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SNPs identified by GWAS affect asthma risk through DNA methylation and expression of cis-genes in airway epithelium
European Respiratory Journal ( IF 24.3 ) Pub Date : 2019-12-12 , DOI: 10.1183/13993003.02079-2019
Soyeon Kim 1, 2, 3 , Erick Forno 1, 2, 3 , Qi Yan 1, 2 , Yale Jiang 1, 4 , Rong Zhang 5 , Nadia Boutaoui 1, 2 , Edna Acosta-Pérez 6 , Glorisa Canino 6 , Wei Chen 1, 2, 7 , Juan C Celedón 2, 7, 8
Affiliation  

Over the past 12 years, many genome-wide association studies (GWAS) have been conducted to identify susceptibility variants for asthma [1–5]. The Trans-National Asthma Genetic Consortium (TAGC) recently conducted a large meta-analysis of GWAS [3], identifying 878 single nucleotide polymorphisms (SNPs) associated with asthma at 18 loci. The mechanisms underlying such associations are largely unknown but may include effects on gene expression that alter airway epithelial integrity and function. Many asthma-susceptibility SNPs are associated with expression of distant cis-genes in airway epithelium (AE) through DNA methylation. Over 40% of the genes whose expression in AE is associated with such SNPs are differentially expressed in atopic asthma. http://bit.ly/2L1rnIk

中文翻译:

GWAS 鉴定的 SNP 通过 DNA 甲基化和气道上皮中顺式基因的表达影响哮喘风险

在过去的 12 年中,已经开展了许多全基因组关联研究 (GWAS) 以确定哮喘的易感性变异 [1-5]。跨国哮喘遗传联盟 (TAGC) 最近对 GWAS [3] 进行了一项大型荟萃分析,在 18 个位点鉴定出与哮喘相关的 878 个单核苷酸多态性 (SNP)。这种关联的潜在机制在很大程度上是未知的,但可能包括对改变气道上皮完整性和功能的基因表达的影响。许多哮喘易感性 SNP 通过 DNA 甲基化与气道上皮 (AE) 中远距离顺式基因的表达相关。在 AE 中表达与此类 SNP 相关的基因中,超过 40% 在特应性哮喘中差异表达。http://bit.ly/2L1rnIk
更新日期:2019-12-12
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