rs34907394
This variant is located in the DNASE1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶DNase1 exon2 analysis in Tunisian patients with rheumatoid arthritis, systemic lupus erythematosus and Sjögren syndrome and healthy subjectsAssociationN=472Salima Belguith-Maalej et al.(2009)· Rheumatology International
A case-control study of 240 Tunisian patients with rheumatoid arthritis (n=151), systemic lupus erythematosus (n=34), and Sjögren syndrome (n=55), plus 232 healthy controls, examining DNASE1 exon 2 for genetic associations with autoimmune diseases. Two previously reported mutations (K5X and 46_72del) were absent in this population. The rs8176927 (R2S, Arg158Ser) polymorphism showed no significant association with any of the three conditions (RA: P=0.78, SS: P=0.18, SLE: P=0.53).
About DNASE1
This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
View all DNASE1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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