Beygo Jasmin, Parwez Qumar, Petrasch-Parwez Elisabeth, Epplen Jörg T, Hoffjan Sabine
Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.
Mol Cell Probes. 2009 Feb;23(1):16-9. doi: 10.1016/j.mcp.2008.10.002. Epub 2008 Oct 26.
Atopic dermatitis (AD) is a chronic inflammatory skin disease which affects up to 10-15% of the human population in industrialized countries. A complex interaction of genetic and environmental factors is suggested to be involved in the pathogenesis of this disease. Activation of the innate immune system via toll-like receptors (TLRs) might play a role in this respect. Interleukin-1 receptor associated kinase M (IRAK-M) negatively regulates TLR signalling and inflammation. Recently, the IRAK-M gene was identified to confer linkage to asthma on chromosome 12q13-24 in a Sardinian population, and variation within the IRAK-M gene was associated with early-onset persistent asthma in Sardinian and Italian cohorts. In order to evaluate the possible role of polymorphisms in the IRAK-M gene in the pathogenesis of AD, we investigated six single nucleotide polymorphisms (SNPs) in this gene in a German AD case-control study. Unrelated AD patients (n=361) and healthy controls (n=325) were studied genetically using PCR-coupled methods. Analysis of single SNPs and haplotypes did not reveal a significant association between polymorphisms in the IRAK-M gene and AD in this cohort.
特应性皮炎(AD)是一种慢性炎症性皮肤病,在工业化国家中影响着高达10%至15%的人群。遗传因素和环境因素之间的复杂相互作用被认为与该疾病的发病机制有关。通过Toll样受体(TLR)激活先天免疫系统可能在这方面发挥作用。白细胞介素-1受体相关激酶M(IRAK-M)对TLR信号传导和炎症起负调节作用。最近,在撒丁岛人群中发现IRAK-M基因与12号染色体q13-24上的哮喘存在连锁关系,并且IRAK-M基因内的变异与撒丁岛和意大利队列中的早发性持续性哮喘相关。为了评估IRAK-M基因多态性在AD发病机制中的可能作用,我们在一项德国AD病例对照研究中调查了该基因中的六个单核苷酸多态性(SNP)。使用PCR耦合方法对无关的AD患者(n = 361)和健康对照(n = 325)进行基因研究。对单个SNP和单倍型的分析未发现该队列中IRAK-M基因多态性与AD之间存在显著关联。