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Novel exomic rare variants associated with venous thrombosis
Abstract
Summary: Exomic rare variant polymorphisms (c. 300 000) were analysed in the Scripps Venous Thrombosis (VTE) registry (subjects aged <55 years). Besides coagulation factor V (F5) single nucleotide polymorphisms (SNPs), family with sequence similarity 134, member B (FAM134B; rs78314670, Arg127Cys) and myosin heavy chain 8 (MYH8; rs111567318, Glu1838Ala) SNPs were associated with recurrent VTE (n = 34 cases) (false discovery rate‐adjusted P < 0·05). FAM134B (rs78314670) was associated with low plasma levels of anticoagulant glucosylceramide. Analysis of 50 chr17p13.1 MYH rare SNPs (clustered skeletal myosin heavy chain genes) using collapsing methods was associated with recurrent VTE (P = 2·70 ×10−16). When intravenously injected, skeletal muscle myosin was pro‐coagulant in a haemophilia mouse tail bleeding model. Thus, FAM134B and MYH genetic variants are plausibly linked to VTE risk.
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Additional CCDC93 variants have been associated with venous thromboembolism, triglyceride levels, and total cholesterol levels.
“Additional CCDC93 variants have been associated with venous thromboembolism, triglyceride levels, and total cholesterol levels [50–52].”
From Genetic variation in CCDC93 is associated with elevated central systolic blood pressure, impaired arterial relaxation, and mitochondrial dysfunction (2024) · cites this paper as [51]
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Statistical analysis strategies for association studies involving rare variants
Bansal, V., Libiger, O., Torkamani, A., & Schork, N. J. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2867 · Cited by 455
Self-citationLindström, S., Wang, L., Smith, E. N., Gordon, W., van Hylckama Vlieg, A., de Andrade, M., Brody, J. A., Pattee, J. W., Haessler, J., Brumpton, B. M., et al. (2019) · Blood · doi:10.1182/blood.2019000435 · Cited by 223
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Research works printed but not linked: 13
- 10.1016/S0140-6736(16)30514-1 · DOI
- 10.1111/bjh.15004 · DOI
- 10.1160/TH15-05-0410 · DOI
- 10.1161/CIRCGENETICS.116.001643 · DOI
- 10.1002/gepi.22187 · DOI
- 10.1111/jth.14676 · DOI
- 10.1002/rth2.12018 · DOI
- 10.1002/jcp.26384 · DOI
- 10.1016/j.bbrc.2014.10.117 · DOI
- 10.1186/s13073-015-0138-2 · DOI
- 10.1073/pnas.89.24.12078 · DOI
- 10.1182/blood-2016-03-707679 · DOI
- 10.1182/bloodadvances.2017005249 · DOI
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Kumar, N., Yang, M.-L., Sun, P., Hunker, K. L., Li, J., Jia, J., Fan, F., Wang, J., Ning, X., Gao, W., et al. (2024) · PLOS Genetics · doi:10.1371/journal.pgen.1011151 · Cited by 1
Metadata
- Authors
- Deguchi, H., Shukla, M., Hayat, M., Torkamani, A., Elias, D. J., & Griffin, J. H.
- Affiliations
- Department of Molecular Medicine The Scripps Research Institute La Jolla CA USA
- Venue
- British Journal of Haematology
- Publisher
- Wiley
- Published
- 2020-03-30
- Volume
- 190
- Issue
- 5
- Pages
- 783-786
- ISSN
- 0007-1048
- 1365-2141
- PMC
- PMC7732677
- Cited by
- 19
- References
- 2
- Language
- en
- Funders
- National Institutes of Health (RO1 HL133728, 8UL1 TR000109, 5 UL1 RR025774)
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