Factor XIII Val34Leu polymorphism and risk of recurrent pregnancy loss in Iranian population: a case control study

Sajjadi, Seyed Mehdi; Khosravi, Abbas; Pakravesh, Jalil; Soheili, Zahra‐Soheila; Samiei, Shahram; Mohammadi, Saeed; Far, Mohammad Ali Jalali

doi:10.1007/s11515-016-1419-x

Cited by 5 publications

(3 citation statements)

References 34 publications

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“…The heterozygous and homozygous FXIII Val34Leu polymorphisms as well as the Leu allele frequency were significantly higher in the studied patients than the control group. This coincides with the results of a recent study which pointed out that heterozygosity and, to a slightly larger extent, homozygosity for FXIII Val34Leu polymorphism might be considered as risk factors for RPL [20] . In addition, FXIII Val34Leu polymorphism has been reported to carry an elevated overall risk for RPL in women homozygous for the FXIII 34Leu as well as in compound carriers of the FXIII 34Leu [12] .…”

Section: Discussionsupporting

confidence: 91%

Polymorphisms of plasminogen activator iInhibitor-1 4G/5G, coagulation factor XIII Val34 Leu and angiotensin converting enzyme I/D impact on recurrent implantation failure

2018

Evidence Based Women's Health Journal

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Repeated implantation failure (RIF) is recognized when transferred embryos fail to implant following repeated in vitro fertilization (IVF) cycles. A functional balance of fibrinolysis and coagulation may secure adequate trophoblast invasion, which is crucial for a regular implantation. During cytotrophoblast invasion, plasminogen activator inhibitor 1 (PAI-1) appears to be involved in controlling proteolysis and remodeling of maternal tissue. Coagulation factor XIII (FXIII) may have an impact on the ability of the trophoblast to invade into the endometrium and to stabilize attachment with fibrin cross-linking. Angiotensin converting enzyme (ACE) participates in the regulation of vascular tone and changes in vascular metabolites affect the functions of the fetoplacental complex and may induce abnormalities of blood circulation in the placenta. The aim of this study was to assess the predictive value of PAI-1 4G/5G, FXIII Val34Leu and ACE I/D polymorphisms on the IVF outcome in Egyptian women with repeated IVF failure. The present study was conducted on 60 women with repeated IVF failure, three or more previous IVF-embryo transfer cycles and 60 healthy age-matched women eligible for IVF. PCR-RFLP for the PAI-1 4G/5G, FXIII Val34Leu and ACE I/D polymorphisms was done for cases and control groups. Cases with RIF showed higher prevalence of the 4G allele of the PAI-1 -675 4G/5G polymorphism (P = 0.029). Higher frequencies of the heterozygous and homozygous FXIII polymorphism were noted in cases (P = 0.016, 0.020, respectively) together with higher risk to carry the Leu allele (P = 0.001). The heterozygous ACE I/D polymorphism was predominant in the studied cases (P = 0.011). The data point to the importance of the PAI-1 4G/5G and the FXIII Val34Leu and to a lesser extent the ACE I/D, polymorphisms as possible biomarkers to select populations at risk of implantation failure prior to attempting pregnancy. Nevertheless, larger scale studies are recommended to support the results.

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Section: Discussionsupporting

confidence: 91%

Polymorphisms of plasminogen activator iInhibitor-1 4G/5G, coagulation factor XIII Val34 Leu and angiotensin converting enzyme I/D impact on recurrent implantation failure

2018

Evidence Based Women's Health Journal

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“…XI, XIII, combined FV and VIII and vitamin K-dependent coagulation factors (VKDC). Like Iran, there is a significant association between FXIII Val34Leu polymorphism and unexplained recurrent pregnancy loss 10 . Rare diseases of platelet function defects (PFD) include a large group of illnesses with high prevalence in Middle East, India and developing countries 11 .…”

Section: Introductionmentioning

confidence: 99%

Inherited Bleeding Disorders in Iraq and Consanguineous Marriage

Al-Rahal

2018

IJHOSCR

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Background: Consanguineous marriage is defined as inbreeding between second cousins or closer. In such families there will be a potential increase in the autosomal recessive traits with its lethal effect, with an increased risk of morbidity and mortality in the new generation. Inherited bleeding disorders (InBDs) are rare complicated diseases, difficult and expensive to treat, the defect usually due to quantitative or qualitative deficiency of clotting factors, platelets or fibrinolysis. This study attempts to assess the diversity, the frequency and the clinical features of inherited bleeding disorders (InBDs) in central part of Iraq and to determine the state of consanguineous marriage. Materials and Methods: This is a prospective cross-sectional study conducted in the National Center of Hematology NCH, Baghdad, Iraq between June2014 and June 2017. In total, 256 pediatrics and adult patients were included. Full bleeding history, family history, drug history and consanguineous marriage were recorded and followed by medical examination. First-line laboratory tests were performed and then were followed by further tests included mixing study, lupus anticoagulant testing, clotting factor activity assay, von Willebrand Antigen (VW: Ag), Ristocetin co factor vWF: RiCoF activity and platelet function test. Results: The range of age was from 1 month to 57 years, with mean age 8.424±8.623 years and median age of 6.5years. The male to female ratio was 1.1:1. The most common age group was in the range of 1-10 years (46.45%). Family history was positive in 55.07% of patients (P >0.05). The consanguinity was found in 76.95% of the families studied (P <0.0001). The most prevalent InBD was von Willebrand disease (42.98%) with majority type 3VWD (86.4%). The second most prevalent was thrombasthenia (36.71%) and the majority had Glanzmann’s thrombosthenia (86.2%). Rare bleeding disorders (RBDs) were observed in 6.25% of patients and the most common factor deficiency was FVII. Conclusion: Consanguinity is high in patients with inherited bleeding disorders in Iraq, leading to emergence of life-threatening autosomal recessive inherited diseases. Genetic counselling is recommended besides education and awareness to minimize such rare illnesses in the community.

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“…By the same token, a meta-analysis of the published data revealed that the Leu34 allele provides moderate but significant protection [29]. Ethnicity has been reported as a major driver behind Val34Leu frequencies around the world [30,31].…”

Section: Discussionmentioning

confidence: 99%

Association of factor V Leiden R506Q, FXIIIVal34Leu, and MTHFR C677T polymorphisms with acute myocardial infarction

Golestani

Rahimi

Moridi

et al. 2022

Egypt J Med Hum Genet

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Background Acute myocardial infarction (AMI) is a leading cause of death and morbidity around the world. Although the association between thrombophilia and AMI is well-established, controversial data are present on the association between thrombophilic polymorphisms and AMI. The aim of this study was to investigate the association of three thrombophilic polymorphisms including factor V Leiden (FVL), MTHFRC677T (methylenetetrahydrofolate reductase), and Coagulation factor XIIIVal34Leu with AMI in East of Iran. Result There were no statistically significant differences between the patients and control groups in terms of the distributions of allelic and genotypic frequencies of FVL and FXIIIVal34Leu polymorphisms (P-value > 0.05). Subjects who carried CT genotype of MTHFR C677T polymorphism were at a 2.03-fold higher risk for AMI (P-value: 0.02, OR 1.76, 95% CI 1.07–2.75). Furthermore, patients with MTHFR 677CT (P-value < 0.001, β = - 0.90, 95% CI − 1.33, − 047) or 677CC (P-value < 0.001, β = - 1.04, 95% CI − 1.47, − 0.61) genotypes showed significantly Lower creatinine levels compared with patients having the MTHFR 677TT. No association was observed between the other remaining polymorphisms and AMI (P-value > 0.05). Conclusion Our findings showed that MTHFRC677T polymorphism could contribute to AMI susceptibility and increase creatinine levels in east Iran population. This was the first study to examine the association of these three polymorphisms with AMI in east Iran.

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Factor XIII Val34Leu polymorphism and risk of recurrent pregnancy loss in Iranian population: a case control study

Cited by 5 publications

References 34 publications

Polymorphisms of plasminogen activator iInhibitor-1 4G/5G, coagulation factor XIII Val34 Leu and angiotensin converting enzyme I/D impact on recurrent implantation failure

Polymorphisms of plasminogen activator iInhibitor-1 4G/5G, coagulation factor XIII Val34 Leu and angiotensin converting enzyme I/D impact on recurrent implantation failure

Inherited Bleeding Disorders in Iraq and Consanguineous Marriage

Association of factor V Leiden R506Q, FXIIIVal34Leu, and MTHFR C677T polymorphisms with acute myocardial infarction

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