Tumour necrosis factor haplotypes and asthma
Tumour necrosis factor haplotypes and asthma
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DOI：
10.1093/hmg/6.4.551
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发表时间：
1997-04-01
影响因子：
3.5
通讯作者：
Cookson, WOCM
中科院分区：
文献类型：
--
作者：
Moffatt, MF;Cookson, WOCM
气道炎症是哮喘的一个显著特征。促炎细胞因子肿瘤坏死因子（tumor Necrosis Factor）的分泌水平存在结构性差异，这与TNF基因复合体及其周围MHC的多态性有关。在本研究中，来自普通人群样本的88个核心家庭的413名受试者进行了与哮喘和TNF多态性的相关性研究，92名受试者根据问卷调查确定为哮喘。LT α - Ncol多态性等位基因1 （LT α - Ncol*1）和TNF-308多态性等位基因2 (TNF-308*2) （p = 0.004）的哮喘发生率显著高于LT α - Ncol多态性等位基因1 （p = 0.005）和TNF-308多态性等位基因2 (p = 0.004)，这种关联仅限于LT α - Ncol*1/TNF308*2单倍型，因此无法区分LT α - Ncol和TNF-308等位基因的作用。HLA-DR基因座被排除在这种关联的原因之外，结果表明遗传对炎症的影响可能在哮喘的发病机制中起重要作用。
Airway inflammation is a prominent feature of asthma. The pro-inflammatory cytokine Tumour Necrosis Factor shows constitutional variation in its level of secretion, which is linked to polymorphisms within the TNF gene complex and the surrounding MHC, In this study, 413 subjects in 88 nuclear families from a general population sample were examined for association with asthma and TNF polymorphisms, Ninety-two subjects were asthmatic, as defined by questionnaire, Asthma was significantly more common in subjects with allele 1 of the LT alpha Ncol polymorphism (LT alpha Ncol*1) (p = 0.005), and allele 2 of the TNF-308 polymorphism (TNF-308*2) (p = 0.004), The association was confined to the LT alpha Ncol*1/TNF308*2 haplotype, so that it was not possible to differentiate between the effects of LT alpha Ncol and TNF-308 alleles. The HLA-DR locus was excluded as a cause of this association, The results suggest that genetic influences on inflammation may be important in the pathogenesis of asthma.