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

AbstractThe 1691 (G>A) factor V Leiden (FVL) and 20210 (G>A) prothrombin (PT) mutations are the two most common genetic risk factors in venous thromboembolism. The 677 (C>T) methylene tetrahydrofolate reductase (MTHFR) mutation is the most frequently mentioned as an independent genetic risk factor for venous thromboembolism. As there are limited published data on the prevalence of the 1691, 20210 and 677 mutations in our population, the aim of this study was to determine the frequencies and association of these deep vein thrombosis mutations in the Bosnian population.This study included 111 thromboembolic patients and 207 healthy subjects with absence of known risk factors for venous thromboembolism. Genotyping of the 1691, 20210 and 677 mutations was done by polymerase chain reaction (PCR), followed by restriction digestion with MnlI, HindIII and HinfI enzymes.Out of the 111 patients, 18.0% were heterozygous and 2.70% were homozygous for the 1691 mutation. Among 207 healthy controls, 3.86%, were heterozygous for the 1691 mutation. This study confirmed the association of the 1691 mutation with deep vein thrombosis in the Bosnian population odds ratio (OR) [95% confidence interval (CI)] = 6.0 (2.62-14.14); p = 0.0001). The 20210 mutation was detected in 2.70% of patients and it was totally absent in the control group. Allele and genotype frequency of 677 did not differ significantly between the cases and controls (χ2 = 1.03; p = 0.309).

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Risk factors determining central venous access device-associated deep vein thrombosis resolution in children: a retrospective study

European Journal of Pediatrics ◽

10.1007/s00431-021-03985-5 ◽

2021 ◽

Author(s):

Miguel García-Boyano ◽

José Manuel Caballero-Caballero ◽

Marta García Fernández de Villalta ◽

Mar Gutiérrez Alvariño ◽

María Jesús Blanco Bañares ◽

...

Keyword(s):

Risk Factors ◽

Deep Vein Thrombosis ◽

Central Venous Access ◽

Venous Access ◽

Central Venous ◽

Central Venous Access Device ◽

Access Device ◽

Vein Thrombosis ◽

Venous Access Device ◽

Deep Vein

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Study on the Risk Factors of Preoperative Deep Vein Thrombosis (DVT) in Patients With Lower Extremity Fracture

Clinical and Applied Thrombosis/Hemostasis ◽

10.1177/10760296211002900 ◽

2021 ◽

Vol 27 ◽

pp. 107602962110029

Author(s):

Wenjie Chang ◽

Bin Wang ◽

Qiwei Li ◽

Yongkui Zhang ◽

Wenpeng Xie

Keyword(s):

Risk Factors ◽

Deep Vein Thrombosis ◽

Lower Extremity ◽

Color Doppler ◽

Fracture Site ◽

Vein Thrombosis ◽

Lower Extremity Fracture ◽

Extremity Fracture ◽

Deep Vein ◽

D Dimer

Objective: The objective of this work is to discuss and analyze the related factors of lower extremity fracture complicated by preoperative deep vein thrombosis (DVT). Methods: A total of 11,891 patients with closed fractures of lower extremities were selected. By analyzing each patient’s gender, age, presence or absence of diabetes and hypertension, preoperative plasma D-dimer level, and color Doppler ultrasound of the lower extremity vein, the pertinent factors of the patients with lower extremity fractures complicated by preoperative DVT were analyzed. Results: A total of 578 with preoperative DVT were detected, displaying a total incidence of 4.86%. All patients were categorized into either the DVT group or non-DVT group. The results demonstrate that there were statistically significant differences between the 2 groups in age, the presence of diabetes and hypertension, the fracture site, and the preoperative plasma D-dimer level ( P < 0.05). Logistic multivariate analysis revealed that age, the presence of diabetes, and the preoperative plasma D-dimer level of patients were independent risk factors for lower extremity fracture complicated by DVT. Conclusion: Age, the presence of diabetes, the fracture site, and increased D-dimer levels were found to be potential risk factors and indicators for preoperative DVT in patients with lower extremity fractures. In addition, the preoperative plasma D-dimer level has certain guiding significance for the prediction of venous thrombosis after lower extremity fracture, which is conducive to the early prediction and diagnosis of DVT, but it often must be followed with good clinic acumen and examinations.

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Risk factors associated with deep vein thrombosis in COVID‐19 patients

MedComm ◽

10.1002/mco2.52 ◽

2021 ◽

Author(s):

Bin Wang ◽

Li Zhang ◽

Shanye Yin ◽

Wenjun Deng ◽

Mingxing Xie

Keyword(s):

Risk Factors ◽

Deep Vein Thrombosis ◽

Factors Associated ◽

Vein Thrombosis ◽

Deep Vein

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Clinical analysis of preoperative deep vein thrombosis risk factors in patients undergoing total hip arthroplasty

Thrombosis Research ◽

10.1016/j.thromres.2015.06.021 ◽

2015 ◽

Vol 136 (5) ◽

pp. 855-858 ◽

Cited By ~ 18

Author(s):

Hiroki Wakabayashi ◽

Masahiro Hasegawa ◽

Rui Niimi ◽

Akihiro Sudo

Keyword(s):

Risk Factors ◽

Deep Vein Thrombosis ◽

Total Hip Arthroplasty ◽

Hip Arthroplasty ◽

Clinical Analysis ◽

Total Hip ◽

Vein Thrombosis ◽

Thrombosis Risk ◽

Deep Vein

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Mortality rates and risk factors for asymptomatic deep vein thrombosis in medical patients

Thrombosis and Haemostasis ◽

10.1160/th04-05-0323 ◽

2005 ◽

Vol 93 (01) ◽

pp. 76-79 ◽

Cited By ~ 91

Author(s):

Alain Leizorovicz ◽

Alexander Cohen ◽

Alexander Turpie ◽

Carl-Gustav Olsson ◽

Samuel Goldhaber ◽

...

Keyword(s):

Risk Factors ◽

Deep Vein Thrombosis ◽

Mortality Rates ◽

Hazard Ratio ◽

Group Iii ◽

Vein Thrombosis ◽

Group I ◽

Compression Ultrasound ◽

The Difference ◽

Deep Vein

SummaryThe clinical importance of asymptomatic proximal and distal deep vein thrombosis (DVT) remains uncertain and controversial. The aim of this retrospective,post-hoc analysis was to examine mortality and risk factors for development of proximal DVT in hospitalized patients with acute medical illness who were recruited into a randomized, prospective clinical trial of thromboprophylaxis with dalteparin (PREVENT).We analyzed 1738 patients who had not sustained a symptomatic venous thromboembolic event by Day 21 and who had a complete compression ultrasound of the proximal and distal leg veins on Day 21. We examined the 90-day mortality rates in patients with asymptomatic proximal DVT (Group I, N = 80), asymptomatic distal DVT (Group II, N = 118) or no DVT (Group III, N = 1540).The 90-day mortality rates were 13.75%, 3.39%, and 1.92% for Groups I–III, respectively. The difference in mortality between Group I and Group III was significant (hazard ratio 7.63, 95% CI = 3.8–15.3;p < 0.0001),whereas the difference between Groups II and III did not reach significance (hazard ratio 1.36, 95% CI = 0.41–4.45).The association of asymptomatic proximal DVT with increased mortality remained highly significant after adjusting for differences in baseline demographics and clinical variables. Risk factors significantly associated with the development of proximal DVT included advanced age (p = 0.0005), prior DVT (p = 0.001), and varicose veins (p = 0.04). In conclusion, the high mortality rate in patients with asymptomatic proximal DVT underscores its clinical relevance and supports targeting of asymptomatic proximal DVT as an appropriate endpoint in clinical trials of thromboprophylaxis.

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Thrombophilic risk factors are laterally associated with Apolipoprotein E gene polymorphisms in deep vein thrombosis patients: An Indian study

Phlebology The Journal of Venous Disease ◽

10.1177/0268355518802693 ◽

2018 ◽

Vol 34 (5) ◽

pp. 324-335

Author(s):

Pulkit Rastogi ◽

Narender Kumar ◽

Jasmina Ahluwalia ◽

Reena Das ◽

Neelam Varma ◽

...

Keyword(s):

Risk Factors ◽

Deep Vein Thrombosis ◽

Gene Polymorphisms ◽

Apoe Gene ◽

Therapeutic Implications ◽

Vein Thrombosis ◽

Apolipoprotein E Gene ◽

Polymerase Chain ◽

Apoe Genotypes ◽

Deep Vein

Introduction Deep vein thrombosis is a multifactorial disease with many acquired and genetic risk factors. Polymorphism in the APOE gene is an upcoming potential pathogenic factor whose role is unclear in deep vein thrombosis. Methods An equal number of deep vein thrombosis cases and controls (N = 100, each) were investigated for APOE gene polymorphisms along with known acquired and hereditable thrombophilic risk factors. APOE genotyping was done by polymerase chain reaction. Results The ε3/ε4 and ε2/ε3 APOE genotypes were commoner in deep vein thrombosis cases than controls but not statistically significant ( ε3/ε4 → 18% versus 11%, OR = 1.776, CI = 0.792–3.984, p = 0.16; ε2/ε3 →10% versus 9%, OR = 1.123, CI = 0.436–2.895, p = 0.809). However, the following risk factors were found to be laterally associated with APOE genotypes in cases of deep vein thrombosis: pregnancy with ε2/ε3 genotype positivity (N = 29; p = 0.019), recurrent pregnancy loss with ε3/ε3 genotype (N = 29; p = 0.016), normal antithrombin levels with ε3/ε3 genotype (N = 62; p = 0.03) and non-O blood group with ε3/ε4 genotype (N = 100; p = 0.023). Conclusion APOE genotypes have shown only a modest association with deep vein thrombosis and were not statistically significant. A lateral association of these genotypes with thrombophilic risk factors was observed which may be investigated further for the possible pathogenetic mechanisms and their therapeutic implications.

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