To date, the genes associated with susceptibility to Atopic Eczema (AE) are mainly implicated in immunity, inflammation, andmaintenance of skin barrier. Little is known about the possible relationship between genesmodulating Extra-CellularMatrix (ECM)and AE etiopathogenesis. In this regard, the primary objective of the present study has been the investigation of susceptibilitybiomarkers localized within genes encoding collagen proteins. Several studies have shown that polymorphisms within the genesencoding such proteins may generate abnormal connective tissues, making them more susceptible to mechanical stress, loss ofepidermal integrity, and aging.We therefore decided to investigate three polymorphisms located inCOL6A5,COL8A1, andCOL10A1as potential susceptibility biomarkers for AE in a cohort of 1470 subjects of Mediterranean origin. The genes of interest havebeen selected considering that the ECM and immune/inflammatory response are strongly dysregulated in AE and other complexdisorders. The study confirmed that the susceptibility to AE depends on a complex interaction between latitude, geographicallocalization, and the differential distribution of genetic variants among populations exposed to similar environmental factors.
Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations
Milano, Filippo
;
2019-01-01
Abstract
To date, the genes associated with susceptibility to Atopic Eczema (AE) are mainly implicated in immunity, inflammation, andmaintenance of skin barrier. Little is known about the possible relationship between genesmodulating Extra-CellularMatrix (ECM)and AE etiopathogenesis. In this regard, the primary objective of the present study has been the investigation of susceptibilitybiomarkers localized within genes encoding collagen proteins. Several studies have shown that polymorphisms within the genesencoding such proteins may generate abnormal connective tissues, making them more susceptible to mechanical stress, loss ofepidermal integrity, and aging.We therefore decided to investigate three polymorphisms located inCOL6A5,COL8A1, andCOL10A1as potential susceptibility biomarkers for AE in a cohort of 1470 subjects of Mediterranean origin. The genes of interest havebeen selected considering that the ECM and immune/inflammatory response are strongly dysregulated in AE and other complexdisorders. The study confirmed that the susceptibility to AE depends on a complex interaction between latitude, geographicallocalization, and the differential distribution of genetic variants among populations exposed to similar environmental factors.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
