原標(biāo)題：完全哮喘緩解的新基因與見(jiàn)解：臨川和完全哮喘緩解的全基因組關(guān)聯(lián)研究
　　① 全基因組協(xié)會(huì)（GWA）的研究已經(jīng)明確與哮喘發(fā)生相關(guān)的基因，但是沒(méi)有研究哮喘緩解；② 臨床緩解（ClinR）的定義是，最近一年中沒(méi)有哮喘治療和喘息，最近3年內(nèi)無(wú)哮喘發(fā)作，完全緩解（ComR）在臨床緩解的條件基礎(chǔ)上，還必須保持正常肺功能和無(wú)支氣管高反應(yīng)性（BHR）；③ 評(píng)估了2個(gè)獨(dú)立群體(總n = 456)中25個(gè)頂端單核苷酸多態(tài)性(SNPs)的復(fù)制情況，然后對(duì)肺組織和上皮細(xì)胞中4個(gè)復(fù)制的SNP進(jìn)行定量位點(diǎn)表達(dá)(eQTL)分析；④ 本研究確定了3個(gè)與完全哮喘緩解相關(guān)的SNP，其中2個(gè)SNP與FRS2、CCT、IL1RL1、IL18R1和IL13有生物學(xué)相關(guān)性；⑤ 本研究三個(gè)相關(guān)SNP分別為rs7240102、rs6581895和rs1420101。


　　延伸閱讀


Clinical & Experimental Allergy
Novel genes and insights in complete asthma remission: A genome-wide association study on clinical and complete asthma remission
DOI: 10.1111/cea.13181
Abstract:
Background: Asthma is a chronic respiratory disease without a cure,although there exists spontaneous remission.Genome-wide association (GWA) studies have pinpointed genes associated with asthma development, but did not investigate asthma remission.
Methods: Clinical remission (ClinR) was defined by the absence of asthma treatment and wheezing in the last year and asthma attacks in the last 3 years and complete remission (ComR) similarly but additionally with normal lung function and absence of bronchial hyperres -ponsiveness (BHR). A GWA study on both ClinR and ComR was performed in 790 asthmatics with initial doctor diagnosis of asthma and BHR and long-term follow-up. We assessed replication of the 25 top single nucleotide polymorphisms (SNPs) in 2 independent cohorts (total n = 456), followed by expression quantitative loci (eQTL) analyses of the 4 replicated SNPs in lung tissue and epithelium.
Results: Of the 790 asthmatics, 178 (23%) had ClinR and 55 ComR (7%) after median follow-up of 15.5 (range 3.3-47.8) years. In ClinR, 1 of the 25 SNPs, rs2740102,replicated in a meta-analysis of the replication cohorts, which was an eQTL for POLI in lung tissue. In ComR, 3 SNPs replicated in a meta-analysis of the replication cohorts. The top-hit, rs6581895, almost reached genome-wide significance (P-value 4.68 9 107) and was an eQTL for FRS2 and CCT in lung tissue. Rs1420101 was a cis-eQTL in lung tissue for IL1RL1 and IL18R1 and a trans-eQTL for IL13.
Conclusions: By defining a strict remission phenotype, we identified 3 SNPs to be associated with complete asthma remission, where 2 SNPs have plausible biological relevance in FRS2, CCT, IL1RL1, IL18R1 and IL13.
First Author:
J. M. Vonk
Correspondence:
Department of Epidemiology, University Medical Center Groningen, University of Groningen,Groningen, The Netherlands
Conclusions
We describe the architecture of the evolution of IgE responses to multiple allergen components throughout childhood, which may facilitate development of better diagnostic and prognostic biomarkers for allergic diseases.
All Authors:
J. M. Vonk, M. A. E. Nieuwenhuis, F. N. Dijk, A. Boudier, V. Siroux, E. Bouzigon, N. Probst-Hensch, M. Imboden, D. Keidel, D. Sin, Y. Bosse, K. Hao, M. van den Berge, A. Faiz, G. H. Koppelman, D. S. Postma
　　創(chuàng)建過(guò)敏性疾病的科研、科普知識(shí)交流平臺(tái)，為過(guò)敏患者提供專(zhuān)業(yè)診斷、治療、預(yù)防的共享平臺(tái)。