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Title: Genome-Wide Pathway Analysis Identifies Genetic Pathways Associated with Psoriasis.
Authors: Aterido, Adrià
Julià, Antonio
Ferrándiz, Carlos
Puig, Lluís
Fonseca, Eduardo
Fernández-López, Emilia
Dauden, Esteban
Sánchez-Carazo, José Luís
López-Estebaranz, José Luís
Moreno-Ramírez, David
Vanaclocha, Francisco
Herrera, Enrique
de la Cueva, Pablo
Dand, Nick
Palau, Núria
Alonso, Arnald
López-Lasanta, María
Tortosa, Raül
García-Montero, Andrés
Codó, Laia
Gelpí, Josep Lluís
Bertranpetit, Jaume
Absher, Devin
Capon, Francesca
Myers, Richard M
Barker, Jonathan N
Marsal, Sara
metadata.dc.subject.mesh: Adult
Case-Control Studies
Genetic Predisposition to Disease
Genetic Variation
Genome-Wide Association Study
Middle Aged
Polymorphism, Single Nucleotide
Reference Values
Risk Assessment
Issue Date: 29-Dec-2015
Abstract: Psoriasis is a chronic inflammatory disease with a complex genetic architecture. To date, the psoriasis heritability is only partially explained. However, there is increasing evidence that the missing heritability in psoriasis could be explained by multiple genetic variants of low effect size from common genetic pathways. The objective of this study was to identify new genetic variation associated with psoriasis risk at the pathway level. We genotyped 598,258 single nucleotide polymorphisms in a discovery cohort of 2,281 case-control individuals from Spain. We performed a genome-wide pathway analysis using 1,053 reference biological pathways. A total of 14 genetic pathways (PFDR ≤ 2.55 × 10(-2)) were found to be significantly associated with psoriasis risk. Using an independent validation cohort of 7,353 individuals from the UK, a total of 6 genetic pathways were significantly replicated (PFDR ≤ 3.46 × 10(-2)). We found genetic pathways that had not been previously associated with psoriasis risk such as retinol metabolism (Pcombined = 1.84 × 10(-4)), the transport of inorganic ions and amino acids (Pcombined = 1.57 × 10(-7)), and post-translational protein modification (Pcombined = 1.57 × 10(-7)). In the latter pathway, MGAT5 showed a strong network centrality, and its association with psoriasis risk was further validated in an additional case-control cohort of 3,429 individuals (P
metadata.dc.identifier.doi: 10.1016/j.jid.2015.11.026
Appears in Collections:Producción 2020

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