期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

与人类疾病的发病和治疗相关的全基因组关联研究进展 被引量：1

Progress in genome-wide association study related to disease and its treatment in human being
下载PDF
导出
摘要 全基因组关联研究(GWAS)是从遗传变异着手,研究人类复杂疾病致病机制和药物疗效差异的一种有效的实验方法和手段,对人类疾病的发病和治疗具有非常重要的意义。本综述从GWAS的研究基础、研究对象、研究模式和主要研究内容等方面概述了国际上GWAS的最新研究进展。 Nowadays, genome - wide association study （GWAS） is one of the most effective methods in dissecting the genetic basis of complex diseases and drug response with significant importance for human disease development and treatment. In this overview, the newest advancement in this field with respect to the basis, objects, pattern and contents of GWAS were summarized.
作者 范岚 张伟 周宏灏
机构地区 中南大学临床药理研究所
出处 《中国临床药理学杂志》 CAS CSCD 北大核心 2010年第4期307-310,共4页 The Chinese Journal of Clinical Pharmacology
基金 国家自然科学基金资助项目(30901834 30801421 30672497 30472054) 国家科技重大专项"重大新药创制"科技专项(2009ZX09501-032)基金资助项目 教育部青年教师基金资助项目(20090162120023 20070533002) 国家新药研究重点实验室开放课题基金资助项目(SIMM0812KF-01) 湖南省科技计划基金资助项目(2009SK3004 2009JT3020)
关键词 全基因组关联研究 药物基因组学 单核苷酸多态性 拷贝数变异 连锁不平衡 genome - wide association study pharmacogenomics single nucleotide polymorphism copy number variation linkage disequilibrium
分类号 R968 [医药卫生—药理学] R969 [医药卫生—药理学]
  • 相关文献

参考文献48

  • 1Wang WY, Barratt BJ, Clayton DG, et al. Genome -wide association studies: theoretical and practical concerns [ J ]. Nat Rev Genet, 2005; 6: 109-118.
  • 2Hirschhorn JN, Daly MJ. Genome -wide association studies for common diseases and complex traits [ J ]. Nat Rev Genet, 2005 ; 6 :95 -108.
  • 3Risch N, Merikangas K. The future of genetic studies of complex human diseases[J].Science, 1996; 273 : 1516 - 1517.
  • 4International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome [ J ]. Nature, 2001 ; 409 : 860 - 921.
  • 5Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome[ J]. Science,2001 ; 291 : 1304 - 1351.
  • 6International SNP Map Working Group. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms[ J ]. Nature,2001 ; 409 : 928 - 933.
  • 7Sebat J, Lakshmi B, Troge J, et al.Large - scale copy number polymorphism in the human genome [ J ]. Science, 2004 ; 305 : 525 - 528.
  • 8Iafrate AJ, Feuk L, Rivera MN, et al. Detection of large - scale variation in the human genome[ J]. Nat Genet, 2004; 36:949 - 951.
  • 9Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome[ J ]. Nature, 2006 ; 444 : 444 - 454.
  • 10Stranger BE, Forrest MS, Dunning M, et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes [J]. Science, 2007; 315:848-853.

同被引文献14

  • 1The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing [J]. Nature,2010,467(7319) :1061-1073.
  • 2Amberger J,Boechini C, Hamosh A. A new face and new ehMlenges for Online Mendelian Inheritance ;,n Man (OMIM) [J]. Hum Mutat, 2011,32 (5) : 564-567.
  • 3Klein RJ,Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related maeular degeneration [J]. Science, 2005,140(2) :352.
  • 4Zhang XJ, Huang W, Yang S,et al. Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at lq21[J]. Nature Genetics, 2009,41 : 205-210.
  • 5Flan JW, Zheng HF, Cui Y, et al. Genome-wide associa tion study in a Chinese Han population identifies ninenew susceptibility loci for systemic lupus erythematosus [J]. Nat Genet, 2009,41 (11 ) : 1234-1237.
  • 6Daly AK. Genome-wide association studies in pharmacog- enomics[J]. Nat Rev Genet, 2010,11 (4) : 241-246.
  • 7Takeuchi F, McGinnis R, Bourgeois S, et al. A genome- wide association study confirms VKORC1, CYP2Cg, and CYP4F2 as principal genetic determinants of warfarin dose[J]. PLoS Genet,2009,5(3):e1000433.
  • 8Inada T, Koga M, Ishiguro H,et al. Pathway-based asso- ciatio: analysis of genome-wide screening data suggest that genes associated with the gamma-aminohutyric acid receptor signaling pathway are involved in neuroleptic-in- duced,treatment-resistant tardive dyskinesia[J]. Pharma- cogenet Genomics, 2008,18 (4) : 317-323.
  • 9SEARCH Collaborative Group. SLCO1B1 variants and statin-induced myopathy--a genomewide study[J]. N En- gl J Med,2008,359(8) :789-799.
  • 10Tanaka Y, Kurosaki M, Nishida N, et al. Genome-wide as- sociation study identified ITPA/DDRGK1 variants reflec- ting thrombocytopenia in pegylated interferon and ribavi- rin therapy for chronic hepatitis C[M]. Hum Mol Genet In press,2011:5-8.

引证文献1

二级引证文献2

中国临床药理学杂志
2010年 第4期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部