In a first publication, a novel single nucleotide polymorphism (SNP) in the NCF1 gene was identified, resulting in a reduced function of the ROS-producing NADPH oxidase in neutrophils. The low-ROS-genotype was strongly associated with SLE, and within the SLE group patients withlow-ROS-genotype were diagnosed with SLE at a younger age. A total of 972 SLE patients, collected at four Swedish research centers, and 1016 healthy controls were genotyped in this study.
In a second manuscript (submitted for publication), an in-depth analysis of the effect of NCF1 genotype on several aspects of SLE was performed including neutrophil extracellular traps (NETs), serum interferon levels, autoantibody profiles and the presence of secondary antiphospholipid syndrome (APS).
The conclusion was that SLE patients with low-ROS-genotype have neutrophils with decreased ability to release NETs, higher serum IFN levels and presence of antiphospholipid antibodies. The low-ROS-genotype was also strongly associated with secondary APS.