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Clinical features of children with atopic dermatitis according to filaggrin gene variants
Ziaali Arghavan1, Sharifi Laleh2, Teimourian Shahram3
1Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Insights
Filaggrin gene (FLG) variants were linked to patient age and early-onset atopic dermatitis (AD) in Iranian children. Further research is needed to confirm these findings in a larger population.
Area of Science:
- Genetics and Dermatology
- Molecular Biology
- Epidemiology
Background:
- Filaggrin (FLG) is crucial for epidermal barrier function.
- FLG gene mutations are implicated in 50% of atopic dermatitis (AD) cases.
- Investigating FLG polymorphisms in Iranian children with AD is important.
Purpose of the Study:
- To investigate filaggrin (FLG) gene polymorphisms and mutations in Iranian children with atopic dermatitis (AD).
- To explore potential associations between FLG variants and clinical characteristics of AD.
Main Methods:
- A case-controlled study involving 25 children with AD and 25 healthy controls.
- Collection of demographic data, clinical manifestations, and FLG single nucleotide polymorphisms (SNPs).
- Blood samples analyzed for IgE levels and complete blood count.
Main Results:
- A significant association was found between FLG polymorphism (rs66831674) and patient age.
- FLG polymorphism (rs41267154) was associated with the early onset of AD.
- No significant differences in FLG polymorphisms were observed regarding AD severity, ethnicity, concurrent allergies, eosinophilia, or IgE levels.
Conclusions:
- FLG variants rs66831674 and rs41267154 show associations with age and early-onset AD.
- Larger-scale studies in the Iranian population are required to validate these findings.
- Prospective cohort studies are recommended to assess the progression of atopic disorders based on FLG polymorphisms.
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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