rs1569723

A genome-wide association study of 83 plasma proteins relevant to cardiovascular disease in 3,394 European subjects identified 79 genome-wide significant loci (p<5e-8), with 55 replicating in independent cohorts (n=2,639). Using eQTL analysis and network methods, the authors proposed plausible causal mechanisms for 25 trans-acting loci including post-translational regulation of KITLG by MMP9 and several receptor-ligand pairs. Multiple loci showed evidence of causal association with coronary artery disease risk.

This extended UK genome-wide association study identified a novel rheumatoid arthritis susceptibility locus at 22q12 (rs1043099, P = 6.9 × 10⁻⁹, OR = 0.84) in 3,034 cases and 5,271 controls, and confirmed 16 previously known RA loci, strengthening evidence for genetic contributors to RA in the UK population.

This association study examined whether six genetic variants identified in RA susceptibility studies also influence radiographic joint destruction severity. In ACPA-positive RA patients, rs4810485 in CD40 showed significant association with increased radiographic progression rate (1.12x greater annual Sharp score increase per risk allele, P=0.003), which was independently replicated in the NARAC cohort (P=0.021). This represents the first non-HLA-related genetic severity factor for RA progression that has been replicated across independent cohorts.