Rheumatology & Autoimmunity

This study identifies novel LPIN2 mutations in Majeed syndrome that induce NF-κB pathway activation, linking defective LPIN2 function to aberrant inflammation in this rare autoinflammatory disorder.

Roles of mitochondrial dynamic imbalance in autoimmune diseases. The imbalance of mitochondrial fusion and fission is involved in the occurrence and development of autoimmune diseases, including systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, multiple sclerosis, myasthenia gravis, type 1 diabetes, psoriasis, and autoimmune hepatitis.

OAS1 is an interferon-induced gene that has been reported to be associated with the susceptibility of some infectious diseases, but there is little data on OAS1 single nucleotide polymorphism (SNP) associated with Systemic lupus erythematosus (SLE). In this study, we evaluated the association of OAS1 rs1051042 polymorphism with the genetic susceptibility and clinical phenotypes of SLE. Our results revealed patients with CG and GG genotypes were more susceptible to SLE. The genotype CG, GG, and allele G were associated with increased genetic susceptibility of SLE. OAS1 rs1051042 polymorphism was associated with clinical manifestations of SLE including malar rash, lupus nephritis, and anti-dsDNA antibodies. The expression levels of OAS1 were more significantly increased in genotype GG than in genotype CC and CG. Our results indicate polymorphism of OAS1 rs1051042 was associated with the genetic susceptibility and specific clinical phenotypes of SLE in the Chinese population.