Atopic eczema: Genetic analysis of COL6A5, COL8A1, and COL10A1 in mediterranean populations

Claudia Strafella, Valerio Caputo, Giulietta Minozzi, Filippo Milano, Mauro Arcangeli, Nagat Sobhy, Rania Abdelmaksood, Doaa Hashad, Efstratios Vakirlis, Giuseppe Novelli, Raffaella Cascella, Emiliano Giardina

Research output: Contribution to journalArticle

Abstract

To date, the genes associated with susceptibility to Atopic Eczema (AE) are mainly implicated in immunity, inflammation, and maintenance of skin barrier. Little is known about the possible relationship between genes modulating Extra-Cellular Matrix (ECM) and AE etiopathogenesis. In this regard, the primary objective of the present study has been the investigation of susceptibility biomarkers localized within genes encoding collagen proteins. Several studies have shown that polymorphisms within the genes encoding such proteins may generate abnormal connective tissues, making them more susceptible to mechanical stress, loss of epidermal integrity, and aging. We therefore decided to investigate three polymorphisms located in COL6A5, COL8A1, and COL10A1 as potential susceptibility biomarkers for AE in a cohort of 1470 subjects of Mediterranean origin. The genes of interest have been selected considering that the ECM and immune/inflammatory response are strongly dysregulated in AE and other complex disorders. The study confirmed that the susceptibility to AE depends on a complex interaction between latitude, geographical localization, and the differential distribution of genetic variants among populations exposed to similar environmental factors.

Original languageEnglish
Article number3457898
JournalBioMed Research International
Volume2019
DOIs
Publication statusPublished - Jan 1 2019

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Atopic Dermatitis
Gene encoding
Genes
Population
Biomarkers
Polymorphism
Mechanical Stress
Connective Tissue
Immunity
Skin
Proteins
Collagen
Aging of materials
Maintenance
Tissue
Inflammation

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)

Cite this

Atopic eczema : Genetic analysis of COL6A5, COL8A1, and COL10A1 in mediterranean populations. / Strafella, Claudia; Caputo, Valerio; Minozzi, Giulietta; Milano, Filippo; Arcangeli, Mauro; Sobhy, Nagat; Abdelmaksood, Rania; Hashad, Doaa; Vakirlis, Efstratios; Novelli, Giuseppe; Cascella, Raffaella; Giardina, Emiliano.

In: BioMed Research International, Vol. 2019, 3457898, 01.01.2019.

Research output: Contribution to journalArticle

Strafella, C, Caputo, V, Minozzi, G, Milano, F, Arcangeli, M, Sobhy, N, Abdelmaksood, R, Hashad, D, Vakirlis, E, Novelli, G, Cascella, R & Giardina, E 2019, 'Atopic eczema: Genetic analysis of COL6A5, COL8A1, and COL10A1 in mediterranean populations', BioMed Research International, vol. 2019, 3457898. https://doi.org/10.1155/2019/3457898
Strafella, Claudia ; Caputo, Valerio ; Minozzi, Giulietta ; Milano, Filippo ; Arcangeli, Mauro ; Sobhy, Nagat ; Abdelmaksood, Rania ; Hashad, Doaa ; Vakirlis, Efstratios ; Novelli, Giuseppe ; Cascella, Raffaella ; Giardina, Emiliano. / Atopic eczema : Genetic analysis of COL6A5, COL8A1, and COL10A1 in mediterranean populations. In: BioMed Research International. 2019 ; Vol. 2019.
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