rs7144366
This is a coding sequence variant variant in the GZMB gene.
▶Research that mentions this SNP (1)
▶Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic‐onset juvenile idiopathic arthritisAssociationN=3,517Rachelle Donn et al.(2008)· Arthritis & Rheumatism
This case-control association study investigated whether SNPs in genes involved in hemophagocytic lymphohistiocytosis (PRF1, GZMB, UNC13D, Rab27a) confer susceptibility to systemic-onset juvenile idiopathic arthritis. Testing 27 SNPs across these 4 genes in 133 UK Caucasian patients and 384 controls (expanded with ~3,000 additional WTCCC controls), the study found no significant associations between any SNP and systemic-onset JIA, either by single-point or haplotype analysis, concluding these genes do not contribute substantial risk to the disease.
About GZMB
This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]
View all GZMB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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