Alpha 2-macroglobulin 5 bp insertion/deletion polymorphism increases the risk of recurrent venous thromboembolism
Ahmad, Abrar LU ; Sundquist, Kristina LU ; Svensson, Peter J. LU ; Sundquist, Jan LU ; Zöller, Bengt LU
and Memon, Ashfaque A.
LU
(2018)
In Gene Reports
13.
p.104-109
- Abstract
Alpha 2-macroglobulin (A2M) is a protease inhibitor that has been reported to neutralize thrombin, which may decrease the risk of thrombosis. A 5-base pairs (bp) insertion/deletion polymorphism (rs3832852) at the splice acceptor site of exon 18 has been shown to affect the binding of A2M with proteases. However, the role of this important variant in A2M in recurrent VTE is unknown. We investigated the role of 5 bp insertion/deletion polymorphism in VTE recurrence in a follow up study. A2M 5 bp insertion/deletion polymorphism was genotyped in Malmö Thrombophilia Study (MATS, n = 1465, with follow up of ~10 years) by TaqMan Allelic Discrimination assay. Univariate Cox regression analysis showed that A2M polymorphism was significantly... (More)
Alpha 2-macroglobulin (A2M) is a protease inhibitor that has been reported to neutralize thrombin, which may decrease the risk of thrombosis. A 5-base pairs (bp) insertion/deletion polymorphism (rs3832852) at the splice acceptor site of exon 18 has been shown to affect the binding of A2M with proteases. However, the role of this important variant in A2M in recurrent VTE is unknown. We investigated the role of 5 bp insertion/deletion polymorphism in VTE recurrence in a follow up study. A2M 5 bp insertion/deletion polymorphism was genotyped in Malmö Thrombophilia Study (MATS, n = 1465, with follow up of ~10 years) by TaqMan Allelic Discrimination assay. Univariate Cox regression analysis showed that A2M polymorphism was significantly associated with higher risk of VTE recurrence (hazard ratio [HR] = 2.61, 95% confidence interval [CI] = 1.06–6.45, P = 0.037). This association remained significant (HR = 2.61, 95% CI = 1.06–6.47, P = 0.038) even after adjusting for sex, family history of VTE, thrombophilia and acquired risk factors for VTE. In conclusion, our results indicate that patients with A2M 5 bp insertion/deletion polymorphism are at significantly higher risk of VTE recurrence and this may predict VTE recurrence.
(Less)
- author
- Ahmad, Abrar
LU
; Sundquist, Kristina
LU
; Svensson, Peter J.
LU
; Sundquist, Jan
LU
; Zöller, Bengt
LU
and Memon, Ashfaque A.
LU
- organization
- publishing date
- 2018-12-01
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Cox regression analysis, Splice site, Venous thromboembolism
- in
- Gene Reports
- volume
- 13
- pages
- 6 pages
- publisher
- Elsevier
- external identifiers
-
- scopus:85053381535
- ISSN
- 2452-0144
- DOI
- 10.1016/j.genrep.2018.09.007
- project
- Identification of diagnostic and prognostic biomarkers of venous thromboembolism and its recurrence
- Genetic risk factor of venous thromboembolism and its recurrence
- language
- English
- LU publication?
- yes
- id
- cf428009-5474-48eb-a277-70fa4108038d
- date added to LUP
- 2018-10-08 11:12:22
- date last changed
- 2022-01-31 05:52:55
@article{cf428009-5474-48eb-a277-70fa4108038d,
abstract = {{<p>Alpha 2-macroglobulin (A2M) is a protease inhibitor that has been reported to neutralize thrombin, which may decrease the risk of thrombosis. A 5-base pairs (bp) insertion/deletion polymorphism (rs3832852) at the splice acceptor site of exon 18 has been shown to affect the binding of A2M with proteases. However, the role of this important variant in A2M in recurrent VTE is unknown. We investigated the role of 5 bp insertion/deletion polymorphism in VTE recurrence in a follow up study. A2M 5 bp insertion/deletion polymorphism was genotyped in Malmö Thrombophilia Study (MATS, n = 1465, with follow up of ~10 years) by TaqMan Allelic Discrimination assay. Univariate Cox regression analysis showed that A2M polymorphism was significantly associated with higher risk of VTE recurrence (hazard ratio [HR] = 2.61, 95% confidence interval [CI] = 1.06–6.45, P = 0.037). This association remained significant (HR = 2.61, 95% CI = 1.06–6.47, P = 0.038) even after adjusting for sex, family history of VTE, thrombophilia and acquired risk factors for VTE. In conclusion, our results indicate that patients with A2M 5 bp insertion/deletion polymorphism are at significantly higher risk of VTE recurrence and this may predict VTE recurrence.</p>}},
author = {{Ahmad, Abrar and Sundquist, Kristina and Svensson, Peter J. and Sundquist, Jan and Zöller, Bengt and Memon, Ashfaque A.}},
issn = {{2452-0144}},
keywords = {{Cox regression analysis; Splice site; Venous thromboembolism}},
language = {{eng}},
month = {{12}},
pages = {{104--109}},
publisher = {{Elsevier}},
series = {{Gene Reports}},
title = {{Alpha 2-macroglobulin 5 bp insertion/deletion polymorphism increases the risk of recurrent venous thromboembolism}},
url = {{http://dx.doi.org/10.1016/j.genrep.2018.09.007}},
doi = {{10.1016/j.genrep.2018.09.007}},
volume = {{13}},
year = {{2018}},
}