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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. Methods:? We carried out a comprehensive sequencing of the entire FLG coding region in 261 Han AD patients. Results:? 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, [http://www.selleckchem.com/products/DAPT-GSI-IX.html DAPT secretase price] 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?[http://www.selleckchem.com/Proteasome.html Proteasome structure] are strong predisposing factors for AD in Han Chinese. Atopic dermatitis (AD), also known as eczema, is a chronic relapsing skin disease and [https://en.wikipedia.org/wiki/Tolmetin Tolmetin] frequently associated with other atopic conditions, such as asthma and allergic rhinitis. Over the past decades, the prevalence of AD increased steadily in developed countries, with 15�C30% of children and 2�C10% of adults affected (1). Over 3% of preschool children in China suffered from AD. Atopic dermatitis has long been recognized as a complex trait in that interactions between genes and environmental stimuli and interplay between multiple genes contribute to disease manifestation. Until now, the exact pathogenesis of AD remains unknown. More recently, a disturbance of epidermal barrier function that culminates in dry skin seems to be one of the central aspects in the pathophysiology of AD (2, 3). In 2006, the key role of protein filaggrin within the granular cell layer in maintaining the skin barrier was determined followed by the identification of loss-of-function mutations in the gene encoding filaggrin (FLG) (4). These loss-of-function genetic variants have also been shown a major predisposing factor for AD (5). During the past few years, a strong association between the FLG mutations and AD was observed in different populations (6�C10). Filaggrin null mutations were also reported to confer significant risks of allergic sensitization and allergic rhinitis as well as asthma in the context of eczema (11, 12) and increased asthma severity in children and young adults (13).