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人类宿主易感基因多态性与结核病和耐药结核病发生的相关性研究进展
耐药和耐多药结核病(MDR-TB)的流行是目前结核病疫情居高不下的重要原因,根据我国2007-2008年开展的全国结核病耐药性基线调查结果估算,我国每年新发MDR-TB患者12万例,占全球每年新发总数(51万)的24.0%,位居全球第2位.导致MDR-TB发生的高危因素有糖尿病、营养不良、人免疫缺陷病毒(HIV)感染和免疫抑制治疗等宿主因素,不合理用药方案、错误用药剂量和不规则用药等医疗因素,以及受教育水平低等社会因素,但仍有相当一部分患者并不存在上述情况.
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基因多态性与抗血小板治疗
抗血小板药物主要包括阿司匹林、噻吩并吡啶类衍生物和糖蛋白Ⅱb/Ⅲa受体拮抗剂.但是随着抗血小板药物的广泛使用,人们发现并不是所有规范用药的患者都能获得一致的临床疗效,于是有人提出了阿司匹林抵抗和氯吡格雷抵抗概念.尽管具体机制尚不清楚,但是可以肯定的是,个体的遗传基因起着重要的作用.现结合近年文献对基因多态性与抗血小板治疗效果的关系进行综述.
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专题演讲-W1毒理基因组学与蛋白质组学
Pharmacogenomics was established on the fact that certain genetic polymorphisms may cause significantly different responses among individuals exposed to a particular drug. Single nucleotide polymorphism (SNP) is the most common form of genetic polymorphism in human genome.
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胰腺癌与饮食、幽门螺旋菌和宿主的炎性细胞素遗传多态性
Pancreatic cancer is a not- infrequent cause of cancer death, ranking below only lung, prostate or breast, and colorectal cancer in many countries.
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男性冲动攻击行为的15个短串联重复序列基因位点等位基因频率的病例对照研究
背景:遗传多态性短串联重复序列(short tandem repeats, STRs)分析是用于检测基因型和表型之间关联的公认方法,但它以前没有在冲动攻击行为的遗传学研究中使用。
目的:在有冲动攻击行为史的男性和无冲动攻击行为史的男性对照组之间,比较15个STR基因位点(D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818和FGA)不同多态性的发生率。
方法:应用AmpFlSTR?Identifiler?试剂盒比较407个有冲动性攻击行为的案例和415个对照的15个STR基因位点等位基因的分布。
结果:有冲动攻击行为史的男性以下等位基因的平均频率显著低于对照组:TH01的等位基因10(OR=0.29,95%CI=0.16-0.52, p<0.0001), TPOX的等位基因8(OR=0.71,95%CI=0.58-0.86, p=0.0005), TPOX的等位基因9(OR=0.65,95%CI=0.47-0.89, p=0.0072),和CSF1PO的等位基因14(OR=0.27,95%CI=0.11-0.68, p=0.0035)。而案例组有一个等位基因频率显著高于对照组:TPOX的等位基因11(OR=1.79,95%CI=1.45-2.22, p<0.0001)。
结论:据我们所知,本项行为遗传学研究首次清楚表明了特定的遗传标记与非精神病罪犯的冲动暴力行为之间的密切关系。进一步的前瞻性工作将需要确定已辨识出的等位基因是否可以被认为是冲动攻击行为的危险因素以及导致这种关系的基本机制。 -
AIM:Heart failure is characterized by immune activation leading to production and release of proinflammatory cytokines .Inter-leukin 17A (IL-17A) is a proinflammatory cytokine and multiple lines of evidence from animal and human studies suggest crucial roles of IL-17A in heart failure.Therefore, we investigated whether common polymorphisms of genes IL17A and IL17RA (coding interleukin 17 receptor A) gene contribute to genetic predisposition to heart failure and adverse clinical outcomes associated with it .METHODS AND RESULTS:A total of 1713 adults patients with congestive heart failure and 1713 age-and sex-matched controls were genotyped for promoter SNPs, rs2275913 and rs8193037 in IL17A and rs4819554 in IL17RA, to assess the relationship between individual SNPs and the risk of congestive heart failure .Results showed that rs8193037 in IL17A was associated with the risk of congestive heart failure (P<0.01) after adjustment for multiple cardiovascular risk factors including age , sex, smoking status, diabetes, hypertension and dyslipidemia.This association was evident in both ischemic and non-ischemic heart failure (P<0.05).Furthermore, prospective fol-low-up of 12.7 months for the occurrence of adverse clinical outcomes showed that rs 4819554 in IL17RA was significantly associated with cardiovascular mortality (P<0.05) after adjustments for multiple cardiovascular risk factors and New York Heart Association functional class.CONCLUSION:This study demonstrated associations of rs8193037 in the promoter of IL17A with the risk of conges-tive heart failure, and of rs4819554 in the promoter of IL17RA with the risk of cardiovascular mortality in patients with congestive heart failure.These data lend further support to the notion that immune activation and genetic polymorphisms contribute to heart failure path -ogenesis and progression .