Associations between polymorphisms in coagulation-related genes and venous thromboembolism

Jiang, Jun; Liu, Kang; Zou, Junjie; Ma, Hao; Yang, Hongyu; Zhang, Xiwei; Jiao, Yuanyong

doi:10.1097/md.0000000000006537

Cited by 18 publications

(14 citation statements)

References 47 publications

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“…The occurrence of the thromboembolic disease is in the line with the simultaneous presence of a gene polymorphisms and environmental risk factors which can partly explain the inconsistent results of similar studies conducted in different geographic regions 10,11,34 . The results of our study show that the presence of polymorphisms FII G20210A and FV G1691A is significantly higher in the VTE group compared to a healthy control group.…”

Section: Discussionmentioning

confidence: 99%

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Association of prothrombin, FV Leiden and MTHFR gene polymorphisms in the Montenegrin patients with venous thromboembolism

et al. 2021

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Background / Aim. Polymorphisms of the factor V Leiden (FV G1691A), factor II Prothrombin (FII G20210A) and methylenetetrahydrofolate reductase (MTHFR C677T) genes are the most commonly investigated inherited risk factors for developing venous thromboembolism (VTE). Despite this fact, there is insufficient data regarding their clinical burden and distribution in Montenegrin population. Consequently, the present study aimed to determine the frequency of these polymorphisms in Montenegrin patients with VTE. Methods. This case-control study was conducted on 160Caucasian subjects. The study group was composed of 80 patients (35 men and 45 women) with VTE. The control group consisted of 80 healthy individuals (32 men and 48 women), without previous thromboembolic episode. Genotyping of the FV G1691A, FII G20210A, and MTHFR C677T polymorphisms was performed by allele-specific polymerase chain reaction (PCR). Results. Our results demonstrated that the frequency of heterozygotes (HET) for FII G20210A and FV G1691A were significantly higher in VTE group compared to a healthy control group (χ2 = 11.7; p = 0.001 and χ2 = 17.69; p < 0.001respectively). This study confirmed the association of FII G20210A and FV G1691A polymorphisms with an increased risk of VTE (OR 10.5; 95 % CI = 2.34 to 47.27 and OR 14.8; 95 % CI = 3.34 to 65.43; p < 0.001respectively). Recessive homozygotes (RH) for FII G20210A and FV G1691A were not found in any of investigated group. As regarding MTHFR C677T, the difference between the frequency of HET and RH in the control and VTE group is not significant. Conclusion. Our study has shown that FII G20210A and FV G1691A polymorphisms are significantly associated with the VTE. Detection of above mentioned polymorphisms prior to VTE development can contribute to the prevention of further VTE occurrence, especially among patients' relatives who are carriers of these polymorphisms. Key words: venous thromboembolism, gene polymorphisms, FII G20210A, FV G1691А, MTHFR C677T. Apstrakt Uvod / Cilj. Polimorfizmi u genima koji kodiraju faktor V Leiden (FV G1691A), faktor II Protrombin (FII G20210A) i metilen tetrahidrofolat reduktazu (MTHFR C677T) su najčešće ispitivani nasledni faktori rizika za nastanak venskog tromboembolizma (VTE). Uprkos tome ne postoji dovoljno podataka o kliničkom značaju i distribuciji ovih polimorfizama u crnogorskoj populaciji. U skladu sa tim, cilj ove studije bio je da utvrdi frekvenciju ovih polimorfizama kod pacijenta sa venskim tromboembolizmom u Crnoj Gori. Metode. Studija: slučaj-kontrola. Istraživanje je sprovedeno na 160 ispitanika Kavkaskog porekla. Studijsku grupu sačinjavalo je 80 pacijenata (35 muškaraca i 45 žena) sa VTE, a kontrolna grupa se sastojala od 80 zdravih ispitanika (32 muškarca i 48 žena), koji nisu imali tromboembolijske epizode bolesti. Genotipizacija polimorfizama za: FV G1691A, FII G20210A i MTHFR C677T izvršena je alel specifičnom, lančanom reakcijom polimeraze. Rezultati. Rezultati ove studije su pokazali da je učestalost heterozigota (HET) za FII G20210A i ...

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Section: Discussionmentioning

confidence: 99%

“…Many studies suggested a multifactorial etiology of VTE. Therefore, the hereditary predisposition only represents an increased risk and does not determine if the disease will necessarily manifest in genetically affected population [7][8][9][10][11] .…”

Section: Introductionmentioning

confidence: 99%

Association of prothrombin, FV Leiden and MTHFR gene polymorphisms in the Montenegrin patients with venous thromboembolism

et al. 2021

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“…However, that meta-analysis only included 5 studies, and the analysis was only conducted with the additive model. The other meta-analysis study showed a non-significant conclusion for the pooled overall OR when removing the groups from Bezemer et al’s study [24]. In our study, the meta-analysis was performed by using three different genetic models and showed a significant association between rs13146272 and VTE.…”

Section: Discussionmentioning

confidence: 45%

“…Although previous studies have shown a significant association between rs13146272 and VTE ( p < 1.7e −07 ), this value is still far from the threshold for genome-wide significance ( p < 5.0e −08 ) [21, 23]. In addition, a meta-analysis study by Jiang et al [24] included only partial genotype data for rs13146272, possibly leading to biased outcomes. In addition, most previous studies used only the additive model for genetic analysis to evaluate the odds ratio of the variants in VTE.…”

Section: Introductionmentioning

confidence: 99%

Association of the CYP4V2 polymorphism rs13146272 with venous thromboembolism in a Chinese population

et al. 2018

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Genome-wide association studies have identified the CYP4V2 polymorphism (rs13146272) as a risk factor associated with venous thromboembolism (VTE). However, due to the small sample size and variance in genetic analysis models, the relationship between VTE and rs13146272 remains unclear. Here, we performed a case–control study to analyse the associations between rs13146272 and VTE in a Chinese population and to compare the differences among various ethnicities. In this study, 226 VTE patients and 205 healthy controls were recruited, and the allele frequency of variant rs13146272 was analysed by a MassARRAY SNP genotyping assay. In addition, 9 case–control cohorts from 5 studies involving 6667 VTE-affected individuals and 8716 control subjects were included in this meta-analysis. Pooled ORs and 95% CIs were calculated to assess the association between rs13146272 and VTE by using different genetic models. Our case–control study results showed that there was no significant association between VTE and rs13146272 under the additive model (OR = 0.92, 95% CIs: 0.70–1.21, p = 0.55) in this Chinese population. However, the results of the meta-analysis performed by merging all cohorts showed that rs13146272 was significantly associated with VTE under the additive model, recessive model and dominant model. In the additive and recessive models, the association reached the threshold for genome-wide significance ( p < 5.0e −08 ). In conclusion, our pooled systematic study results indicated that individuals with the A allele had a higher risk of developing VTE than those with the C allele of the rs13146272 variant, but the risk was inconsistent among different ethnicities. Further validation of this association with larger sample sizes and multiple ethnicities is warranted.

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“…Moreover, it provided adjusted thresholds for both statistical significance and futility according the quantified strength of the evidence and the impact of multiplicity. [ 27 ] We constructed Z -curves for both primary and secondary outcomes, and alpha conventional threshold for significance testing was set at 5%. The expected intervention effect may be achieved and no further trials required when the cumulative Z -curve crosses the trial sequential monitoring boundary or enters the futility area.…”

Section: Methodsmentioning

confidence: 99%

Associations between serum vitamin D and the risk of female reproductive tumors

Yan

Luan

et al. 2018

Medicine

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Associations between polymorphisms in coagulation-related genes and venous thromboembolism

Abstract: Supplemental Digital Content is available in the text

Cited by 18 publications

References 47 publications

Association of prothrombin, FV Leiden and MTHFR gene polymorphisms in the Montenegrin patients with venous thromboembolism

Association of prothrombin, FV Leiden and MTHFR gene polymorphisms in the Montenegrin patients with venous thromboembolism

Association of the CYP4V2 polymorphism rs13146272 with venous thromboembolism in a Chinese population

Associations between serum vitamin D and the risk of female reproductive tumors

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