Irvine Alan D, McLean W H Irwin
Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
J Invest Dermatol. 2006 Jun;126(6):1200-2. doi: 10.1038/sj.jid.5700365.
We have recently shown that loss-of-function mutations in the filaggrin gene, carried by about 10% of people of European ethnicity, cause ichthyosis vulgaris and are strong predisposing factors for atopic dermatitis and asthma secondary to atopic dermatitis. These results demonstrate a prominent role for the epidermal barrier in atopic disease and have important implications for the study of complex traits.
我们最近发现，约10%的欧洲裔人群携带的丝聚合蛋白基因功能丧失突变会导致寻常型鱼鳞病，并且是特应性皮炎及继发于特应性皮炎的哮喘的重要诱发因素。这些结果表明表皮屏障在特应性疾病中起重要作用，对复杂性状的研究具有重要意义。
