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Thrombomodulin (TM) was discovered in the 1980s when it was recognized that zymogen protein C (PC) is converted to activated protein C (APC) by thrombin
.
The PC anticoagulation system plays a key role in regulating hemostasis
thrombus
The aim of this study was to determine the risk of thrombosis in individuals with rare and common THBD variants in a large middle-aged and elderly population
.
Qualified mutational analysis was performed on the THBD exome sequences of 28,794 subjects (born 1923-1950, 60% female) who participated in the Malmö Diet and Cancer Study (1991-1996)
.
Patients were followed from baseline until the first occurrence of VTE, death, or 2018
We found that a single common coding mutation, rs1042579, was not associated with VTE events
.
Sixteen rare mutations were classified as eligible and included in the fold analysis
CONCLUSIONS: Rare eligible THBD mutations are associated with VTE, suggesting that rare variants in THBD contribute to the development of VTE
.
.
Original source:
Eric Manderstedt.
et al.
Thrombomodulin (THBD) gene variants and thrombotic risk in a population-based cohort study .
Original Source: Thrombomodulin (THBD) gene variants and thrombotic risk in a population-based cohort study Leave a comment here