Clinical features of children with atopic dermatitis according to filaggrin gene variants

Arghavan Ziaali; Laleh Sharifi; Shahram Teimourian; Bita Hasani; Anna Isaian; Mansoureh Shariat

doi:10.15586/aei.v49i4.209

Arghavan Ziaali

Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Laleh Sharifi

Uro-Oncology Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Shahram Teimourian

Department of Medical Genetics, Iran University of Medical Sciences, Tehran, Iran.

Bita Hasani

Department of Medical Genetics, Iran University of Medical Sciences, Tehran, Iran.

Anna Isaian

Department of Pathology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Mansoureh Shariat

Department of Immunology and Allergy, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Keywords

atopic dermatitis, filaggrin, single nucleotide polymorphism, Iran

Abstract

Background: Filament aggregating protein (Filaggrin) is a skeletal cell component that provides a protective function for the epidermis. Mutations of the filaggrin gene (FLG) cause a loss of filaggrin protein. These mutations are seen in 50% of atopic dermatitis (AD). The aim of the study was to investigate the polymorphisms and mutations of the FLG in Iranian children with AD.

Materials and methods: This project was a case-controlled study with 25 children diagnosed with AD as the case group and 25 healthy children as the control group. Demographic data, clinical manifestations, and filaggrin single nucleotide polymorphisms (SNPs) and mutations were recorded. Blood samples were collected for the immunoglobulin E (IgE) assay and complete blood count tests.

Results: We found a significant association between the presence of polymorphism (rs66831674) and patients’ age, and polymorphism (rs41267154) and early onset of AD. We found no significant differences between the FLG polymorphisms with respect to the severity of AD, ethnicity, concurrent allergic diseases, eosinophilia, and IgE serum levels.

Conclusion: Interestingly, FLG variants (rs66831674 and rs41267154) were associated with age and early onset of AD. However, additional studies are required to confirm these results on a large scale of Iranian population. Moreover, establishing a cohort prospective study is suggested to assess the progression of other atopic disorders based on FLG polymorphisms.

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