rs8192916
This is a upstream gene variant variant in the GZMB gene.
▶Research that mentions this SNP (1)
▶A genetic variant in granzyme B is associated with progression of joint destruction in rheumatoid arthritisAssociationN=1,418Knevel R. et al.(2013)· Arthritis & Rheumatism
This association study of 1,418 RA patients across 4 European cohorts identified rs8192916 (located in GZMB) as significantly associated with the rate of joint destruction in rheumatoid arthritis (relative rate 1.05 per year, P = 7.8 × 10⁻⁴). Expression QTL analysis demonstrated that the minor allele of rs8192916 was correlated with higher GZMB expression in whole blood (P = 2.27 × 10⁻⁵).
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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