哮喘及其严重度的评分揭示了新的基因关联位点
2008/02/05
如何定义哮喘来促进人们对哮喘潜在机制的理解，一直存在争议。Bouzigon等对110个哮喘家 族进行基因组连锁扫描，以建立量化哮喘及其严重度的评分系统，并评价哮喘表型评估是否有助于识别染色体上潜在的易感基因。
这110个哮喘家族均来自哮喘、支气管高反应性和特应性的遗传和环境流行病学调查（Epidemiological study on the Genetics and Environment of Asthma, bronchial hyperresponsiveness and atopy，EGEA），每个家族至少有2个哮喘同胞。表型评估包括哮喘严重度分析和哮喘评分方面。而哮喘严重度分析分为哮喘严重度评分（根据临床资料和治疗，分为1～4分）和FEV1两部分。哮喘评分是对整个疾病谱的评分，包括非哮喘患者（0分）和哮喘患者（根据严重度分为1～4分）。
统计显示，与哮喘评分最相关的基因组位点是18p11，这是一个新的关联位点。而2p23则与哮喘严重度评分有关，还有三个位置（1p36、2q36和6q14）可能与FEV1有关。而且FEV1似乎与哮喘严重度和哮喘评分间没有共同的遗传特征。
作者认为，通过哮喘及其严重度的量化研究可以揭示一些新关联位点，这进一步支持在未来基因研究中重视表型研究。
（韩伟 青岛大学附属青岛市立医院呼吸科 266071 摘译）
（Eur Respir J 2007; 30: 260–268）
Scores of asthma and asthma severity reveal new regions of linkage in EGEA study families
E. Bouzigon*,#, V. Siroux", M-H. Dizier+,1, A. Lemainquee, C. Pison**,##, M. Lathrope, F. Kauffmann1,##, F. Demenais* and I. Pin#
ABSTRACT: There is ongoing debate as to how asthma should be defined in order to forward understanding of the underlying mechanisms. The aim of the present study was to build quantitative scores of asthma and asthma severity and to assess whether refinement of disease phenotypes can facilitate the identification of chromosomal regions harbouring susceptibility genes.
A genome-wide linkage scan was conducted in 110 families with at least two asthmatic siblings (n5508) from the French Epidemiological study on the Genetics and Environment of Asthma, bronchial hyperresponsiveness and atopy (EGEA). The phenotypes studied were an asthma severity score (assessed among asthmatics by combining clinical data and treatment), forced expiratory volume in one second (FEV1) and an asthma score (including both asthmatics and nonasthmatics and representing the whole disease spectrum).
This analysis showed genome-wide suggestive evidence of linkage of the asthma score to 18p11, a novel region undetected in a previous screen of dichotomous asthma. There was potential linkage of 2p23 to asthma severity score and of three regions (1p36, 2q36 and 6q14) to FEV1. Moreover, FEV1 appeared to have no genetic determinant in common with asthma severity and asthma scores.
Asthma and asthma severity quantitative scores revealed new regions of linkage and thus
provide support for considering these phenotypes in future genetic studies
Bouzigon E., Siroux V., Dizier M-H., et al. Eur Respir J 2007; 30: 260–268
上一篇：
哮喘的缓解：一项北欧的纵向研究（RHINE研究）
下一篇：
超重、肥胖对哮喘发病风险的影响
