• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

捷克人群中 17q21 基因座与成人哮喘的关系。

Relationship between the 17q21 locus and adult asthma in a Czech population.

机构信息

Department of Pathophysiology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.

出版信息

Hum Immunol. 2011 Oct;72(10):921-5. doi: 10.1016/j.humimm.2011.07.309. Epub 2011 Aug 1.

DOI:10.1016/j.humimm.2011.07.309
PMID:21843571
Abstract

Several whole-genome association studies have shown a significant link between childhood asthma and the 17q12 chromosome region. We selected tagging single nucleotide polymorphisms (SNPs) in the ORMDL3 gene (17q12) to investigate gene variability in relation to adult allergic asthma and asthma/atopy traits in a Czech Caucasian population of adults. We conducted a case-control association study comprising 668 unrelated subjects (337 asthmatic and 331 control subjects). Four selected SNPs (rs17608925, rs12603332, rs8076131, and rs3169572) were genotyped using the TaqMan SNP Genotyping Assays. The single locus analysis showed only a borderline association between rs3169572 variant and asthma (p = 0.030, p(corr) > 0.05). However, seven different haplotypes were identified; among them, the TTAA haplotype was marginally associated with asthma (p = 0.045, p(corr) > 0.05) and TCAG haplotype was significantly associated with asthma in males (p = 0.009, p(corr) < 0.05, odds ratio = 1.48, 95% confidence interval = 1.10-2.00). In addition, associations between the ORMDL3 genotypes and the total IgE level (p = 0.05, p(corr) > 0.05) and hypersensitivity to the pollen (p = 0.007, p(corr) < 0.05) were established. However, no relationship between ORMDL3 SNPs and the pulmonary functions was found (p > 0.05). These findings suggest that the genetic variability in the 17q21 region may be one of the risk factors also for adult asthma, especially in male individuals.

摘要

几项全基因组关联研究表明,儿童哮喘与 17q12 染色体区域之间存在显著关联。我们选择了 ORMDL3 基因(17q12)中的标签单核苷酸多态性(SNP),以调查捷克白种人群中与成人过敏性哮喘和哮喘/过敏特征相关的基因变异性。我们进行了一项病例对照关联研究,包括 668 名无关个体(337 名哮喘患者和 331 名对照者)。使用 TaqMan SNP 基因分型检测对 4 个选定的 SNP(rs17608925、rs12603332、rs8076131 和 rs3169572)进行了基因分型。单基因座分析显示,rs3169572 变异与哮喘之间只有边缘关联(p=0.030,p(corr)>0.05)。然而,鉴定出了 7 种不同的单倍型;其中,TTAA 单倍型与哮喘呈边缘关联(p=0.045,p(corr)>0.05),TCAG 单倍型与男性哮喘显著相关(p=0.009,p(corr)<0.05,优势比=1.48,95%置信区间=1.10-2.00)。此外,还发现 ORMDL3 基因型与总 IgE 水平(p=0.05,p(corr)>0.05)和花粉过敏(p=0.007,p(corr)<0.05)之间存在关联。然而,未发现 ORMDL3 SNP 与肺功能之间存在关系(p>0.05)。这些发现表明,17q21 区域的遗传变异性可能也是成人哮喘的危险因素之一,特别是在男性个体中。

相似文献

1
Relationship between the 17q21 locus and adult asthma in a Czech population.捷克人群中 17q21 基因座与成人哮喘的关系。
Hum Immunol. 2011 Oct;72(10):921-5. doi: 10.1016/j.humimm.2011.07.309. Epub 2011 Aug 1.
2
Functional variants of 17q12-21 are associated with allergic asthma but not allergic rhinitis.17q12-21 上的功能变体与过敏性哮喘有关,但与过敏性鼻炎无关。
J Allergy Clin Immunol. 2016 Mar;137(3):758-66.e3. doi: 10.1016/j.jaci.2015.08.038. Epub 2015 Oct 23.
3
Asthma and atopy are associated with chromosome 17q21 markers in Chinese children.在中国儿童中,哮喘和特应性与17号染色体q21区域的标记物相关。
Allergy. 2009 Apr;64(4):621-8. doi: 10.1111/j.1398-9995.2008.01873.x. Epub 2009 Jan 27.
4
Genetic variants of 17q21 are associated with childhood-onset asthma and related phenotypes in a northeastern Han Chinese population: a case-control study.17q21基因变异与中国东北汉族人群儿童期哮喘及相关表型相关:一项病例对照研究。
Tissue Antigens. 2014 May;83(5):330-6. doi: 10.1111/tan.12342. Epub 2014 Mar 21.
5
Polymorphisms related to ORMDL3 are associated with asthma susceptibility, alterations in transcriptional regulation of ORMDL3, and changes in TH2 cytokine levels.与 ORMDL3 相关的多态性与哮喘易感性、ORMDL3 转录调控的改变以及 TH2 细胞因子水平的变化有关。
J Allergy Clin Immunol. 2015 Oct;136(4):893-903.e14. doi: 10.1016/j.jaci.2015.03.014. Epub 2015 Apr 28.
6
Expression quantitative trait locus fine mapping of the 17q12-21 asthma locus in African American children: a genetic association and gene expression study.17q12-21 哮喘基因座在非裔美国儿童中的表达数量性状基因座精细定位:一项遗传关联和基因表达研究。
Lancet Respir Med. 2020 May;8(5):482-492. doi: 10.1016/S2213-2600(20)30011-4.
7
Polymorphisms and haplotypes of the chromosome locus 17q12-17q21.1 contribute to adult asthma susceptibility in Slovenian patients.染色体位点17q12 - 17q21.1的多态性和单倍型与斯洛文尼亚患者的成人哮喘易感性有关。
Hum Immunol. 2016 Jun;77(6):527-34. doi: 10.1016/j.humimm.2016.05.003. Epub 2016 May 6.
8
17q12-21 variants are associated with asthma and interact with active smoking in an adult population from the United Kingdom.17q12-21 变异与哮喘有关,并与英国成年人群中的主动吸烟相互作用。
Ann Allergy Asthma Immunol. 2012 Jun;108(6):402-411.e9. doi: 10.1016/j.anai.2012.03.002. Epub 2012 Apr 11.
9
Variants in the 17q21 asthma susceptibility locus are associated with allergic rhinitis in the Japanese population.17q21 哮喘易感位点的变异与日本人群的变应性鼻炎有关。
Allergy. 2013 Jan;68(1):92-100. doi: 10.1111/all.12066. Epub 2012 Nov 12.
10
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.

引用本文的文献

1
Sex differences in asthma: omics evidence and future directions.哮喘中的性别差异:组学证据与未来方向。
Front Genet. 2025 Mar 5;16:1560276. doi: 10.3389/fgene.2025.1560276. eCollection 2025.
2
Single-base editing of rs12603332 on chromosome 17q21 with a cytosine base editor regulates ORMDL3 and ATF6α expression.利用胞嘧啶碱基编辑器对 17q21 上的 rs12603332 进行单碱基编辑可调节 ORMDL3 和 ATF6α 的表达。
Allergy. 2022 Apr;77(4):1139-1149. doi: 10.1111/all.15092. Epub 2021 Sep 24.
3
Loss of the zona pellucida-binding protein 2 (Zpbp2) gene in mice impacts airway hypersensitivity and lung lipid metabolism in a sex-dependent fashion.
小鼠中透明带结合蛋白2(Zpbp2)基因的缺失以性别依赖的方式影响气道高反应性和肺脂质代谢。
Mamm Genome. 2018 Apr;29(3-4):281-298. doi: 10.1007/s00335-018-9743-x. Epub 2018 Mar 13.
4
ORMDL3 is associated with airway remodeling in asthma via the ERK/MMP-9 pathway.ORMDL3通过ERK/MMP-9信号通路与哮喘气道重塑相关。
Mol Med Rep. 2017 May;15(5):2969-2976. doi: 10.3892/mmr.2017.6413. Epub 2017 Mar 30.
5
Association between ORMDL3 polymorphism and susceptibility to asthma: a meta-analysis.ORMDL3基因多态性与哮喘易感性的关联:一项荟萃分析。
Int J Clin Exp Med. 2015 Mar 15;8(3):3173-83. eCollection 2015.
6
The Association of GSDMB and ORMDL3 Gene Polymorphisms With Asthma: A Meta-Analysis.GSDMB和ORMDL3基因多态性与哮喘的关联:一项荟萃分析
Allergy Asthma Immunol Res. 2015 Mar;7(2):175-85. doi: 10.4168/aair.2015.7.2.175. Epub 2014 Dec 18.
7
Polymorphisms in recent GWA identified asthma genes CA10, SGK493, and CTNNA3 are associated with disease severity and treatment response in childhood asthma.最近全基因组关联研究发现哮喘基因 CA10、SGK493 和 CTNNA3 的多态性与儿童哮喘的疾病严重程度和治疗反应有关。
Immunogenetics. 2014 Mar;66(3):143-51. doi: 10.1007/s00251-013-0755-0. Epub 2014 Jan 10.
8
ORMDL3 promotes eosinophil trafficking and activation via regulation of integrins and CD48.ORMDL3 通过调节整合素和 CD48 促进嗜酸性粒细胞的迁移和激活。
Nat Commun. 2013;4:2479. doi: 10.1038/ncomms3479.
9
Sex- and age-dependent DNA methylation at the 17q12-q21 locus associated with childhood asthma.与儿童哮喘相关的 17q12-q21 位点的性别和年龄依赖性 DNA 甲基化。
Hum Genet. 2013 Jul;132(7):811-22. doi: 10.1007/s00439-013-1298-z. Epub 2013 Apr 2.