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Year : 2013  |  Volume : 138  |  Issue : 6  |  Page : 922-927

Association between P478S polymorphism of the filaggrin gene & atopic dermatitis

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

Correspondence Address:
Jae-Young Um
Department of Pharmacology, College of Korean Medicine, Kyung Hee University, 1 Heogi-dong, Dongdaemun-gu, Seoul, 130-701
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Source of Support: None, Conflict of Interest: None

PMID: 24521637

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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.

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