The Contributions of Thrombophilic Mutations to Genetic Susceptibility to Deep Venous Thrombosis in Iraqi Patients

Al-Allawi, Nasir; Badi, Ameer I.A.; Goran, Musheer A.; Nerweyi, Farida F. A.; Ballo, Hawar M.S.; Al-Mzury, Najat T.M.

doi:10.1089/gtmb.2015.0099

Cited by 5 publications

(5 citation statements)

References 29 publications

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“…have been shown to be significant risk factors in various studies. 3,9,13,14 The present study is also in agreement, due to high prevalence of medical comorbidities all over the world.…”

Section: Discussionsupporting

confidence: 89%

“…4,11,12 About thrombophilia (symptomatic and asymptomatic) no case was found in this study due to low prevalence of this disease in Iraq. 13 A study by Arab H. et al 3 had similar results about Saudi Arabia, in contrast to a study in UK by Dargaud, which showed the prevalence to be 66.8%. 4 Postnatal risk factors include cesarean section, particularly if this was associated with a prolonged hospital stay or emergency delivery.…”

Section: Discussionmentioning

confidence: 83%

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Risk assessment of maternal venous thromboembolism in antenatal and postnatal period; a cross-sectional, descriptive study

Hassan¹,

Mohmmed²

2022

Anaesth. pain intensive care

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Background: Venous thromboembolism (VTE), encompassing deep vein thrombosis (DVT) and pulmonary embolism (PE), is quite common disease and is associated with substantial morbidity and mortality. According to report on mortality by Iraqi Ministry of Health, maternal pulmonary embolism was the second most common cause among the direct causes of maternal deaths. We assessed the risk of thromboembolism during pregnancy and puerperium. Methodology: This cross-sectional, descriptive study was conducted in selected primary healthcare centers in Al-Najaf during the period from April 01, 2018 to December 01, 2018. We selected 236 women (pregnant and postpartum) by convenient sampling method. All pregnant and postpartum women reporting to the hospital constituted the target population of the study. Results: Risk assessment in antenatal group was low in 119 (74.4%) women, intermediate in 40 (25.0%) and high in one (0.6%) woman, while in postnatal group it was low in 50 (65.8%), intermediate in 25 (32.9%) and high in one woman (1.3%). According to these findings, the frequency of low risk was higher in antenatal group compared to postnatal group, while the frequency of intermediate and high risks was higher in postnatal than antenatal group; however, the differences were not significant statistically, (P > 0.05). Conclusion: Women have more high and intermediate risk of thromboembolism in the postnatal period than antenatal period. The significant risk factors are multiple parity, middle age, gross obesity, medical comorbidities, preeclampsia, current systemic infection, elective cesarean section and hyperemesis gravidarum with dehydration.

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“…have been shown to be significant risk factors in various studies. 3,9,13,14 The present study is also in agreement, due to high prevalence of medical comorbidities all over the world.…”

Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 83%

Risk assessment of maternal venous thromboembolism in antenatal and postnatal period; a cross-sectional, descriptive study

Hassan¹,

Mohmmed²

2022

Anaesth. pain intensive care

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“…In such a condition, inductive reasoning is not possible, and therefore the analysis of both variants was removed from the Section 3. These variants in FVL and PRT are known thrombotic factors impacting TEEs but not in SCD across various ethnic groups, including the Saudi population, as supported by previous studies [23][24][25][26][27][28][29][30]. A recent meta-analysis that included 18 studies from mixed populations comparing 30,234 VTE cases and 172,122 controls detected FVL (rs6025) as the highest signal marker (1.4 × 10 −188 ) [51].…”

Section: Discussionmentioning

confidence: 64%

“…Thrombotic episodes and graft rejection were also noted in patients who underwent kidney transplantation and were heterozygous for the FVL variant [24]. Carriers of this variant are more susceptible to deep venous thrombosis (DVT) [25]. PRT (FII) (G20210A, rs1799963) was also identified as a risk factor for pulmonary embolism [26] and myocardial infarction [27].…”

Section: Introductionmentioning

confidence: 99%

Impact of Genetic Variations on Thromboembolic Risk in Saudis with Sickle Cell Disease

Alshabeeb,

Alwadaani,

Al Qahtani

et al. 2023

Genes

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Background: Sickle cell disease (SCD) is a Mendelian disease characterized by multigenic phenotypes. Previous reports indicated a higher rate of thromboembolic events (TEEs) in SCD patients. A number of candidate polymorphisms in certain genes (e.g., FVL, PRT, and MTHFR) were previously reported as risk factors for TEEs in different clinical conditions. This study aimed to genotype these genes and other loci predicted to underlie TEEs in SCD patients. Methodology: A multi-center genome-wide association study (GWAS) involving Saudi SCD adult patients with a history of TEEs (n = 65) and control patients without TEE history (n = 285) was performed. Genotyping used the 10× Affymetrix Axiom array, which includes 683,030 markers. Fisher’s exact test was used to generate p-values of TEE associations with each single-nucleotide polymorphism (SNP). The haplotype analysis software tool version 1.05, designed by the University of Göttingen, Germany, was used to identify the common inherited haplotypes. Results: No association was identified between the targeted single-nucleotide polymorphism rs1801133 in MTHFR and TEEs in SCD (p = 0.79). The allele frequency of rs6025 in FVL and rs1799963 in PRT in our cohort was extremely low (<0.01); thus, both variants were excluded from the analysis as no meaningful comparison was possible. In contrast, the GWAS analysis showed novel genome-wide associations (p < 5 × 10−8) with seven signals; five of them were located on Chr 11 (rs35390334, rs331532, rs317777, rs147062602, and rs372091), one SNP on Chr 20 (rs139341092), and another on Chr 9 (rs76076035). The other 34 SNPs located on known genes were also detected at a signal threshold of p < 5 × 10−6. Seven of the identified variants are located in olfactory receptor family 51 genes (OR51B5, OR51V1, OR51A1P, and OR51E2), and five variants were related to family 52 genes (OR52A5, OR52K1, OR52K2, and OR52T1P). The previously reported association between rs5006884-A in OR51B5 and fetal hemoglobin (HbF) levels was confirmed in our study, which showed significantly lower levels of HbF (p = 0.002) and less allele frequency (p = 0.003) in the TEE cases than in the controls. The assessment of the haplotype inheritance pattern involved the top ten significant markers with no LD (rs353988334, rs317777, rs14788626882, rs49188823, rs139349992, rs76076035, rs73395847, rs1368823, rs8888834548, and rs1455957). A haplotype analysis revealed significant associations between two haplotypes (a risk, TT-AA-del-AA-ins-CT-TT-CC-CC-AA, and a reverse protective, CC-GG-ins-GG-del-TT-CC-TT-GG-GG) and TEEs in SCD (p = 0.024, OR = 6.16, CI = 1.34–28.24, and p = 0.019, OR = 0.33, CI = 0.13–0.85, respectively). Conclusions: Seven markers showed novel genome-wide associations; two of them were exonic variants (rs317777 in OLFM5P and rs147062602 in OR51B5), and less significant associations (p < 5 × 10−6) were identified for 34 other variants in known genes with TEEs in SCD. Moreover, two 10-SNP common haplotypes were determined with contradictory effects. Further replication of these findings is needed.

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“…However, in Asians, including Chinese populations, F2 mutations are rare. Little was known regarding the genetic background of DVT, however, previous research has since revealed common genetic risk factors in DVT (7–9). This research did not focus on Chinese populations, and the underlying molecular mechanisms remain to be elucidated.…”

Section: Introductionmentioning

confidence: 99%

A genetic risk factor for thrombophilia in a Han Chinese family

Sun

Jia

Meng

et al. 2017

Molecular Medicine Reports

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Thrombophilia is a multifactorial disorder involving environmental and genetic factors. Well-known factors that result in predisposition to congenital disorders associated with thrombophilia include antithrombin deficiency, protein C and S deficiency, Factor V Leiden mutation, abnormal prothrombin and antiphospholipid syndrome. The present study revealed an association between a mutation of the F2 gene, which codes for coagulation factor II, thrombin, and the risk of thrombophilia in a Han Chinese family, of which four members (I-2, II-2, II-3 and III-1) had a history of deep venous thromboembolism. The disease was measured in this family using laboratory measurements and computed tomography angiography. To identify the abnormality underlying the increased thrombophilia risk, whole-exome sequencing technology was used to analyze two affected individuals (II-2 and III-1). An exonic missense F2 mutation, T165M (NM_000506:c.C494T:p.T165M;rs5896), was identified from a total of 2,222 and 2,203 genetic variations observed in the two affected individuals, respectively, which were subsequently filtered and confirmed using Sanger sequencing. I-2, II-3 and III-1 shared this mutation with the proband (II-2), and II-6 had a heterozygous form of the mutation. This deleterious mutation was not identified in normal controls. The present study may improve understanding of the function of the F2 gene.

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The Contributions of Thrombophilic Mutations to Genetic Susceptibility to Deep Venous Thrombosis in Iraqi Patients

Abstract: Two or more thrombophilic alleles, as well as FVL on its own, were both significantly associated with an increased risk of venous thrombosis and recurrence in Iraqi patients. Single thrombophilic mutations on their own were not associated with an increased risk.

Cited by 5 publications

References 29 publications

Risk assessment of maternal venous thromboembolism in antenatal and postnatal period; a cross-sectional, descriptive study

Risk assessment of maternal venous thromboembolism in antenatal and postnatal period; a cross-sectional, descriptive study

Impact of Genetic Variations on Thromboembolic Risk in Saudis with Sickle Cell Disease

A genetic risk factor for thrombophilia in a Han Chinese family

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