Genome screen in the French EGEA study:: detection of linked regions shared or not shared by allergic rhinitis and asthma

Genome screen in the French EGEA study:: detection of linked regions shared or not shared by allergic rhinitis and asthma
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DOI:
10.1038/sj.gene.6364163
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发表时间:
2005-03-01
期刊:
影响因子:
5
通讯作者:
Annesi-Maesano, I
Annesi-Maesano, I
中科院分区:
医学3区
文献类型:
--
作者:
Dizier, MH;Bouzigon, E;Annesi-Maesano, I

文献摘要

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在至少有一名哮喘受试者的 295 个法国 EGEA 家庭样本中,进行了基因组筛选,以确定过敏性鼻炎 (AR) 或哮喘特异性的潜在连锁区域以及这两种疾病共有的连锁区域。考虑基于(1)诊断(AR(bin1))和(2)症状(AR(bin2))和分类有序特征(AR(cat))的两种二元鼻炎表型。哮喘表型基于标准化调查问卷的答案以及支气管高反应性的存在。使用最大似然二项式(MLB)方法进行连锁分析。这些分析为整个样本中三个区域的联系提供了潜在的证据:1p31 代表 AR(bin2) 加哮喘定义的表型 (P = 0.00016),2q32 代表 AR(bin2) (P = 0.00016),3p24-p14 代表 AR(cat) (P = 0.001)。在最多有一名哮喘同胞的 185 个家庭的子集中检测到另外两个区域:AR(bin1) 的 9p22 和 9q22-q34(P 分别 = 0.001 和 0.0007)。没有任何区域显示出与哮喘相关的证据而不与 AR 相关。虽然 1p31 可能含有哮喘和 AR 常见的遗传决定因素,但 2q32、3p24-p14、9p22 和 9q22-q34 更有可能含有 AR 特有的遗传因素。
In the sample of 295 French EGEA families with at least one asthmatic subject, a genome screen was conducted to identify potential linkage regions specific either to allergic rhinitis (AR) or to asthma as well as those shared by the two diseases. Two binary rhinitis phenotypes based on (1) diagnosis (AR(bin1)) and (2) symptoms (AR(bin2)) and a categorical ordered trait (AR(cat)) were considered. Asthma phenotype was based on answers to a standardized questionnaire plus the presence of bronchial hyper-responsiveness. Linkage analyses were conducted using the maximum likelihood binomial (MLB) method. These analyses provided potential evidence for linkage to three regions in the whole sample: 1p31 for the phenotype defined by AR(bin2) plus asthma (P = 0.00016), 2q32 for AR(bin2) (P = 0.00016) and 3p24-p14 for AR(cat) (P = 0.001). Two other regions were detected in the subset of 185 families with at most one asthmatic sib: 9p22 and 9q22-q34 for AR(bin1) (P = 0.001 and 0.0007, respectively). No region showed evidence for linkage to asthma without being also linked to AR. While 1p31 may contain a genetic determinant common to asthma and AR, 2q32, 3p24-p14, 9p22 and 9q22-q34 are more likely to harbor genetic factors specific to AR.