A single nucleotide polymorphism in the NCF1 gene leading to reduced oxidative burst is associated with systemic lupus erythematosus

• Published in: Annals of the rheumatic diseases Vol. 76; no. 9; pp. 1607 - 1613
• Main Authors: Olsson, Lina M, Johansson, Åsa C, Gullstrand, Birgitta, Jönsen, Andreas, Saevarsdottir, Saedis, Rönnblom, Lars, Leonard, Dag, Wetterö, Jonas, Sjöwall, Christopher, Svenungsson, Elisabet, Gunnarsson, Iva, Bengtsson, Anders A, Holmdahl, Rikard
• Format: Journal Article
• Language: English
• Published: England Elsevier Limited 01.09.2017
• Subjects: Adult; Alleles; Animal models; Autoimmune diseases; autoimmunity; Case-Control Studies; Clinical Medicine; Disease; Female; Gene Expression; Gene Expression Regulation; Gene polymorphism; Genetic Predisposition to Disease; Genomes; Genotype & phenotype; Genotyping; Humans; Inflammatory diseases; Interferon; Klinisk medicin; Leukocytes (neutrophilic); Lupus; Lupus Erythematosus, Systemic - genetics; Lupus Erythematosus, Systemic - immunology; Lupus Erythematosus, Systemic - metabolism; Lymphocytes; Male; Medical and Health Sciences; Medicin och hälsovetenskap; Mutation; NADPH oxidase complex; NADPH Oxidases - genetics; NCF1; Neutrophils; Neutrophils - immunology; Polymerase chain reaction; Polymorphism, Single Nucleotide; Reactive oxygen species; Reactive Oxygen Species - metabolism; Respiratory Burst - genetics; Rheumatoid arthritis; Rheumatology; Single-nucleotide polymorphism; SLE; Studies; Sweden; Systemic lupus erythematosus; White People - genetics; Sweden; NADPH oxidase complex; NCF1; autoimmunity; SLE; reactive oxygen species

Objectives Ncf1 polymorphisms leading to low production of reactive oxygen species (ROS) are strongly associated with autoimmune diseases in animal models. The human NCF1 gene is very complex with both functional and non-functional gene copies and genotyping requires assays specific for functional N...