rs3099844

This case-control study examines the association between HCP5 and PSORS1C1 genetic variants and nevirapine-induced Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN) in 27 patients and 76 controls from Mozambique. The HCP5 rs3099844 variant allele was significantly associated with SJS/TEN susceptibility (OR=2.03, P=0.039), and the TA haplotype carrying both variant alleles showed higher risk (OR=3.44, P=0.003), with evidence of gene-gene interaction between HCP5 and PSORS1C1.

Genome-wide association study of 116 children with cardiac neonatal lupus (116 cases, 3,351 controls) identified 17 significant SNPs in the HLA region at 6p21, with the strongest association at rs3099844 (OR 3.34, P=4.52×10⁻¹⁰) near the MICB gene. Non-HLA associations were found at rs743446 (21q22, OR 2.40, P=5.45×10⁻⁶), rs2403106 (12q21, OR 2.48, P=2.62×10⁻⁶), rs1391511 (10p15, OR 1.84, P=6.6×10⁻⁶), and rs1890645 (1q31, OR 2.98, P=3.52×10⁻⁶). Results suggest genetic polymorphisms in inflammatory and apoptotic pathways contribute to cardiac injury in fetuses exposed to maternal anti-Ro/SSA antibodies.

This study evaluated the utility of genomic profiling combining multiple low-penetrance variants for colorectal cancer (CRC) risk prediction and screening. Using simulations and ARCTIC study data (1,257 cases, 1,336 controls), the authors found that 140-160 common risk variants (OR ~1.2 each) would be needed to capture 80% of CRC cases in the top 50% of individuals by genetic risk score. In empirical analysis, a panel of replicated variants (rs1801282, rs2289046, rs2472300, rs3099844, rs4779584, rs10505477, rs10735810) achieved modest predictive value (AUC 0.54-0.66 with age/sex), with subjects carrying 30+ risk alleles showing 2.26-fold increased risk (95% CI 1.27-4.04) versus those with ≤20 alleles.