Atopic eczema: Genetic analysis of COL6A5, COL8A1, and COL10A1 in mediterranean populations
| Autor: | Doaa I. Hashad, Nagat Sobhy, Giulietta Minozzi, Claudia Strafella, Giuseppe Novelli, Raffaella Cascella, Valerio Caputo, Efstratios Vakirlis, Emiliano Giardina, Rania Abdelmaksood, Mauro Arcangeli, Filippo Milano |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Skin barrier Article Subject lcsh:Medicine Inflammation Collagen Type VI Collagen Type VIII Biology Polymorphism Single Nucleotide Genetic analysis General Biochemistry Genetics and Molecular Biology Dermatitis Atopic 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Immune system Immunity medicine Humans Genetic Predisposition to Disease Gene Genetics General Immunology and Microbiology Mediterranean Region lcsh:R Genetic variants Case-control study General Medicine 030104 developmental biology Settore MED/03 - Genetica Medica Case-Control Studies medicine.symptom Research Article Collagen Type X |
| Zdroj: | BioMed Research International BioMed Research International, Vol 2019 (2019) |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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