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

Recently, loss-of-function mutations in the filaggrin gene (FLG) have been identified as the cause of ichthyosis vulgaris (IV) and also predisposing factors for atopic dermatitis (AD) and AD-associated phenotypes. Until now, over thirty mutations in FLG have been identified in patients with IV and AD, but the FLG mutation spectrum is not clear for Chinese Han patients with AD. This study aimed to investigate the role of FLG mutations in AD and AD-associated phenotypes in a Chinese population.

We carried out a comprehensive sequencing of the entire FLG coding region in 261 Han AD patients.

In our research, we identified ten novel mutations (R826X, 3222del4, R1140X, 4271delAA, Q1790X, 5757del4, 6834del5, 6950del8, S2706X and K4671X) and eight reported mutations (441delA, R501X, 3321delA, R1474X, Q2417X, E2422X, 7945delA and R4306X) in FLG. FLG mutations were present in 31.4% of our AD patients. Mutations 3321delA and K4671X, with a frequency of 14.6% and 9.2%, respectively, were two of the most common mutations in this AD cohort. FLG null alleles (compound genotypes) were significantly associated with AD (P < 0.001) and AD associated with food sensitization (P = 0.012). However, we did not observe a positive association between FLG mutations and other AD-associated phenotypes, including asthma, allergic rhinitis and elevated total serum IgE level.

Our study increases the total number of reported FLG mutations. Moreover, we further confirm that FLG mutations are strong predisposing factors for AD in Han Chinese.