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利用763个常染色体STR标记通过全基因组连锁不平衡图谱分析发现高IgE水平哮喘儿童与正常IgE水平哮喘儿童之间的基因差异。

Discovery of genetic difference between asthmatic children with high IgE level and normal IgE level by whole genome linkage disequilibrium mapping using 763 autosomal STR markers.

作者信息

Wang Jiu-Yao, Lin Cherry Guan-Ju, Bey Monica Shian-Jy, Wang Lingmei, Lin Felicia Yi-Fang, Huang Lichih, Wu Lawrence Shih-Hsin

机构信息

Department of Pediatrics, Institute of Molecular Medicine, College of Medicine, National Cheng-Kung University, Tainan, Taiwan.

Research Development Division, Vita Genomics Inc., 7Fl., No. 6, Sec. 1, Jungshing Rd., Taipei County, Wugu Shiang, 248, Taiwan.

出版信息

J Hum Genet. 2005;50(5):249-258. doi: 10.1007/s10038-005-0248-6. Epub 2005 May 21.

Abstract

The genome-wide linkage disequilibrium screen for loci associated with genetic difference between allergic and nonallergic asthma was conducted with 763 autosomal STR markers and included 190 asthmatic children. Evidence for association with differences between the two forms of asthma was observed for 36 STR markers. Marker-to-marker synergetic effect and by simulation resampling tests revealed D5S2011, D6S305, and D9S286 were important loci in allergic asthma while D6S1574, D8S1769, and D19S226 were important in nonallergic asthma. Our results show strong genetic evidence that these markers play an important role in defining allergic and nonallergic asthma and provides important candidates of susceptible genes in these two categories of asthma. This study further shows that asthma is, indeed, a heterogeneous group of underlying diseases and, although with similar clinical phenotypes, may have different clinical severities, outcomes, and need more tailor-made management.

摘要

利用763个常染色体STR标记对过敏性哮喘和非过敏性哮喘之间的遗传差异相关基因座进行全基因组连锁不平衡筛查,研究纳入了190名哮喘儿童。在36个STR标记中观察到与两种哮喘形式差异相关的证据。标记间协同效应及模拟重抽样检验显示,D5S2011、D6S305和D9S286是过敏性哮喘的重要基因座,而D6S1574、D8S1769和D19S226在非过敏性哮喘中起重要作用。我们的结果显示了强有力的遗传学证据,表明这些标记在区分过敏性哮喘和非过敏性哮喘中起重要作用,并为这两类哮喘提供了重要的易感基因候选者。本研究进一步表明,哮喘确实是一组潜在疾病的异质性群体,尽管具有相似的临床表型,但可能有不同的临床严重程度、转归,需要更具针对性的管理。

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