Association between P478S polymorphism of the filaggrin gene & atopic dermatitis
Seon-Young Kim1, Sung Wan Yang2, Hye-Lin Kim1, Sung-Hoon Kim1, Seong Joon Kim3, Sun-Min Park2, Musong Son2, Sahyun Ryu2, Young-Seok Pyo2, Jae-Seok Lee2, Kyu Seok Kim4, Yoon Bum Kim4, Seung-Heon Hong5, Jae-Young Um1
1 College of Korean Medicine, Institute of Korean Medicine, Kyung Hee University, Seoul, Korea
2 Atowill Immune & Skin Oriental Medicine Clinic, Hansin Living Tower, 204, 1533, Seocho-dong, Seocho-gu, Seoul, Korea
3 Division of Oriental Medical Science, Graduate School of East-West Medical Science, Kyung Hee University, Seoul, Korea
4 Department of Ophthalmology & Otolaryngology & Dermatology, College of Korean Medicine, Kyung Hee University, Seoul, Korea
5 Department of Oriental Pharmacy, College of Pharmacy, Wonkwang University, Jeonbuk, Korea
Department of Pharmacology, College of Korean Medicine, Kyung Hee University, 1 Heogi-dong, Dongdaemun-gu, Seoul, 130-701
Source of Support: None, Conflict of Interest: None
Background & objectives: Atopic diseases, including atopic dermatitis (AD), allergy and asthma, are complex diseases resulting from the effect of multiple genetic and interacting environmental factors on their pathophysiology. The genetic basis is incompletely understood; however, recent studies have shown an association between loss-of-function variants of the filaggrin gene (FLG) and atopic dermatitis. The aim of this study was to determine whether FLG variants can serve as a predictor for atopic diseases in Korean individuals.
Methods: A total of 648 subjects were genotyped for the FLG P478S (rs11584340, C/T base change) polymorphism (322 patients and 326 controls). Serum levels of free fatty acids (FFA) and IgE were later stratified to determine the effects of the FLG polymorphism on AD.
Results: A significant difference in genotype frequency was found between AD patients and controls in the FLG P478S polymorphism. The FLG P478S T allele carrier (TT+TC) was associated with AD risk (odds ratio = 1.877, 95% confidence interval 1.089 to 3.234). In addition, the P478S T allele was related to high levels of FFA in AD patients (471.79 ± 298.96 vs. 333.54 ± 175.82 ΅g eq/l, P <0.05).
Interpretation & conclusions: The results of the present study suggest that the FLG P478S polymorphism alone and combined with other factors influences FFA levels and increases the susceptibility to AD.