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Open AccessComplement 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...
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Article
Open AccessGenetic 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...
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Article
Open AccessGWAS 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...
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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.
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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...
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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...
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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...
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Article
Open AccessA 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...
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Article
Open AccessCommon 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...