Low level of the plasma sphingolipid, glucosylceramide, is associated with thrombotic diseases.

Background: One previous pilot study suggested the association of low plasma glucosylceramide (GlcCer) levels with venous thrombosis (VTE) risk. Objective: We aimed to confirm and evaluate the association of low plasma GlcCer levels with VTE and myocardial infarction (MI) occurrence, respectively. Patients and Methods: We evaluated the association of GlcCer in two independent case-control studies of Caucasian VTE populations (N=210 and 636) and one case-control study of Caucasian MI patients (N=345). Result: Plasma GlcCer levels in VTE patients were lower compared to controls in two independent VTE populations (5.0 vs 5.8 mu g/mL, P=.003 for the Scripps registry, and 5.6 vs 6.0 mu g/mL, P=.001 for the Valencia registry, respectively). A low plasma GlcCer level (below tenth percentile of controls) was associated with increased VTE occurrence (odds ratio [OR]=3.7 [95% CI, 1.8-7.9] for Scripps registry and OR=2.1 [95% CI, 1.3-3.3] for Valencia registry, respectively). For the MI study, the median GlcCer plasma level was lower in MI patients than in controls (4.3 vs 5.6 mu g/mL, P<.001), and a low level of GlcCer (below tenth percentile of control) was associated with higher MI occurrence (OR=7.7, [95% CI, 4.3-13.8]). Conclusion: Lower concentration of GlcCer was associated with VTE occurrence in 2 independent studies and also with MI occurrence in 1 study.