rs10947262

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.

A case-control association study examining two TNFα gene polymorphisms (rs1800629 and rs361525) and osteoarthritis susceptibility in a Han Chinese population. The rs1800629 -308A allele showed a 1.96-fold increased risk for OA (95% CI=1.33-2.89, p<0.001), while rs361525 showed no significant association.

Candidate gene study of 4 SNPs in Russian population replicating GWAS-significant variants associated with stage 4 knee osteoarthritis. The A allele of rs6499244 in NFAT5 was identified as a risk factor for knee osteoarthritis in additive (OR=1.61, p=0.02) and recessive (OR=2.07, p=0.02) models. Functional analysis shows rs6499244 is located in DNase-hypersensitive regions and enhancers, associated with expression of 9 genes including NFAT5 itself.

This genome-wide meta-analysis of sciatica in Finnish populations (291 cases, 3,671 controls in discovery; 776 cases, 18,489 controls in replication) identified five novel variants at two loci associated with sciatica at genome-wide significance. The strongest association was a single-base insertion rs71321981 (chr9:14344410:I) in the NFIB gene at 9p22.3 (p = 1.30×10⁻⁸, MAF = 0.08), which replicated in an independent Finnish sample (p = 0.04). Four additional variants at 15q21.2 in the MYO5A gene showed genome-wide significance (p = 1.34×10⁻⁸ to 4.78×10⁻⁸) but failed replication.