000			nab a22 7a 4500
999			_c16726 _d16726
003			PC16726
005			20220217133356.0
008			220217b xxu||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_9891 _aVanaclocha Sebastián, Francisco _eDermatología Médico Quirúrgica y Venereología
245	0	0	_aA deletion at ADAMTS9-MAGI1 locus is associated with psoriatic arthritis risk. _h[artículo]
260			_bAnnals of the rheumatic diseases, _c2015
300			_a74(10):1875-81.
500			_aFormato Vancouver: Julià A, Pinto JA, Gratacós J, Queiró R, Ferrándiz C, Fonseca E et al. A deletion at ADAMTS9-MAGI1 locus is associated with psoriatic arthritis risk. Ann Rheum Dis. 2015 Oct;74(10):1875-81.
501			_aPMID: 25990289
504			_aContiene 44 referencias
520			_aObjective: Copy number variants (CNVs) have been associated with the risk to develop multiple autoimmune diseases. Our objective was to identify CNVs associated with the risk to develop psoriatic arthritis (PsA) using a genome-wide analysis approach. Methods: A total of 835 patients with PsA and 1498 healthy controls were genotyped for CNVs using the Illumina HumanHap610 BeadChip genotyping platform. Genomic CNVs were characterised using CNstream analysis software and analysed for association using the χ(2) test. The most significant genomic CNV associations with PsA risk were independently tested in a validation sample of 1133 patients with PsA and 1831 healthy controls. In order to test for the specificity of the variants with PsA aetiology, we also analysed the association to a cohort of 822 patients with purely cutaneous psoriasis (PsC). Results: A total of 165 common CNVs were identified in the genome-wide analysis. We found a highly significant association of an intergenic deletion between ADAMTS9 and MAGI1 genes on chromosome 3p14.1 (p=0.00014). Using the independent patient and control cohort, we validated the association between ADAMTS9-MAGI1 deletion and PsA risk (p=0.032). Using next-generation sequencing, we characterised the 26 kb associated deletion. Finally, analysing the PsC cohort we found a lower frequency of the deletion compared with the PsA cohort (p=0.0088) and a similar frequency to that of healthy controls (p>0.3). Conclusions: The present genome-wide scan for CNVs associated with PsA risk has identified a new deletion associated with disease risk and which is also differential from PsC risk.
710			_9145 _aServicio de Dermatología Médico-Quirúrgica y Venereología
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/1/pc16726.pdf _ySolicitar documento
942			_2ddc _cART _n0