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Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry.
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In: Molecular psychiatry, vol 25, iss 10 (2020)
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Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry.
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In: Molecular psychiatry, vol 25, iss 10 (2020)
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Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.
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In: Human molecular genetics, vol 27, iss 24 (2018)
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Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
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In: Nature genetics, vol 50, iss 7 (2018)
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GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.
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In: Molecular psychiatry, vol 22, iss 3 (2017)
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A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci
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Abstract:
Systemic 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 × 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 × 10-11, OR = 1.20) and JAZF1 (P = 1.11 × 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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Keyword:
Case-Control Studies; Genetic Loci; Genetic Predisposition to Disease; Genetic Variation; Genetics; Genetics (clinical); Genome-Wide Association Study; Humans; Intracellular Signaling Peptides and Proteins; Lupus Erythematosus; Molecular Biology; Neoplasm Proteins; Nerve Tissue Proteins; Nuclear Proteins; Polymorphism; Protein-Serine-Threonine Kinases; Reproducibility of Results; Risk Factors; Scleroderma; Settore MED/16 - Reumatologia; Single Nucleotide; Systemic
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URL: http://hdl.handle.net/2434/258640
https://doi.org/10.1093/hmg/ddt248
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Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
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In: PLoS genetics, vol 7, iss 7 (2011)
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Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; ORA review team (2004)
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