Hypofibrinogenemia and the α-Fibrinogen Thr312Ala Polymorphism may be Risk Factors for Early Pregnancy Loss

Kamimoto, Yuki; Wada, Hideo; Itō, Makoto; Nakatani, Kaname; Sugiyama, Takashi; Osato, Kazuhiro; Murabayashi, Nao; Habe, Koji; Mizutani, Hitoshi; Matsumoto, Toshifumi; Ohishi, Kohshi; Ikeda, Tomoaki

doi:10.1177/1076029615594003

Cited by 9 publications

(4 citation statements)

References 19 publications

(25 reference statements)

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“…In a retrospective study of 795 cases of women with recurrent miscarriage, significant differences of the fibrinogen levels were observed [ 10 ]. In a cohort of 36 women with pregnancy loss, Kamimoto et al (2017) identified a surprisingly high number of five patients with reduced fibrinogen levels, median 110 mg/dl, caused by genetic abnormalities [ 11 ]. According to these findings, it might be that the role of fibrinogen disorders in the context of abortions and pregnancy complications is currently underestimated due to unawareness and, thus, lack of appropriate diagnostic work-up of these disorders in respective women.…”

Section: Discussionmentioning

confidence: 99%

Hypofibrinogenemia and miscarriage: report of a first successful pregnancy under fibrinogen substitution and short review of the literature

Sucker

Geisen

Schmitt³

et al. 2022

Arch Clin Cases

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Disorders of fibrinogen have been reported to be associated not only with bleeding and thrombosis but also with miscarriage. Here, we report the case of a woman with genetically determined hypofibrinogenemia and recurrent miscarriages who had a first successful pregnancy under fibrinogen substitution. Current knowledge on fibrinogen disorders and recurrent miscarriages is briefly summarized and discussed.

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Section: Discussionmentioning

confidence: 99%

Hypofibrinogenemia and miscarriage: report of a first successful pregnancy under fibrinogen substitution and short review of the literature

Sucker

Geisen

Schmitt³

et al. 2022

Arch Clin Cases

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“…Our findings are in concordance with the finding of Collet and colleagues (26), who have not found associations between Ala312 FGA variants and clots strength/porosity. Similarly, some studies showed no associations of Thr312Ala with ischemic stroke (IS) (27) or myocardial infarction (26), while others reported the association of this SNP with IS and MI ( 28), venous thromboembolism (VTE) (29)(30)(31), chronic thromboembolic pulmonary hyper tension (32), intracerebral haemorrhage (33), as well as for pregnancy loss and a hypercoagulable state in later pregnancy (34).…”

Section: Discussionmentioning

confidence: 99%

Association of fibrinogen and plasmin inhibitor, but not coagulation factor XIII gene polymorphisms with coronary artery disease

Bronić

Ferenčak²,

Bernat³

et al. 2021

J Med Biochemistry

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Background: In the final phase of cloth formation, fibri(noge)n constitutes frame whereas factor XIII (FXIII) active form is responsible for the covalent cross-linking of fibrin fibers and plasmin inhibitor (PI), thus contributing to clot stability. It could be expected that any change of coagulation factors’ structure affects the clot formation and modulate the atherothrombotic risk. The aim was to determine the frequency of four single nucleotide polymorphisms: (i) A>G in codon 312 of the fibrinogen α-chain gene (rs6050, Thr312Ala FGA), (ii) C>T at position 10034 of the 3´untranslated region in the fibrinogen γ-chain gene (rs2066865, 10034C>T FGG), (iii) C>T in codon 564 of the FXIII-A subunit gene (rs5982, Pro564Leu FXIII-A), and (iv) C>T in codon 6 of the plasmin inhibitor gene (rs2070863, Arg6Trp PI) in Croatian patients and their association with coronary artery disease (CAD). Methods: We performed the unrelated case-control association study on the consecutive sample of patients ≥18 years old, who had undergone coronary angiography for investigation of chest pain and suspected CAD. Cases were patients with confirmed CAD (N=201) and controls were the subjects with no CAD (N=119). Samples were genotyped using PCR-RFLP analysis. Results: Observed frequencies of the rare alleles of Thr312Ala FGA, 10034C>T FGG, Leu564Pro FXIII-A and Arg6Trp PI polymorphisms were 21%, 17%, 14%, 20%, respectively. Patients with 10034C> T FGG CC genotype had 3.5 times (95% CI 1.02-12.03) higher adjusted odds for CAD than patients with 10034C> T FGG TT genotype. Patients with Arg6Trp PI CC genotype had 3.86 times (95% CI 1.23-12.12) higher odds for CAD than patients with Arg6Trp PI TT genotype. No difference was observed regarding any other investigated polymorphism, Conclusion: Our finding suggests that 10034C>T FGG and Arg6Trp PI are associated with CAD.

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“…The AαA331 allele is associated with venous thromboembolism, pulmonary embolism, chronic thromboembolic pulmonary hypertension, atrial fibrillation, and spontaneous abortions at the beginning of pregnancy in women [ 84 , 86 , 87 , 88 , 89 , 90 ]. It is not associated with myocardial infarction, pulmonary thromboembolism, or stroke [ 84 , 87 , 91 ].…”

Section: Aαt331a Snpmentioning

confidence: 99%

Extension of the Human Fibrinogen Database with Detailed Clinical Information—The αC-Connector Segment

Sovová

Pecankova

Májek

et al. 2021

IJMS

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Fibrinogen, an abundant plasma glycoprotein, is involved in the final stage of blood coagulation. Decreased fibrinogen levels, which may be caused by mutations, are manifested mainly in bleeding and thrombotic disorders. Clinically relevant mutations of fibrinogen are listed in the Human Fibrinogen Database. For the αC-connector (amino acids Aα240–410, nascent chain numbering), we have extended this database, with detailed descriptions of the clinical manifestations among members of reported families. This includes the specification of bleeding and thrombotic events and results of coagulation assays. Where available, the impact of a mutation on clotting and fibrinolysis is reported. The collected data show that the Human Fibrinogen Database reports considerably fewer missense and synonymous mutations than the general COSMIC and dbSNP databases. Homozygous nonsense or frameshift mutations in the αC-connector are responsible for most clinically relevant symptoms, while heterozygous mutations are often asymptomatic. Symptomatic subjects suffer from bleeding and, less frequently, from thrombotic events. Miscarriages within the first trimester and prolonged wound healing were reported in a few subjects. All mutations inducing thrombotic phenotypes are located at the identical positions within the consensus sequence of the tandem repeats.

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Hypofibrinogenemia and the α-Fibrinogen Thr312Ala Polymorphism may be Risk Factors for Early Pregnancy Loss

Cited by 9 publications

References 19 publications

Hypofibrinogenemia and miscarriage: report of a first successful pregnancy under fibrinogen substitution and short review of the literature

Hypofibrinogenemia and miscarriage: report of a first successful pregnancy under fibrinogen substitution and short review of the literature

Association of fibrinogen and plasmin inhibitor, but not coagulation factor XIII gene polymorphisms with coronary artery disease

Extension of the Human Fibrinogen Database with Detailed Clinical Information—The αC-Connector Segment

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