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哮喘易感性和严重程度的遗传学。

Genetics of asthma susceptibility and severity.

机构信息

Center for Genomics and Personalized Medicine, Wake Forest School of Medicine, Medical Center Boulevard, Winston-Salem, NC 27157, USA.

出版信息

Clin Chest Med. 2012 Sep;33(3):431-43. doi: 10.1016/j.ccm.2012.05.005. Epub 2012 Jul 7.

DOI:10.1016/j.ccm.2012.05.005
PMID:22929093
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3431509/
Abstract

This article summarizes major findings in genome-wide studies of asthma susceptibility and severity. Two large meta-analyses identified four chromosomal regions which were consistently associated with development of asthma. Genes that are associated with asthma subphenotypes such as lung function, biomarker levels, and asthma therapeutic responses can provide insight into mechanisms of asthma severity and disease progression. Future genetic studies will incorporate sequencing in comprehensively phenotyped asthmatics to lead to the development of personalized therapy.

摘要

本文总结了哮喘易感性和严重程度的全基因组研究的主要发现。两项大型荟萃分析确定了四个与哮喘发生一致相关的染色体区域。与哮喘亚表型(如肺功能、生物标志物水平和哮喘治疗反应)相关的基因可深入了解哮喘严重程度和疾病进展的机制。未来的遗传研究将结合全面表型哮喘患者的测序,以开发个性化治疗。

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本文引用的文献

1
The IL6R variation Asp(358)Ala is a potential modifier of lung function in subjects with asthma.IL6R 变异体 Asp(358)Ala 是哮喘患者肺功能的潜在修饰因子。
J Allergy Clin Immunol. 2012 Aug;130(2):510-5.e1. doi: 10.1016/j.jaci.2012.03.018. Epub 2012 May 1.
2
IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti-IL-4 receptor α antagonist.白细胞介素-4 受体多态性可预测抗白细胞介素-4 受体 α 拮抗剂治疗后哮喘恶化的减少。
J Allergy Clin Immunol. 2012 Aug;130(2):516-22.e4. doi: 10.1016/j.jaci.2012.03.030. Epub 2012 Apr 26.
3
A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.弗雷明汉心脏研究中全基因组关联研究血浆总 IgE 浓度。
J Allergy Clin Immunol. 2012 Mar;129(3):840-845.e21. doi: 10.1016/j.jaci.2011.09.029. Epub 2011 Nov 9.
4
The C11orf30-LRRC32 region is associated with total serum IgE levels in asthmatic patients.C11orf30-LRRC32区域与哮喘患者的血清总IgE水平相关。
J Allergy Clin Immunol. 2012 Feb;129(2):575-8, 578.e1-9. doi: 10.1016/j.jaci.2011.09.040. Epub 2011 Nov 8.
5
Genome-wide association study reveals class I MHC-restricted T cell-associated molecule gene (CRTAM) variants interact with vitamin D levels to affect asthma exacerbations.全基因组关联研究揭示了 I 类主要组织相容性复合物限制性 T 细胞相关分子基因 (CRTAM) 变体与维生素 D 水平相互作用,影响哮喘加重。
J Allergy Clin Immunol. 2012 Feb;129(2):368-73, 373.e1-5. doi: 10.1016/j.jaci.2011.09.034. Epub 2011 Nov 1.
6
Gene-by-environment effect of house dust mite on purinergic receptor P2Y12 (P2RY12) and lung function in children with asthma.尘螨对嘌呤能受体 P2Y12(P2RY12)与哮喘患儿肺功能的基因-环境效应。
Clin Exp Allergy. 2012 Feb;42(2):229-37. doi: 10.1111/j.1365-2222.2011.03874.x.
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Genomewide association between GLCCI1 and response to glucocorticoid therapy in asthma.GLCCI1 基因与哮喘患者糖皮质激素治疗反应的全基因组关联研究。
N Engl J Med. 2011 Sep 29;365(13):1173-83. doi: 10.1056/NEJMoa0911353. Epub 2011 Sep 26.
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Association of genetic variants in chromosome 17q21 and adult-onset asthma in a Chinese Han population.染色体 17q21 上的遗传变异与中国汉族人群成年起病型哮喘的相关性。
BMC Med Genet. 2011 Oct 11;12:133. doi: 10.1186/1471-2350-12-133.
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Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.全基因组关联和大规模随访研究确定了 16 个新的影响肺功能的基因座。
Nat Genet. 2011 Sep 25;43(11):1082-90. doi: 10.1038/ng.941.
10
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.鉴定出 IL6R 和染色体 11q13.5 是哮喘的风险基因座。
Lancet. 2011 Sep 10;378(9795):1006-14. doi: 10.1016/S0140-6736(11)60874-X.