| 000 | na a22 4500 | ||
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| 999 |
_c3703 _d3703 |
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| 003 | PC3703 | ||
| 005 | 20191202120505.0 | ||
| 008 | 130622s2013 xxx||||| |||| 00| 0 eng d | ||
| 040 | _cH12O | ||
| 041 | _aeng | ||
| 100 |
_aCarreira Delgado, Patricia Esmeralda _9467 _eReumatología |
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| 245 | 0 | 2 |
_aA systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. _h[artículo] |
| 260 |
_c2013 _bHuman Molecular Genetics, |
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| 300 | _a22(19):4021-9. | ||
| 500 | _aFormato Vancouver: Martín JE, Assassi S, Díaz-Gallo LM, Broen JC, Simeón CP, Castellvi I, et al; Spanish Scleroderma Group; SLEGEN consortium; U.S. Scleroderma GWAS group; BIOLUPUS. A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. Hum Mol Genet. 2013 Oct 1;22(19):4021-9. | ||
| 501 | _aPMID: 23740937 | ||
| 504 | _aContiene 43 referencias | ||
| 520 | _aSystemic sclerosis (SSc) and systemic lupus erythematosus (SLE) are two archetypal systemic autoimmune diseases which have been shown to share multiple genetic susceptibility loci. In order to gain insight into the genetic basis of these diseases, we performed a pan-meta-analysis of two genome-wide association studies (GWASs) together with a replication stage including additional SSc and SLE cohorts. This increased the sample size to a total of 21 109 (6835 cases and 14 274 controls). We selected for replication 19 SNPs from the GWAS data. We were able to validate KIAA0319L (P = 3.31 x 10(-11), OR = 1.49) as novel susceptibility loci for SSc and SLE. Furthermore, we also determined that the previously described SLE susceptibility loci PXK (P = 3.27 x 10(-11), OR = 1.20) and JAZF1 (P = 1.11 x 10(-8), OR = 1.13) are shared with SSc. Supporting these new discoveries, we observed that KIAA0319L was overexpressed in peripheral blood cells of SSc and SLE patients compared with healthy controls. With these, we add three (KIAA0319L, PXK and JAZF1) and one (KIAA0319L) new susceptibility loci for SSc and SLE, respectively, increasing significantly the knowledge of the genetic basis of autoimmunity. | ||
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_9123 _aServicio de Reumatología |
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| 856 |
_uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766185/ _yAcceso librre |
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| 942 |
_n0 _2ddc _cART |
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