Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes

Journal of Thrombosis and Haemostasis : JTH
Hugoline de HaanINVENT consortium

Abstract

Essentials Deep vein thrombosis (DVT) has a large unknown genetic component. We sequenced coding areas of 734 hemostasis-related genes in 899 DVT patients and 599 controls. Variants in F5, FGA-FGG, CYP4V2-KLKB1-F11, and ABO were associated with DVT risk. Associations in KLKB1 and F5 suggest a more complex genetic architecture than previously thought. SUMMARY: Background Although several genetic risk factors for deep vein thrombosis (DVT) are known, almost all related to hemostasis, a large genetic component remains unexplained. Objectives To identify novel genetic determinants by using targeted DNA sequencing. Patients/Methods We included 899 DVT patients and 599 controls from three case-control studies (DVT-Milan, Multiple Environmental and Genetic Assessment of risk factors for venous thrombosis [MEGA], and the Thrombophilia, Hypercoagulability and Environmental Risks in Venous Thromboembolism [THE-VTE] study) for sequencing of the coding regions of 734 genes involved in hemostasis or related pathways. We performed single-variant association tests for common variants (minor allele frequency [MAF] ≥ 1%) and gene-based tests for rare variants (MAF ≤ 1%), accounting for multiple testing by use of the false discovery rate (FDR). ...Continue Reading

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Citations

Aug 8, 2019·Current Opinion in Cardiology·Robert M SternJean M Connors
Nov 5, 2019·Journal of Thrombosis and Haemostasis : JTH·Weihong TangNathan Pankratz
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Nov 16, 2021·Thrombosis and Haemostasis·Christine Van LaerKathleen Freson

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Methods Mentioned

BETA
Human Genome Sequencing

Software Mentioned

PLINK
CASSANDRA
CASAVA
VCFTOOLS
SEQ
GENOME ANALYSIS TOOLKIT
ATLAS2 suite
MEGA
MERCURY
INVENT

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