Allergy：ECP基因变异会导致气喘的发生
根据纽约路透社的报导，挪威的科学家发现嗜伊红性白血球阳离子蛋白 (eosinophil cationic protein, ECP)基因，也就是RNASE3基因，其单点核酸变异(Single Nucleotide Polymorphism; SNP)可能与气喘(asthma)以及血清嗜酸性粒细胞阳离子蛋白改变量(serum eosinophil cationic protein levels，s-ECP)有关，此研究发表于四月份的Allergy期刊。
挪威奥斯陆Ulleval综合医院的Monica Cheung Munthe-Kaas博士表示：「s-ECP是发炎反应的一个血清指标，在针对ECP基因的研究中，发现RNASE3的基因变异与气喘患者的s-ECP量的改变有关联性。」研究人员调查了来自于挪威及荷兰的177个家庭，发现在RNASE3基因中有三点单点核酸突变与气喘及s-ECP含量有密切关系，核酸的突变及其位置分别位于-38CA, +371CG以及+499CG。突变后的基因会导致过敏性气喘、s-ECP以及s-IgE升高，也会导致支气管高反应性(bronchial hyperresponsiveness，BHR)等现象。
（编译/陈瑞娟） (资料来源 : Bio.com)
原始出处:
Allergy，Volume 62 Issue 4 Page 429 - April 2007
To cite this article: M. C. Munthe-Kaas, J. Gerritsen, K. H. Carlsen, D. Undlien, T. Egeland, B. Skinningsrud, T. Tørres, K. L. Carlsen (2007)
Eosinophil cationic protein (ECP) polymorphisms and association with asthma, s-ECP levels and related phenotypes
Allergy 62 (4), 429–436.
doi:10.1111/j.1398-9995.2007.01327.x
Eosinophil cationic protein (ECP) polymorphisms and association with asthma, s-ECP levels and related phenotypes
M. C. Munthe-Kaas1,21Department of Pediatrics, Ullevål University Hospital, Oslo, Norway2Institute of Medical Genetics, Ullevål University Hospital, University of Oslo, Oslo, Norway,
1Department of Pediatrics, Ullevål University Hospital, Oslo, Norway; 2Institute of Medical Genetics, Ullevål University Hospital, University of Oslo, Oslo, Norway; 3University Medical Centre Groningen, Department of Pediatrics, University of Groningen, Groningen, The Netherlands; 4Faculty of Medicine, University of Oslo, Oslo, Norway; 5Voksentoppen, Department of Pediatrics, Rikshospitalet-Radiumhospitalet Medical Center, Oslo, Norway; 6Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway
Monica Cheng Munthe-Kaas
Department of Pediatrics
Ullevål University Hospital
N-0407 Oslo
Norway
The study was performed within ORAACLE (the Oslo Research Group of Asthma and Allergy in Childhood; the lung and environment), a member of the GA2LEN (Global Asthma and Allergy European Network).
ECP, eosinophil cationic protein; BHR, bronchial hyperresponsiveness; GATA-1, globin transcription factor-1; GAIN, Genetics of Asthma International Network; ICS, inhaled corticosteroids; NFAT, nuclear factor of activated T-cells; SNP, single-nucleotide polymorphism; SPT, skin-prick test; TDT, transmission disequilibrium test; UTR, untranslated region
Abstract
Background: Eosinophil cationic protein (ECP) is a potent cytotoxic secretory protein with bactericidal and antiviral properties. ECP is released by activated eosinophils and regarded as a marker of eosinophilic inflammation. High levels of ECP have been reported in cases of active asthma and other allergic diseases. This study aimed to assess whether three single-nucleotide polymorphisms (SNPs) in the ECP gene (RNASE3) on chromosome 14 q24–q31 or their haplotypes are associated with asthma, allergy, or related phenotypes.
Methods: The three SNPs −38CA, +371CG and +499CG in RNASE3 and their haplotypes were analyzed for associations with asthma, serum-ECP (s-ECP) levels, allergic sensitization (positive skin-prick test to common allergens), bronchial hyperresponsiveness (BHR) assessed by methacholine inhalation, and serum-IgE (s-IgE) levels in 177 families from Norway and the Netherlands identified through siblings with asthma.
Results: Transmission disequilibrium test (TDT) demonstrated significant associations between the A-G-G haplotype and asthma as well as the specific phenotypes allergic asthma (but not non-allergic asthma), high s-ECP, high s-IgE and BHR, while the C-G-G haplotype was associated with reduced occurrence of these traits. In addition, the −38A allele was associated with high s-ECP levels and allergic asthma.
Conclusion: The present study suggests that the A-G-G haplotype in the RNASE3 gene influences the development of asthma, in particular, an allergic form of asthma. Furthermore, as the −38CA SNP lies in close vicinity of known intron-regulatory sites, results of SNP analysis suggest that the detected association is possibly linked to a genetic transcriptional control of s-ECP levels.
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