Association between P478S polymorphism of the filaggrin gene & atopic dermatitis.

Abstract

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 μg 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.

• Authors: Seon-Young Kim, Sung Wan Yang, Hye-Lin Kim, Sung-Hoon Kim, Seong Joon Kim, Sun-Min Park, Musong Son, Sahyun Ryu, Young-Seok Pyo, Jae-Seok Lee, Kyu Seok Kim, Yoon Bum Kim, Seung-Heon Hong, Jae-Young Um
• Journal: The Indian journal of medical research (Indian J Med Res) Vol. 138 Issue 6 Pg. 922-7 (Dec 2013) ISSN: 0971-5916 [Print] India
• PMID: 24521637 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• FLG protein, human
• Filaggrin Proteins
• Intermediate Filament Proteins

Topics

• Adult
• Asthma (genetics, pathology)
• Child, Preschool
• Dermatitis, Atopic (genetics, pathology)
• Female
• Filaggrin Proteins
• Genetic Association Studies
• Genetic Predisposition to Disease
• Heterozygote
• Humans
• Intermediate Filament Proteins (blood, genetics)
• Korea
• Male
• Middle Aged
• Polymorphism, Single Nucleotide
• Rhinitis, Allergic (genetics, pathology)