rs8192917

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).

A candidate gene association study in 100 Russian vitiligo patients and 100 controls identified a strong novel association between GSTP1 rs1138272 (Ala114Val, OR=13.03, Bonferroni-adjusted P=0.0015) and vitiligo susceptibility. Cumulative analysis of multiple xenobiotic metabolizing genes showed that carrying higher numbers of risk alleles was associated with increased vitiligo risk (9-16 vs 3-8 alleles: OR=2.79, P=0.00063), supporting a polygenic model for vitiligo involving detoxification pathway genes.

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.