Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis

• DOI: 10.1111/j.1398-9995.2010.02493.x
• Publication Date: 2010-10-08T16:17:38Z
• Authors: H. Zhang; Y. Guo; W. Wang; M. Shi; X. Chen; Z. Yao
• Keywords: Ichthyosis vulgaris

Recently, loss-of-function mutations in the filaggrin gene (FLG) have been identified as cause of ichthyosis vulgaris (IV) and also predisposing factors for atopic dermatitis (AD) AD-associated phenotypes. Until now, over thirty FLG patients with IV AD, but mutation spectrum is not clear Chinese Han AD. This study aimed to investigate role AD phenotypes a population.We carried out comprehensive sequencing entire coding region 261 patients.In our research, we ten novel (R826X, 3222del4, R1140X, 4271delAA, Q1790X, 5757del4, 6834del5, 6950del8, S2706X K4671X) eight reported (441delA, R501X, 3321delA, R1474X, Q2417X, E2422X, 7945delA R4306X) FLG. were present 31.4% patients. Mutations 3321delA K4671X, frequency 14.6% 9.2%, respectively, two most common this cohort. null alleles (compound genotypes) significantly associated (P < 0.001) food sensitization = 0.012). However, did observe positive association between other phenotypes, including asthma, allergic rhinitis elevated total serum IgE level.Our increases number mutations. Moreover, further confirm that are strong Chinese.