哮喘与特应性疾病的关联研究：文献综述
Association studies for asthma and atopic diseases: a comprehensive review of the literature.
作者信息
Hoffjan Sabine, Nicolae Dan, Ober Carole
机构信息
Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA.
出版信息
Respir Res. 2003 Dec 4;4(1):14. doi: 10.1186/1465-9921-4-14. Print 2003.
Abstract
Hundreds of genetic association studies on asthma-related phenotypes have been conducted in different populations. To date, variants in 64 genes have been reported to be associated with asthma or related traits in at least one study. Of these, 33 associations were replicated in a second study, 9 associations were not replicated either in a second study or a second sample in the same study, and 22 associations were reported in just a single published study. These results suggest the potential for a great amount of heterogeneity underlying asthma. However, many of these studies are methodologically limited and their interpretation hampered by small sample sizes.
摘要
针对哮喘相关表型，已经在不同人群中开展了数百项基因关联研究。迄今为止，至少在一项研究中，已有报告称64个基因中的变异与哮喘或相关特征有关。其中，33个关联在第二项研究中得到了重复验证，9个关联在第二项研究或同一研究的第二个样本中未得到重复验证，22个关联仅在一项已发表的研究中被报告。这些结果表明哮喘背后可能存在大量的异质性。然而，这些研究中有许多在方法上存在局限性，且由于样本量小而妨碍了对其结果的解读。
相似文献
1
Association studies for asthma and atopic diseases: a comprehensive review of the literature.哮喘与特应性疾病的关联研究：文献综述
Respir Res. 2003 Dec 4;4(1):14. doi: 10.1186/1465-9921-4-14. Print 2003.
2
Genetic predisposition to asthma and atopy.哮喘和特应性的遗传易感性。
Respiration. 2007;74(1):8-12. doi: 10.1159/000096833.
3
Etiological relationships in atopy: a review of twin studies.特应性的病因关系：双胞胎研究综述
Twin Res Hum Genet. 2008 Apr;11(2):112-20. doi: 10.1375/twin.11.2.112.
4
Replication of genetic association studies in asthma and related phenotypes.哮喘及相关表型的遗传关联研究复制。
J Hum Genet. 2010 Jun;55(6):342-9. doi: 10.1038/jhg.2010.32. Epub 2010 Apr 16.
5
Genetic heterogeneity of asthma phenotypes identified by a clustering approach.聚类分析鉴定的哮喘表型的遗传异质性。
Eur Respir J. 2014 Feb;43(2):439-52. doi: 10.1183/09031936.00032713. Epub 2013 Dec 5.
6
Discovering susceptibility genes for asthma and allergy.发现哮喘和过敏的易感基因。
Nat Rev Immunol. 2008 Mar;8(3):169-82. doi: 10.1038/nri2257.
7
Genetic variation in immunoregulatory pathways and atopic phenotypes in infancy.婴儿期免疫调节途径的基因变异与特应性表型
J Allergy Clin Immunol. 2004 Mar;113(3):511-8. doi: 10.1016/j.jaci.2003.10.044.
8
Association of vitamin D receptor genetic variants with susceptibility to asthma and atopy.维生素D受体基因变异与哮喘和特应性易感性的关联。
Am J Respir Crit Care Med. 2004 Nov 1;170(9):967-73. doi: 10.1164/rccm.200403-412OC. Epub 2004 Jul 28.
9
[Biological and genetic basis of atopy and asthma].[特应性和哮喘的生物学及遗传学基础]
Allergol Immunopathol (Madr). 1998 Mar-Apr;26(2):59-73.
10
The Asian side of asthma and allergy.哮喘与过敏的亚洲方面。
Curr Opin Allergy Clin Immunol. 2008 Oct;8(5):384-90. doi: 10.1097/ACI.0b013e3283103a8e.
引用本文的文献
1
The Role of Airway Epithelial Cell Alarmins in Asthma.气道上皮细胞警报素在哮喘中的作用。
Cells. 2022 Mar 24;11(7):1105. doi: 10.3390/cells11071105.
2
Potential Metabolic Biomarkers in Adult Asthmatics.成年哮喘患者潜在的代谢生物标志物
Metabolites. 2021 Jun 30;11(7):430. doi: 10.3390/metabo11070430.
3
Household mold exposure interacts with inflammation-related genetic variants on childhood asthma: a case-control study.家庭霉菌暴露与炎症相关的遗传变异在儿童哮喘中的相互作用：一项病例对照研究。
BMC Pulm Med. 2021 Apr 2;21(1):114. doi: 10.1186/s12890-021-01484-9.
4
Genomic Predictors of Asthma Phenotypes and Treatment Response.哮喘表型和治疗反应的基因组预测指标
Front Pediatr. 2019 Feb 5;7:6. doi: 10.3389/fped.2019.00006. eCollection 2019.
5
Lessons from ten years of genome-wide association studies of asthma.哮喘全基因组关联研究十年的经验教训。
Clin Transl Immunology. 2017 Dec 15;6(12):e165. doi: 10.1038/cti.2017.54. eCollection 2017 Dec.
6
Association between Small Fetuses and Puberty Timing: A Systematic Review and Meta-Analysis.小于胎龄儿与青春期时间的关联：一项系统评价与荟萃分析
Int J Environ Res Public Health. 2017 Nov 13;14(11):1377. doi: 10.3390/ijerph14111377.
7
Association of a PAI-1 Gene Polymorphism and Early Life Infections with Asthma Risk, Exacerbations, and Reduced Lung Function.纤溶酶原激活物抑制剂-1（PAI-1）基因多态性及早期感染与哮喘风险、病情加重和肺功能降低的关联
PLoS One. 2016 Aug 24;11(8):e0157848. doi: 10.1371/journal.pone.0157848. eCollection 2016.
8
Novel genetic risk factors for asthma in African American children: Precision Medicine and the SAGE II Study.非裔美国儿童哮喘的新型遗传风险因素：精准医学与SAGE II研究。
Immunogenetics. 2016 Jul;68(6-7):391-400. doi: 10.1007/s00251-016-0914-1. Epub 2016 May 3.
9
Association of PAEs with Precocious Puberty in Children: A Systematic Review and Meta-Analysis.邻苯二甲酸酯与儿童性早熟的关联：一项系统评价和Meta分析
Int J Environ Res Public Health. 2015 Dec 1;12(12):15254-68. doi: 10.3390/ijerph121214974.
10
Mutations in the filaggrin gene and food allergy.丝聚合蛋白基因的突变与食物过敏。
Prz Gastroenterol. 2014;9(4):200-7. doi: 10.5114/pg.2014.45100. Epub 2014 Sep 16.
本文引用的文献
1
Searching for disease-susceptibility loci by testing for Hardy-Weinberg disequilibrium in a gene bank of affected individuals.通过在患病个体基因库中检测哈迪-温伯格失衡来寻找疾病易感基因座。
Am J Epidemiol. 2003 Sep 1;158(5):397-400. doi: 10.1093/aje/kwg150.
2
Novel case-control test in a founder population identifies P-selectin as an atopy-susceptibility locus.在一个奠基者群体中进行的新型病例对照试验确定P选择素是一个特应性易感基因座。
Am J Hum Genet. 2003 Sep;73(3):612-26. doi: 10.1086/378208. Epub 2003 Aug 15.
3
TLR4 gene variants modify endotoxin effects on asthma.Toll样受体4（TLR4）基因变异可改变内毒素对哮喘的影响。
J Allergy Clin Immunol. 2003 Aug;112(2):323-30. doi: 10.1067/mai.2003.1648.
4
Association of Eotaxin gene family with asthma and serum total IgE.嗜酸性粒细胞趋化因子基因家族与哮喘及血清总免疫球蛋白E的关联
Hum Mol Genet. 2003 Jun 1;12(11):1279-85. doi: 10.1093/hmg/ddg142.
5
Allelic association and functional studies of promoter polymorphism in the leukotriene C4 synthase gene (LTC4S) in asthma.哮喘中白三烯C4合成酶基因（LTC4S）启动子多态性的等位基因关联及功能研究
Thorax. 2003 May;58(5):417-24. doi: 10.1136/thorax.58.5.417.
6
Evidence for gene-environment interactions in a linkage study of asthma and smoking exposure.哮喘与吸烟暴露连锁研究中基因-环境相互作用的证据。
J Allergy Clin Immunol. 2003 Apr;111(4):840-6. doi: 10.1067/mai.2003.170.
7
Association between polymorphisms in caspase recruitment domain containing protein 15 and allergy in two German populations.含半胱天冬酶募集结构域蛋白15基因多态性与两个德国人群过敏反应之间的关联
J Allergy Clin Immunol. 2003 Apr;111(4):813-7. doi: 10.1067/mai.2003.1336.
8
HLA associations with occupational sensitization to rat lipocalin allergens: a model for other animal allergies?人类白细胞抗原与对大鼠脂质运载蛋白过敏原的职业性致敏的关联：其他动物过敏的一种模型？
J Allergy Clin Immunol. 2003 Apr;111(4):795-9. doi: 10.1067/mai.2003.176.
9
Linkage disequilibrium patterns of the human genome across populations.人类基因组在不同人群中的连锁不平衡模式。
Hum Mol Genet. 2003 Apr 1;12(7):771-6. doi: 10.1093/hmg/ddg088.
10
Sequence variation in the promoter region of the cholinergic receptor muscarinic 3 gene and asthma and atopy.胆碱能受体毒蕈碱3基因启动子区域的序列变异与哮喘和特应性
J Allergy Clin Immunol. 2003 Mar;111(3):527-32. doi: 10.1067/mai.2003.71.
Zotero 插件