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首页> 外文期刊>Allergy >Evidence for an asthma risk locus on chromosome Xp: a replication linkage study.
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Evidence for an asthma risk locus on chromosome Xp: a replication linkage study.

机译：Xp染色体上有哮喘危险基因座的证据：一项复制连锁研究。

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BACKGROUND: Asthma is a complex genetic disorder characterized by chronic inflammation in the airways. Identification of genetic risk factors for asthma has been complicated due to genetic heterogeneity and influence from environmental risk factors. Despite the fact that multiple genetic linkage studies have been carried out the results are still conflicting and call for replication experiments. A Danish genome-wide scan has prior reported evidence for candidate regions for asthma susceptibility genes on chromosomes 1p, 5q, 6p, 12q and Xp. Linkage to chromosome 12q was later confirmed in the same replication sample as used in the present study. The aim of the study was to replicate linkage to candidate regions for asthma in an independent Danish sample. METHODS: We performed a replication study investigating linkage to candidate regions for asthma on chromosomes 1p36.31-p36.21, 5q15-q23.2, 6p24.3-p22.3, and Xp22.31-p11.4 using additional markers in an independent set of 136 Danish asthmatic sib pair families. RESULTS: Nonparametric multipoint linkage analyses yielded suggestive evidence for linkage to asthma to chromosome Xp21.2 (MLS 2.92) but failed to replicate linkage to chromosomes 1p36.31-p36.21, 5q15-q23.2 and 6p24.3-p22.3. CONCLUSIONS: The replication results provide evidence for chromosome Xp21 to harbour a susceptibility gene for asthma in the Danish population. To our knowledge, the study is the first to replicate evidence for linkage to chromosome X. A susceptibility gene for asthma on chromosome X could potentially explain observed gender differences in asthma prevalence.
机译：背景：哮喘是一种复杂的遗传性疾病，其特征是气道慢性炎症。由于遗传异质性和环境风险因素的影响，哮喘遗传风险因素的识别变得复杂。尽管已经进行了多个遗传连锁研究，但结果仍然矛盾，需要进行复制实验。丹麦全基因组扫描先前已报道了1p，5q，6p，12q和Xp染色体上哮喘易感基因候选区域的证据。后来在与本研究相同的复制样品中证实了与12q染色体的连锁。该研究的目的是在独立的丹麦样本中复制与候选哮喘区域的联系。方法：我们进行了一项复制研究，调查了与哮喘候选区域在染色体1p36.31-p36.21、5q15-q23.2、6p24.3-p22.3和Xp22.31-p11.4上的连锁关系，使用了其他标记一个独立的136个丹麦哮喘同胞对家庭。结果：非参数多点连锁分析为哮喘与Xp21.2染色体（MLS 2.92）的连锁反应提供了提示性证据，但未能复制与1p36.31-p36.21、5q15-q23.2和6p24.3-p22.3染色体的连锁关系。 。结论：复制结果为染色体Xp21提供了丹麦人群哮喘易感基因的证据。据我们所知，该研究是第一个复制与X染色体连锁的证据的研究。X染色体上哮喘的易感基因可能解释了哮喘患病率中观察到的性别差异。

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