000			nab a22 7a 4500
999			_c17856 _d17856
003			PC17856
005			20240528130821.0
008			240528b xxu||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_9891 _aVanaclocha Sebastián, Francisco _eDermatología Médico Quirúrgica y Venereología
245	0	0	_aGenome-Wide Pathway Analysis Identifies Genetic Pathways Associated with Psoriasis. _h[artículo]
260			_bThe Journal of investigative dermatology, _c2016
300			_a136(3):593-602.
500			_aFormato Vancouver: Aterido A, Julià A, Ferrándiz C, Puig L, Fonseca E, Fernández López E et al. Genome-Wide Pathway Analysis Identifies Genetic Pathways Associated with Psoriasis. J Invest Dermatol. 2016 Mar;136(3):593-602.
501			_aPMID: 26743605
504			_aContiene 70 referencias
520			_aPsoriasis 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 < 0.05). These findings provide insights into the biological mechanisms associated with psoriasis susceptibility.
710			_9145 _aServicio de Dermatología Médico-Quirúrgica y Venereología
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/1/pc17856.pdf _ySolicitar documento
942			_2ddc _cART _n0