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ORMDL3基因多态性与哮喘的相关性 被引量：1

The relationship between ORMDL3 gene polymorphism and asthma
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摘要 哮喘是一种非常复杂的表型异质性疾病,是受遗传和环境因素双重影响的多基因遗传病,通过全基因组关联研究显示,1 7号染色体ORMDL3基因是迄今为止发现的与哮喘关联最有充分证据的基因,而SNP(rs7216389)是哮喘最显著的相关标记。本综述将概述ORMDL3基因、ORMDL3基因产物功能、ORMDL3基因多态性与哮喘的相关性,及哮喘主要相关位点SNP(rs7216389)和SNP(rs1051740)等方面的研究成果。 Asthma is a very complex disease of phenotype heterogeneity and is multi-gene genetic diseases,influenced by an intricate interplay of genetic and environmental factors.A genome-wide association study（GWAS） demonstrated that 17 chromosome ORMDL3 gene was strongly and positively associated with the asthma so far,rs7216389 was the most significant asthma-related marker.This review will review the outline of ORMDL3 gene,the function of ORMDL3 gene product,the correlation of ORMDL3 gene polymorphism with asthma,and the research progress of the main asthma-related locus——SNP（rs7216389） and SNP（rs1051740）.
作者 黄汉琮 曾林祥
机构地区 南昌大学第二附属医院呼吸内科分子医学重点实验室
出处 《生命的化学》 CAS CSCD 北大核心 2010年第6期937-940,共4页 Chemistry of Life
关键词 哮喘 ORMDL3基因 基因多态性 rs7216389 rs1051740 asthma ORMDL3 gene gene polymorphism rs7216389 rs1051740
分类号 R562.25 [医药卫生—呼吸系统]
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参考文献19

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同被引文献31

  • 1Wylie B. Family history as a predictor of asthma risk. Am J Prey Med, 2003, 24: 160-169.
  • 2Ober C, Hoffjan S. Asthma genetics 2006 : the long and winding road to gene discovery. Genes Immun, 2006, 7 : 95-100.
  • 3Vercelli D. Discovering susceptibility genes for asthma and allergy. Nat Rev Immunol, 2008, 8: 169-182.
  • 4Moffatt MF. Genes in asthma: new genes and new ways. Curr Opin Allergy Clin Immunol, 2008, 8: 411-417.
  • 5Hakala BE, White C, Recklies AD. Human cartilage gp-39, a major secretory product of articular chondro- cytes and synovial ceils, is a mammalian member of achitinase protein family. J Biol Chem, 1993, 268: 25803-25810.
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  • 7Sohn MH, Lee JH, Kim KW, et al. Genetic variation in the promoter region of chitinase 3-like 1 is associated with atopy. Am J Respir Crit Care Med, 2009, 179: 449456.
  • 8Tang H, Fang Z, Sun Y, et al. YKL-40 in asthmatic patients, and its correlations with exacerbation, eosino- phils and immunoglobulin E. Eur Respir J, 2010, 35 : 757 -760.
  • 9Wu AC, Lasky-su J, Rogers CA, et al. Polymorphisms of chitinases are not associated with asthma. J Allergy Clin Immunol, 2010, 125: 754-757.
  • 10Moffatt MF, Kabesch M, Liang L, et al. Genetic vari- ants regulating ORMDL3 expression contributet to the risk of childhood asthma. Nature, 2007, 448 : 470473.

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生命的化学
2010年 第6期

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