Hoffjan Sabine, Stemmler Susanne, Parwez Qumar, Petrasch-Parwez Elisabeth, Arinir Umut, Rohde Gernot, Reinitz-Rademacher Karin, Schultze-Werninghaus Gerhard, Bufe Albrecht, Epplen Jörg T
Department of Human Genetics, Ruhr-University Bochum, Germany.
BMC Med Genet. 2005 Sep 28;6:34. doi: 10.1186/1471-2350-6-34.
For allergic disorders, the increasing prevalence over the past decade has been attributed in part to the lack of microbial burden in developed countries ('hygiene hypothesis'). Variation in genes encoding toll-like receptors (TLRs) as the receptor system for the first innate immune response to microbial stimuli has been implicated in various inflammatory diseases. We evaluated here the role of a coding variation, Ser249Pro, in the TLR6 gene in the pathogenesis of asthma, atopic dermatitis (AD) and chronic obstructive pulmonary disease (COPD).
Genotyping of the Ser249Pro polymorphism in 68 unrelated adult patients and 132 unrelated children with asthma, 185 unrelated patients with COPD, 295 unrelated individuals with AD and 212 healthy control subjects was performed by restriction enzyme digestion.
We found a weak association of the 249Ser allele with childhood asthma (p = 0.03). Yet, significance was lost after Bonferroni correction. No association was evident for AD or COPD.
Variation in TLR6 might play a role in the pathogenesis of childhood asthma.
对于过敏性疾病，过去十年患病率的上升部分归因于发达国家微生物负荷的缺乏（“卫生假说”）。作为对微生物刺激的首个固有免疫反应的受体系统，编码Toll样受体（TLR）的基因变异与多种炎症性疾病有关。我们在此评估TLR6基因中的编码变异Ser249Pro在哮喘、特应性皮炎（AD）和慢性阻塞性肺疾病（COPD）发病机制中的作用。
通过限制性酶切对68例无亲缘关系的成年哮喘患者、132例无亲缘关系的儿童哮喘患者、185例无亲缘关系的COPD患者、295例无亲缘关系的AD患者和212例健康对照者进行Ser249Pro多态性基因分型。
我们发现249Ser等位基因与儿童哮喘存在弱关联（p = 0.03）。然而，经Bonferroni校正后，显著性消失。AD或COPD未发现明显关联。
TLR6变异可能在儿童哮喘发病机制中起作用。
