A Case Control Study on the Contribution of Factor V-Leiden, Prothrombin G20210A, and MTHFR C677T Mutations to the Genetic Susceptibility of Deep Venous Thrombosis

FV Leiden Mutation and Deep Venous Thrombosis in Vojvodina: A Case-Control StudyBetween September 2007 and February 2010, the occurrence of symptomatic deep venous thrombosis (DVT) was investigated in a cohort of 79 consecutive patients. A case-control study inclu ded 71 healthy controls matched with cases for sex and age. The prevalence of factor V G1691A mutation genotype was analyzed. Eighteen cases (22.79%; 95% confidence interval (CI) 13.53% to 32.03%) and four controls (5.63%; 95% CI 0.27% to 10.99%) were heterozygous carriers of FV Leiden (p= 0.025). The odds ratio for DVT was 4.94 (95% CI 1.58 to 15.42) and the relative risk 4.04 (95% CI 1.44-11.38) compared with FV 1691G carriers. Four cases were homozygous carriers of FV Leiden, giving a prevalence of 5.06% (95% CI 0.23 to 9.89%) and no controls, therefore OR and RR calculation was based on the prevalence of homozygotes in the general Caucasian population. The OR for DVT was 47.28 (95% CI 0.04 - 52167.3) and the RR 45.57 (95% CI 0.04 to 49540.77; p=0.025) compared with FV 1691 G carriers. Our study confirms that factor V Leiden carriers in Vojvodina, as in similar studies previously carried out in other populations, have an increased risk of developing DVT. The evaluated risk of DVT in heterozygous carriers of the mutation is four- to five-fold higher, whereas for homozygous carriers it is 45- to 48-fold higher than in non-carriers. These results confirm that patients with DVT and their relatives should undergo screening for FV Leiden mutation.

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A case control study of deep venous thrombosis in relation to factor V G1691A (Leiden) and A4070G (HR2 Haplotype) polymorphisms

Experimental and Molecular Pathology ◽

10.1016/j.yexmp.2007.04.006 ◽

2007 ◽

Vol 83 (3) ◽

pp. 480-483 ◽

Cited By ~ 7

Author(s):

Lobna Bouaziz-Borgi ◽

Philipe Nguyen ◽

Nathalie Hezard ◽

Umayya Musharrafieh ◽

Wassim Y. Almawi ◽

...

Keyword(s):

Venous Thrombosis ◽

Deep Venous Thrombosis ◽

Case Control Study ◽

Case Control ◽

Factor V ◽

Factor V G1691a ◽

Control Study

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Matched Case-Control Study on Factor V Leiden and the Prothrombin G20210A Mutation in Patients With Ischemic Stroke/Transient Ischemic Attack Up to the Age of 60 Years

Stroke ◽

10.1161/01.str.0000170635.45745.b8 ◽

2005 ◽

Vol 36 (7) ◽

pp. 1405-1409 ◽

Cited By ~ 62

Author(s):

Wolfgang Lalouschek ◽

Martin Schillinger ◽

Kety Hsieh ◽

Georg Endler ◽

Susanne Tentschert ◽

...

Keyword(s):

Case Control Study ◽

Factor V Leiden ◽

Case Control ◽

Prothrombin G20210a ◽

Factor V ◽

G20210a Mutation ◽

Matched Case ◽

Ischemic Attack ◽

Matched Case Control Study ◽

Control Study

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Factor-V Leiden G1691A and prothrombin G20210A polymorphisms in Sudanese women with preeclampsia, a case -control study

BMC Medical Genetics ◽

10.1186/s12881-018-0737-z ◽

2019 ◽

Vol 20 (1) ◽

Cited By ~ 7

Author(s):

Nadir A. Ahmed ◽

Ishag Adam ◽

Salah Eldin G. Elzaki ◽

Hiba A. Awooda ◽

Hamdan Z. Hamdan

Keyword(s):

Case Control Study ◽

Factor V Leiden ◽

Case Control ◽

Prothrombin G20210a ◽

Factor V ◽

Control Study

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Genetic and Clinical Predictors of Left Atrial Thrombus: A Single Center Case-Control Study

Clinical and Applied Thrombosis/Hemostasis ◽

10.1177/10760296211021171 ◽

2021 ◽

Vol 27 ◽

pp. 107602962110211

Author(s):

Adrian Springer ◽

Ruben Schleberger ◽

Florian Oyen ◽

Boris A. Hoffmann ◽

Stephan Willems ◽

...

Keyword(s):

Left Atrial ◽

Case Control Study ◽

Thrombus Formation ◽

Factor V Leiden ◽

Case Control ◽

Prothrombin G20210a ◽

Factor V ◽

Clinical Predictors ◽

Clinical Conditions ◽

Control Study

Left atrial (LA) thrombus formation is the presumed origin of thromboembolic complications in patients with atrial fibrillation (AF). Beyond clinical risk factors, the factors causing formation of LA thrombi are not well known. In this case-control study, we analyzed clinical characteristics and genetic thrombophilia markers (factor V Leiden (FVL), prothrombin G20210A (FIIV), Tyr2561 variant of von Willebrand factor (VWF-V)) in 42 patients with AF and LA thrombus (LAT) and in 68 control patients with AF without LAT (CTR). Patients with LAT had more clinical conditions predisposing to stroke (mean CHA2DS2-VASc-score 3.4 ± 1.5 vs. 1.9 ± 1.4; P < 0.001), a higher LA volume (96 ± 32 vs. 76 ± 21 ml, P = 0.002) and lower LA appendage emptying velocity (0.21 ± 0.11vs. 0.43 ± 0.19 m/s, P < 0.001). Prevalence of FVL, FIIV and VWF-V mutations was not different, but in the subgroup of patients <65 years (y) there was a tendency for a higher incidence of VWF-V with a prevalence of 27% (LAT <65 y) vs. 7% (CTR <65 y, P = 0.066). These findings warrant further investigation of the VWF-V as a risk factor for LA thrombogenesis in younger patients.

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