Genome-Wide Search for Nonadditive Allele Effects Identifies <i>PSKH2</i> as Involved in the Variability of Factor V Activity.

ABSTRACT:

Background

Factor V (FV) is a key molecular player in the coagulation cascade. FV plasma levels have been associated with several human diseases, including thrombosis, bleeding, and diabetic complications. So far, 2 genes have been robustly found through genome-wide association analyses to contribute to the inter-individual variability of plasma FV levels: structural F5 gene and PLXDC2.

Methods and results

The authors used the underestimated Brown-Forsythe methodology implemented in the QuickTest software to search for non-additive genetic effects that could contribute to the inter-individual variability of FV plasma activity. QUICKTEST was applied to 4 independent genome-wide association studies studies (LURIC [Ludwigshafen RIsk and Cardiovascular Health Study], MARTHA [Mar

SUBMITTER: Gendre B 

PROVIDER: S-EPMC11935730 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature