Conflict of interest The authors have declared that they have no conflict of interest.
Mutations analysis in filaggrin gene in northern China patients with atopic dermatitis
Article first published online: 5 JAN 2012
© 2012 The Authors. Journal of the European Academy of Dermatology and Venereology © 2012 European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology
Volume 27, Issue 2, pages 169–174, February 2013
How to Cite
Li, M., Liu, Q., Liu, J., Cheng, R., Zhang, H., Xue, H., Bao, Y. and Yao, Z. (2013), Mutations analysis in filaggrin gene in northern China patients with atopic dermatitis. Journal of the European Academy of Dermatology and Venereology, 27: 169–174. doi: 10.1111/j.1468-3083.2011.04435.x
Funding source This study was funded by a grant from Science and Technology Commission of Shanghai Municipality (08JC1415900) and a grant from National Nature Science Foundation of China (81171544).
- Issue published online: 22 JAN 2013
- Article first published online: 5 JAN 2012
- Received: 6 September 2011; Accepted: 14 December 2011
Background Recently, we have reported filaggrin mutations (FLG) of atopic dermatitis in southern China. However, there have been few detailed reports of FLG mutations of patients with AD in northern China by now.
Objectives The present aim was to establish the mutation spectrum of FLG gene in AD patients in northern China.
Methods A total of 339 cases met Hanifin and Rajka diagnostic criteria of AD were recruited. A comprehensive sequencing of the entire FLG coding region in these patients was conducted. All detected FLG null mutations were screened in a cohort of 301 normal controls.
Results Seven novel mutations (478insA, Q1070X, 4026delT, Q1712X, Q2397X, 7145del4 and 8001del4) and eleven reported mutations (3222del4, 3321delA, 4271delAA, S1515X, Q1790X, 5757del4, 6834del5, Q2417X, E2422X, 7945delA and K4671X) in AD were identified. Mutations 3321delA and K4671X were two of the most common mutations in AD. FLG null mutations were present in 26.0% of AD patients. FLG null alleles (compound genotypes) were significantly higher in AD (P < 0.001) than in the controls. The compound genotypes for all FLG variants were significantly associated with IV (P < 0.001) and palmar hyperlinearity (P < 0.001). The common mutation, K4671X, was significantly associated with AD-coexistent allergic rhinitis (P = 0.005).
Conclusions Our study increases the total number of FLG mutations. We clearly demonstrated that FLG loss-of-function mutations were significantly associated with AD in northern China. The FLG null mutations in the Chinese population differed not only from that in the European population but also from that in sub-populations of Asians outside of the Chinese mainland.