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  1. Article

    Open Access

    Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis

    Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. We investigated the association of C4 CN with systemic sclerosis (SSc) risk. Imputed tot...

    Martin Kerick, Marialbert Acosta-Herrera, Carmen Pilar Simeón-Aznar in npj Genomic Medicine (2022)

  2. Article

    Open Access

    Genetic polymorphisms of IL17A associated with Chagas disease: results from a meta-analysis in Latin American populations

    Genetic factors and the immunologic response have been suggested to determine the susceptibility against the infection and the outcome of Chagas disease. In the present study, we analysed three IL17A genetic vari...

    Mariana Strauss, Miriam Palma-Vega, Desiré Casares-Marfil in Scientific Reports (2020)

  3. Article

    Open Access

    GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

    Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previou...

    Elena López-Isac, Marialbert Acosta-Herrera, Martin Kerick in Nature Communications (2019)

  4. Article

    Correction to: Towards a Better Classification and Novel Therapies Based on the Genetics of Systemic Sclerosis

    The original version of this article unfortunately contained a mistake. The legend of Fig. 1 was incorrect.

    Marialbert Acosta-Herrera, Elena López-Isac, Javier Martín in Current Rheumatology Reports (2019)

  5. No Access

    Article

    Towards a Better Classification and Novel Therapies Based on the Genetics of Systemic Sclerosis

    Nowadays, important advances have occurred in our understanding of the pathogenesis of systemic sclerosis (SSc), which is a rare immune-mediated inflammatory disease (IMID) characterized by vascular damage, im...

    Marialbert Acosta-Herrera, Elena López-Isac, Javier Martín in Current Rheumatology Reports (2019)

  6. No Access

    Article

    Polymorphisms in CEP68 gene associated with risk of immediate selective reactions to non-steroidal anti-inflammatory drugs

    Non-steroidal anti-inflammatory drugs (NSAIDs) are the main triggers of drug hypersensitivity reactions. Such reactions can be pharmacologically or immunologically mediated, but in both cases individual suscep...

    James R. Perkins, Marialbert Acosta-Herrera in The Pharmacogenomics Journal (2019)

  7. No Access

    Chapter

    Systemic Sclerosis

    Systemic sclerosis (SSc) is a complex autoimmune disease (AD) characterized by vascular damage, immune imbalance, and fibrosis of the skin and internal organs. The disease represents one of the autoimmune rheu...

    Elena López-Isac, Marialbert Acosta-Herrera in Genetics of Rare Autoimmune Diseases (2019)

  8. Article

    Open Access

    A vascular endothelial growth factor receptor gene variant is associated with susceptibility to acute respiratory distress syndrome

    The acute respiratory distress syndrome (ARDS) is one of the main causes of mortality in adults admitted to intensive care units. Previous studies have demonstrated the existence of genetic variants involved i...

    Natalia Hernandez-Pacheco, Beatriz Guillen-Guio in Intensive Care Medicine Experimental (2018)

  9. Article

    Open Access

    Common variants of NFE2L2 gene predisposes to acute respiratory distress syndrome in patients with severe sepsis

    The purpose of this study was to investigate whether common variants across the nuclear factor erythroid 2-like 2 (NFE2L2) gene contribute to the development of the acute respiratory distress syndrome (ARDS) in p...

    Marialbert Acosta-Herrera, Maria Pino-Yanes, Jesús Blanco in Critical Care (2015)