rs2157719

This methods paper compares permutation feature importance (PFI) and built-in coefficients (BIC) for identifying important genetic variants in Random Forest models with non-additive epistatic interactions. Using simulated datasets and real data from Alzheimer's disease and Primary Open Angle Glaucoma studies, the authors show that PFI provides more precise feature importance ranking in the presence of gene-gene interactions.

Genome-wide association study and meta-analysis of intraocular pressure (IOP) in 6,236 European ancestry subjects from three cohorts (NEIGHBOR, GLAUGEN, AMD-MMAP MI). Meta-analysis identified a significant association at TMCO1 (rs7518099-G, beta = 0.76 mmHg/allele, p = 8.0 × 10−8). The study replicated previously reported associations at TMCO1, CDKN2B-AS1, GAS7, CAV1/CAV2, and SIX1/SIX6 loci with consistent effect sizes and directions. Results show gender-specific effects and age-dependent trends for IOP association with common variants.

This genome-wide association study identified four genes influencing theta band event-related oscillations, a heritable neuroelectrical trait associated with alcohol dependence. The strongest association for alcohol dependence risk was rs7916403 in serotonin receptor gene HTR7 on chromosome 10q23 (combined P = 1.53 × 10⁻⁴), with a recessive effect (OR = 1.32–1.37, P = 0.031–0.042). Other significant markers included rs4907240 in ARID5A (P = 3.68 × 10⁻⁶), rs13831 in GNAS1, and non-synonymous rs2294015 in ANXA13.