Gendre B, Martinez-Perez A, Kleber ME, van Hylckama Vlieg A, Boland A, Olaso R, Germain M, Munsch G et al.
Four GWAS cohorts including LURIC (total n = 4505, European ancestry) were meta-analysed using the Brown-Forsythe approach to detect non-additive genetic effects on Factor V plasma activity variability. A genome-wide significant locus at PSKH2 (rs75463553; P = 3.38 x 10-9) associated with FV variance but not mean levels was identified, with no between-cohort heterogeneity. The findings implicate neutrophil biology in FV regulation and suggest interactions with smoking-related loci GRIN2A and POM121L12.
Journal of the American Heart Association, 18. Oktober 2024 | PMID 39424413