眼科杂志:英文版》 SCIE CAS 2019年第6期1008-1011,共4页
AIM: To determine the association of gap junction protein alpha 3(GJA3) gene tag single-nucleotide polymorphisms(SNPs) with susceptibility to age-related cataract(ARC).METHODS: In total, 486 ARC patients were matched ... AIM: To determine the association of gap junction protein alpha 3(GJA3) gene tag single-nucleotide polymorphisms(SNPs) with susceptibility to age-related cataract(ARC).METHODS: In total, 486 ARC patients were matched with 500 healthy controls. All the participants underwent complete ophthalmic examinations. Haplotype-tagging SNPs of GJA3 gene were selected from the HapMap Beijing Han Chinese population. Genomic DNA was extracted from the peripheral blood leukocytes of all the subjects.Under three different genetic models: dominant, recessive,and additive, the association between SNPs and ARC was examined. After adjusting for age and sex, the genetic effects of the GJA3 SNPs were evaluated with logistic regression analysis.RESULTS: Four tag GJA3 SNPs(rs6490519, rs9506430,rs9509053, and rs9552089) were included in the present study. None of the SNPs showed a significant relationship with an altered risk of total ARC under the dominant,recessive, or additive models. In the subgroup analysis,rs9506430 had a significant effect on the formation of a posterior subcapsular cataract(P=0.002, OR: 0.227, 95%CI:0.088-0.590) under the recessive model.CONCLUSION: Our study indicates that GJA3 variants may influence the development of posterior subcapsular cataracts. Further studies need to be designed to confirm this possibility. 展开更多
关键词 gap JUNCTION protein alpha 3 single-nucleotide POLYMORPHISMS AGE-RELATED CATARACT
白细胞介素-17基因多态性与尘肺易感性研究
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作者 张政 陈颖 +4 位作者 韩科 王怀宾 王苗苗 肖坤 沈福海 《中华劳动卫生职业病杂志》 CAS CSCD 北大核心 2019年第6期416-419,共4页
目的 探讨白细胞介素17(IL-17)rs4711998、rs763780基因多态性与尘肺易感性的关系,为尘肺病高危人群的预防提供依据.方法 选择219例尘肺病患者和242例接尘者为研究对象,拍摄X射线高千伏后前位胸片,按尘肺病诊断标准进行诊断;采集研究对... 目的 探讨白细胞介素17(IL-17)rs4711998、rs763780基因多态性与尘肺易感性的关系,为尘肺病高危人群的预防提供依据.方法 选择219例尘肺病患者和242例接尘者为研究对象,拍摄X射线高千伏后前位胸片,按尘肺病诊断标准进行诊断;采集研究对象外周静脉血3 ml,应用PCR-RFLP技术检测IL-17基因多态性.结果 IL-17 A的rs4711998位点分为AA、AG和GG基因型,3种基因型在两组研究对象中的分布差异无统计学意义(P>0.05).IL-17 F的rs763780位点分为AA、AG和GG基因型,3种基因型在两组中的分布差异有统计学意义(P﹤0.05),等位基因G、等位基因A在两组的差异均有统计学意义(P﹤0.05).结论 IL-17A rs4711998位点基因多态性可能与尘肺病的易感性不相关;IL-17F rs763780位点基因多态性可能与尘肺病的易感性相关,尘肺的保护基因型是AG,尘肺的保护等位基因是G等位基因. 展开更多
关键词 尘肺 白细胞介素-17 基因多态性
Effect of the interleukin 10 polymorphisms on interleukin 10 production and visceral hypersensitivity in Chinese patients with diarrhea-predominant irritable bowel syndrome
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作者 Shi-Wei Zhu Zuo-Jing Liu +1 位作者 Qing-Hua Sun Li-Ping Duan 《中华医学杂志:英文版》 SCIE CAS CSCD 2019年第13期1524-1532,共9页
Background:Irritable bowel syndrome (IBS),a functional gastrointestinal disorder,is characterized by cytokine imbalance.Previously,decreased plasma interleukin 10 (IL-10) level was reported in patients with IBS,which ... Background:Irritable bowel syndrome (IBS),a functional gastrointestinal disorder,is characterized by cytokine imbalance.Previously,decreased plasma interleukin 10 (IL-10) level was reported in patients with IBS,which may be due to genetic polymorphisms.However,there are no reports correlating the IL-10 polymorphisms with IL-10 production in patients with IBS.This study aimed to analyze the effect of IL-10 polymorphisms on IL-10 production and its correlation with the clinical symptoms in Chinese patients with diarrhea-predominant IBS (IBS-D).Methods:Two IL-10 single nucleotide polymorphisms (rs1800871 and rs1800896) were detected in 120 patients with IBS-D and 144 healthy controls (HC) using SNaPshot.IBS symptom severity score,Bristol scale,hospital anxiety,and depressive scale (HADS) were used to evaluate the clinical symptoms,as well as the psychological status and visceral sensitivity of the subjects.IL-10 levels in the plasma and peripheral blood mononuclear cell (PBMC) culture supernatant were measured using enzyme-linked immunosorbent assay,while those in ileal and colonic mucosal biopsies were measured using immunohistochemistry.Results:The frequency of rs1800896 C allele was significantly lower in the patients with IBS-D than that in the HC (odds ratio:0.49,95% confidence interval:0.27-0.92,P =0.0240).The IL-10 levels in the plasma (P =0.0030) and PBMC culture supernatant (P =0.0500) of the CT genotype subjects were significantly higher than those in the TT genotype subjects.The CT genotype subjects exhibited a higher pain threshold in the rectal distention test than the TT genotype subjects.Moreover,IL-10 rs1800871 GG genotype subjects showed an increase in the HADS score compared to other genotype subjects.Conclusions:IL-10 rs1800896 C allele is correlated with higher IL-10 levels in the plasma and the PBMC culture supernatant,which is associated with a higher pain threshold in the Chinese patients with IBS-D.This study provides an explicit relationship of IL-10 polymorphisms with IL-10 production,which 展开更多
关键词 IRRITABLE BOWEL syndrome INTERLEUKIN 10 POLYMORPHISMS VISCERAL HYPERSENSITIVITY Depression
血脂异常患者ApoE基因型对他汀类药物降脂疗效的影响 预览
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作者 何思颖 杜鹏辉 +2 位作者 张磊 杨娜 郑芳 《国际检验医学杂志》 CAS 2019年第11期1337-1341,共5页
目的 探讨载脂蛋白E(ApoE)基因型对他汀类药物调脂效果的影响。方法 收集2016年9月至2017年4月于武汉大学中南医院就诊的血脂异常伴他汀类用药记录患者223例,收集其全血、血清样本和临床资料。Sanger测序确定ApoE基因型,用药前后分别检... 目的 探讨载脂蛋白E(ApoE)基因型对他汀类药物调脂效果的影响。方法 收集2016年9月至2017年4月于武汉大学中南医院就诊的血脂异常伴他汀类用药记录患者223例,收集其全血、血清样本和临床资料。Sanger测序确定ApoE基因型,用药前后分别检测血清总胆固醇(TC)、三酰甘油(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)和脂蛋白a[Lp(a)]水平。将受试者归为E2(e2/e2&e2/e3),E3(e3/e3&e2/e4),E4(e3/e4&e4/e4)3个表型组,方差分析比较各组“血脂变化率”,并联合药物分类及吸烟饮酒状况分析。结果 表型组分析显示3组在TC、TG、HDL-C和LDL-C的血脂变化率有差异且差异具有统计学意义(P<0.05),Lp(a)变化差异无统计学意义(P>0.05)。各表型对不同种类他汀药物敏感性存在差异趋势,但各表型用药者TC,TG,HDL-C和LDL-C水平均有改善,改善程度E2型>E3型>E4型。吸烟饮酒对TC降脂效果存在影响,其变化率在表型组间的差异有统计学意义(P<0.05)。结论 ApoE基因型影响他汀类药物调脂能力,吸烟饮酒对ApoE2型患者的他汀药物降TC效果影响显著。 展开更多
关键词 载脂蛋白E 基因多态性 他汀类药物 降脂疗效
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Association between CYP2C19*2/*3Polymorphisms and Coronary Heart Disease 预览
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作者 Ying-ying ZHANG Xin ZHOU +4 位作者 Wen-jie JI Ting LIU Jing MA Ying ZHANG Yu-ming LI 《当代医学科学(英文)》 SCIE CAS 2019年第1期44-51,共8页
This study sought to explore the relationship between cytochrome P450 2C19(CYP2C19)*2/*3 polymorphisms and the development of coronary heart disease(CHD),and to evaluate the influence of the single nucleotide polymorp... This study sought to explore the relationship between cytochrome P450 2C19(CYP2C19)*2/*3 polymorphisms and the development of coronary heart disease(CHD),and to evaluate the influence of the single nucleotide polymorphisms(SNPs)on the occurrence of adverse clinical events in CHD patients.A total of 231 consecutive patients candidate for percutaneous coronary intervention genotyped for CYP2C19*2(681G>A)and*3(636G>A)polymorphisms were enrolled.The adverse clinical events were recorded during a follow-up period of 14 months.The incidence of CHD,according to coronary angiography,was significantly higher(P=0.025)in CYP2C19*2 carriers group.Stepwise binary logistic regression analysis revealed that among factors that potentially influenced the presence of CHD(age>60 years,gender,BMI,etc.),CYP2C19*2 carriers(OR 1.94,95%CI:1.08-3.50,P=0.028)and male gender(OR 2.74,95%CI:1.58-4.76,P=0.001)were independent predictors,which were associated with the presence of CHD.The follow-up results showed that the incidence of adverse cardiovascular events within 14 months of discharge was significantly higher in the CYP2C 19*2 carriers than in the non-carriers(21.6%vs.6.3%,P=0.019).The results of the multivariate Cox proportional hazards model showed that CYP2C19*2 loss-of-flinction was the only independent factor which predicted the coronary events during the follow-up period of 14 months(OR=3.65,95%CI:1.09-12.25,P=0.036).The adverse impact of CYP2C19*2 polymorphisms was found not only in the risk of the presence of CHD,but also in the adverse cardiovascular events in CHD patients during the follow-up period of 14 months.However the same influence was not found in CYP2C19*3 mutation in Chinese Han population. 展开更多
关键词 CYTOCHROME P450 2C19 POLYMORPHISMS coronary heart disease CLOPIDOGREL
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Association of decoy receptors and osteoprotegerin gene polymorphisms with susceptibility and clinical phenotypes of Crohn’s disease
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作者 邵晓晓 《中国医学文摘:内科学分册(英文版)》 2019年第2期105-106,共2页
Objective To investigate the correlation between decoyreceptor ( DcR) 1,DcR2,osteoprotegerin ( OPG) gene polymorphisms and susceptibility of Crohn's disease(CD) in Han population in Zhejiang province. MethodsFrom ... Objective To investigate the correlation between decoyreceptor ( DcR) 1,DcR2,osteoprotegerin ( OPG) gene polymorphisms and susceptibility of Crohn's disease(CD) in Han population in Zhejiang province. MethodsFrom April 2008 to July 2017,at the Department of Gastroenterologyof The Second Affiliated Hospital ofWenzhou Medical University,The First Affiliated Hospitalof Wenzhou Medical University,Central Hospital ofWenzhou and Renmin Hospital of Wenzhou,285 patientsdiagnosed as having CD were enrolled,and during thesame period 572 healthy individuals who received healthcheckup at the Second Affiliated Hospital of WenzhouMedical University were collected as healthy control. Thesingle nucleotide polymorphism ( SNP ) of DcR1( rs12549481 ), DcR2 ( rs1133782 ) and OPG( rs3102735) were examined by SNaPshot technique. 展开更多
关键词 ASSOCIATION of DECOY receptors and OSTEOPROTEGERIN gene polymorphisms with SUSCEPTIBILITY and clinical PHENOTYPES of Crohn’s disease
LAMC1, LAMA2 and LAMA3 gene polymorphisms and the risk for severe pelvic organ prolapse
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作者 Lei Li Jia Kang +6 位作者 Ye Zhang Meng Mao Yuxiang Yang Jinghe Lang Zhijing Sun Juan Chen Lan Zhu 《科学通报:英文版》 SCIE EI CSCD 2019年第7期466-468,共3页
Pelvic organ prolapse (POP) is the descent of the pelvic organs,including bladder, uterus, vagina and rectum, resulting in pelvic discomfort, urinary and fecal incontinence and sexual dysfunction(1)The prevalence of s... Pelvic organ prolapse (POP) is the descent of the pelvic organs,including bladder, uterus, vagina and rectum, resulting in pelvic discomfort, urinary and fecal incontinence and sexual dysfunction(1)The prevalence of symptomatic POP in China is 9.56%according to a cross-sectional study involving 54,000 adult women in six provinces in the mainland of China (unpublished data). The etiology of this disorder is multifactorial, including race, age, body mass index(BMI), parity and menopause (1)The loss of the integrity of vaginal connective tissue has been demonstrated to weaken the pelvic floor support and promote the development of POP. 展开更多
关键词 POP LAMA2 and LAMA3 gene polymorphisms and the RISK for SEVERE PELVIC ORGAN PROLAPSE LAMC1
CD133基因3-UTR区域变异位点与云南汉族人群非小细胞肺癌的相关性 预览
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作者 洪超 赵雨笛 +6 位作者 谭芳 李盈甫 马千里 刘楠楠 刘舒媛 史荔 李传印 《贵州医科大学学报》 CAS 2019年第1期26-30,共5页
目的:研究CD133基因3-UTR区域变异位点(rs2240688和rs3130)单核苷酸多态性位点(SNPs)与云南汉族人群非小细胞肺癌的相关性。方法:选取420例云南汉族非小细胞肺癌患者为病例组,588例云南汉族健康个体作为对照组;采用TaqMan探针基因分型... 目的:研究CD133基因3-UTR区域变异位点(rs2240688和rs3130)单核苷酸多态性位点(SNPs)与云南汉族人群非小细胞肺癌的相关性。方法:选取420例云南汉族非小细胞肺癌患者为病例组,588例云南汉族健康个体作为对照组;采用TaqMan探针基因分型方法对2组受试者CD133基因中rs2240688和rs3130位点进行基因分型,并采用χ^2检验分析上述两SNPs位点等位基因、基因型及构建的单倍型分布频率在病例组与对照组中的差异。结果:病例组与对照组rs2240688位点等位基因和基因型分布频率比较差异有统计学意义(P=0.013、0.033),而两组rs3130等位基因和基因型分布频率比较差异无统计学意义(P>0.05),rs2240688位点等位基因G是云南汉族非小细胞肺癌的风险性因素(OR=1.301,95%CI为1.056~1.601),rs2240688及rs3130间存在强连锁(D′>0.8);构建的两个SNPs位点的单倍型中rs2240688G-rs3130C与肺癌风险升高有关(OR=1.238,95%CI为1.003~1.528),而单倍型rs2240688T-rs3130C可能是肺癌发生的保护性因素(OR=0.828,95%CI为0.690~0.994)。结论:CD133基因3-UTR区域的SNP位点rs2240688与云南汉族人群非小细胞肺癌相关,等位基因G可能是云南汉族人群非小细胞肺癌的风险性因素。 展开更多
关键词 非小细胞肺 基因 CD133 3-UTR 多态性 单核苷酸 云南 汉族
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Identification of two novel GATA6 mutations in an adult with acute myocardial infarction,diabetes,and atrial fibrillation:a case report 预览
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作者 Zhao-Qing SUN Ying-Hua CUI Bo YAN 《老年心脏病学杂志:英文版》 SCIE CAS CSCD 2019年第10期785-788,共4页
With the aging of the world’s population, the incidence of coronary atherosclerotic disease (CAD) is gradually increasing, which places a heavy burden on social development.[ 1] Acute myocardial infarction (AMI) is t... With the aging of the world’s population, the incidence of coronary atherosclerotic disease (CAD) is gradually increasing, which places a heavy burden on social development.[ 1] Acute myocardial infarction (AMI) is the most serious stage in the development of CAD and can lead to cardiac arrest. 展开更多
关键词 GATA binding protein 6 Gene therapy Human diseases Sequence VARIATIONS Single NUCLEOTIDE POLYMORPHISMS
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血液肿瘤患者中多药耐药基因多态性对大剂量甲氨蝶呤不良事件影响的分析
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作者 刘爽 宋再伟 +1 位作者 易湛苗 赵荣生 《中国临床药理学杂志》 CAS CSCD 北大核心 2019年第19期2421-2425,共5页
目的探究血液肿瘤患者中多药耐药基因(MDR1)C3435T多态性对大剂量甲氨蝶呤(HDMTX)不良事件的影响。方法系统检索MedLine(ovid)、EmBase(ovid)、Clinical Trials.gov、中国知网、万方、中国生物医学文献数据库,时限均为建库至2018年3月。... 目的探究血液肿瘤患者中多药耐药基因(MDR1)C3435T多态性对大剂量甲氨蝶呤(HDMTX)不良事件的影响。方法系统检索MedLine(ovid)、EmBase(ovid)、Clinical Trials.gov、中国知网、万方、中国生物医学文献数据库,时限均为建库至2018年3月。用Review Manager 5.3软件对不同基因型下HDMTX不良事件进行Meta分析。结果共纳入12篇高质量队列研究(涉及1087名患者)其中9篇研究纳入Meta分析3篇研究纳入定性分析。分别有5,7,8和7篇研究关注HDMTX的血液毒性(骨髓抑制)、肝毒性、口腔黏膜炎及其他毒性(神经毒性、肾毒性、消化道毒性、整体毒性),9篇研究关注血药浓度。Meta分析结果提示,MDR1 C3435T多态性显著增加了血液肿瘤患者肝毒性发生风险(TT/CT vs.CC,OR=1.82,95%CI=1.11~2.97;TT vs. CT/CC,OR=3.10,95%CI=1.46~6.57;T vs. C,OR=1.93,95%CI=1.05~3.55),但敏感性分析提示结果不稳定;而MDR1 C3435T多态性与血液毒性(骨髓抑制)、口腔黏膜炎及其他毒性(神经毒性、肾毒性、消化道毒性、整体毒性)均无明显相关性。定性分析结果提示,突变型增加了HDMTX 24 h及72 h排泄延迟发生风险,对于42~48 h排泄延迟发生风险的影响结论各异。结论MDR1 C3435T可能增加了血液肿瘤患者肝毒性发生风险,与血液毒性(骨髓抑制)、口腔黏膜炎及其他毒性(神经毒性、肾毒性、消化道毒性、整体毒性)均无明显相关性,MDR1 C3435T对不同时间点MTX排泄延迟的影响可能不同。 展开更多
关键词 大剂量甲氨蝶呤 多药耐药基因 基因多态性 不良事件 系统评价
CD133基因3-UTR区域变异位点与云南汉族人群宫颈癌的相关性 预览
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作者 周紫云 姚宇峰 +5 位作者 张新文 杨龙雨 陈珺 戴书颖 史荔 严志凌 《贵州医科大学学报》 CAS 2019年第1期31-34,58共5页
目的:研究CD133基因3-UTR区域的(rs2240688和rs3130)单核苷酸多态性位点(SNPs)与云南汉族人群宫颈癌的相关性。方法:选取云南汉族宫颈癌患者428例作为病例组,455例云南汉族健康个体作为对照组;采用TaqMan探针基因分型方法对2组受试者CD... 目的:研究CD133基因3-UTR区域的(rs2240688和rs3130)单核苷酸多态性位点(SNPs)与云南汉族人群宫颈癌的相关性。方法:选取云南汉族宫颈癌患者428例作为病例组,455例云南汉族健康个体作为对照组;采用TaqMan探针基因分型方法对2组受试者CD133基因中rs2240688和rs3130位点进行基因分型,并采用χ^2检验分析上述两SNPs位点等位基因、基因型及构建的单倍型分布频率在病例组与对照组中的差异。结果:rs2240688位点等位基因和基因型分布频率在病例组和对照组比较,差异具有统计学意义(P=0.019、0.040),该位点等位基因G是宫颈癌的风险性因素(OR=1.292,95%CI为1.042~1.601);而rs3130位点等位基因和基因型分布频率在病例组和对照组比较,差异无统计学意义(P>0.05);单倍型分析结果显示,单倍型rs2240688G-rs3130C是宫颈癌发生的风险性因素(P=0.023,OR=1.300,95%CI为1.037~1.630)。结论:CD133基因3-UTR区域的SNP位点rs2240688与云南汉族人群宫颈癌的发病风险相关,该位点等位基因G可能是宫颈癌发生的风险性因素。 展开更多
关键词 宫颈肿瘤 基因 CD133 3-UTR 多态性 单核苷酸 云南 汉族
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Redox,immune and genetic biomarker system for personalized treatments in colorectal cancer 预览
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作者 Anna Maria Berghella Anna Aureli +3 位作者 Angelica Canossi Tiziana Del Beato Alessia Colanardi Patrizia Pellegrini 《世界胃肠肿瘤学杂志:英文版(电子版)》 CAS 2019年第2期117-138,共22页
BACKGROUND Identifying biomarkers for the risk of developing degenerative processes linked to aging and colorectal cancer(CRC)onset that could improve clinical strategies.AIM To determine valid targets and a predictiv... BACKGROUND Identifying biomarkers for the risk of developing degenerative processes linked to aging and colorectal cancer(CRC)onset that could improve clinical strategies.AIM To determine valid targets and a predictive biomarker’s system of chronicization of inflammation for cancer treatment.METHODS A group of 147 CRC patients was studied.Clinical diagnosis was confirmed histopathologically,and patients were sub-typed using the pathological tumornode-metastasis classification.Thirteen colon adenoma patients and 219 healthy subjects were also studied.A system biology study on Thioredoxin1/CD30 redox-immune systems(Trx1/CD30),T helper cytokines and polymorphisms of killer immunoglobulin-like receptors,FcγRIIa-131H/R and FcγRIIIa-158V/F was carried out.Enzyme-linked immunosorbent assay was performed to analyze sera.Genetic study was executed by polymerase chain reaction sequence-specific primers and sequence-based typing method.Statistical analysis was performed by using the“Statgraphics software systems”.RESULTS We found a positive increase between Trx1/RTrx1 levels and sCD30 level and increased age.With respect to the gender relationships,there were distinct differences.Females showed a primary relationship between transforming growth factor beta(TGFβ)with Trx1,whereas males had one with TGFβand RTrx1.Trx1/CD30 controls the redox immune homeostasis,and an imbalance in the relationship between the Trx1/RTrx1 and sCD30 levels is linked to the onset and progression of tumor.This event happens through different gender-specific cytokine pathways.Our study demonstrated that the serum levels of Trx1/RTrx1,TGFβ/interleukin(IL)6 and TGFβ/IL4 combinations and the sCD30,IFNγand IL2 combination constitute a predictive gender specific biomarker system.This is relevant for clinical screening to detect the risk of the potential development or progression of a tumor.CONCLUSION Oxidative stress on Trx1/CD30 is a trigger of cancer disease,and the selected oxidation and immune products are a biomarker system for aging a 展开更多
关键词 AGING and CANCER BIOMARKER CANCER personalized treatments Oxidation and IMMUNE biomarkers Trx1/CD30 target KIRs and FCΓR polymorphisms Th cytokines AGING and disease Cancer-related mechanisms
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ERCC1基因多态性与胰腺导管腺癌易感性的Meta分析
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作者 吴飏 张纯 +2 位作者 陆子鹏 蒋奎荣 张晓艳 《南京医科大学学报:自然科学版》 CAS CSCD 北大核心 2019年第6期941-945,共5页
目的:探讨切除修复交叉互补基因1(excision repair cross complementing 1,ERCC1)2种最常见的基因多态性(rs3212986、rs11615)与胰腺导管腺癌(pancreatic ductal adenocarcinoma,PDAC)患病风险的相关性。方法:检索PubMed、EMBASE、Web o... 目的:探讨切除修复交叉互补基因1(excision repair cross complementing 1,ERCC1)2种最常见的基因多态性(rs3212986、rs11615)与胰腺导管腺癌(pancreatic ductal adenocarcinoma,PDAC)患病风险的相关性。方法:检索PubMed、EMBASE、Web of Science、中国知网文献数据库,查找国内外关于ERCC1多态性(rs3212986、rs11615)与PDAC易感性关系的病例对照研究。由2名评价者根据纳入标准分别独立筛选文献并提取数据后,采用Stata12.0软件进行Meta分析。结果:共纳入8项病例对照研究,其中ERCC1 rs3212986纳入4项研究共1 934例患者,rs11615纳入4项研究共2 547例患者。结果显示,ERCC1rs3212986可显著提高人群PDAC的患病风险(CA vs. AA:OR=1.34,95%CI:1.11~1.63;CC vs. AA:OR=2.33,95%CI:1.73~3.14;AC+CC vs. AA:OR=1.50,95%CI:1.25~1.80;CC vs. CA+AA:OR=1.98,95%CI:1.50~2.62;C vs. A:OR=1.45,95%CI:1.27~1.66);而ERCC1 rs11615则与PDAC患病风险无关(CT vs. TT:OR=1.02,95%CI:0.87~1.21;CC vs. TT:OR=1.21;95%CI:0.93~1.56;TC+CC vs. TT:OR=1.06,95%CI:0.91~1.24;CC vs. CT+TT:OR=1.20,95%CI:0.94~1.53;C vs. T:OR=1.08,95%CI:0.96~1.21)。结论:ERCC1 rs3212986可明显增加PDAC发病风险,rs11615则与PDAC易感性无关。 展开更多
关键词 切除修复交叉互补基因1 基因多态性 胰腺导管腺癌 META分析
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