Genetic background and risk of postpartum haemorrhage: results from an Italian cohort of 3219 women

Biguzzi, Eugenia; Franchi, Franca; Acaia, Barbara; Ossola, Wally; Nava, Ugo; Paraboschi, Elvezia Maria; Asselta, Rosanna; Peyvandi, Flora

doi:10.1111/hae.12514

Cited by 12 publications

(6 citation statements)

References 35 publications

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“…In an Italian study of 3,219 women with postpartum hemorrhage, the alternate allele was associated with postpartum hemorrhage compared with controls (OR: 0.79, CI: 0.69-0.90). 55 Mechanistic studies have shown that rs1361600 decreases promoter activity and constitutive expression of F3, 45,47 consistent with the proposed mechanism for rs1361600 in postpartum hemorrhage. Furthermore, the effects of rs1361600 vary by tissue type as detailed later.…”

Section: Targeted Clinical Investigation Of Human F3 Snpssupporting

confidence: 67%

Human Genetic Variation in F3 and Its Impact on Tissue Factor–Dependent Disease

Park

Brake

Schulman

2023

Semin Thromb Hemost

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Tissue factor (TF) is the primary initiator of blood coagulation in humans. As improper intravascular TF expression and procoagulant activity underlie numerous thrombotic disorders, there has been longstanding interest in the contribution of heritable genetic variation in F3, the gene encoding TF, to human disease. This review seeks to comprehensively and critically synthesize small case–control studies focused on candidate single nucleotide polymorphisms (SNPs), as well as modern genome-wide association studies (GWAS) seeking to discover novel associations between variants and clinical phenotypes. Where possible, correlative laboratory studies, expression quantitative trait loci, and protein quantitative trait loci are evaluated to glean potential mechanistic insights. Most disease associations implicated in historical case–control studies have proven difficult to replicate in large GWAS. Nevertheless, SNPs linked to F3, such as rs2022030, are associated with increased F3 mRNA expression, monocyte TF expression after endotoxin exposure, and circulating levels of the prothrombotic biomarker D-dimer, consistent with the central role of TF in the initiation of blood coagulation.

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Section: Targeted Clinical Investigation Of Human F3 Snpssupporting

confidence: 67%

Human Genetic Variation in F3 and Its Impact on Tissue Factor–Dependent Disease

Park

Brake

Schulman

2023

Semin Thromb Hemost

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“…The association between genetic disorders of GP1BA and Bernard-Soulier syndrome (also known as giant platelet syndrome), which is characterized by a low platelet count and giant platelets, has been reported in Iranian, Indian and Kuwaiti populations, even though the gene variants or frameshifts are located in different regions of the GP1BA sequence (27)(28)(29)(30). Furthermore, a GP1BA polymorphism has been associated with post-partum hemorrhage (31). In the present study, the same deletion of the GP1BA gene [c.1322_1344del23, p.Ser441TyrfsTer (frameshift and termination), rs770089708] was detected in the proband and the proband's sister.…”

Section: Resultsmentioning

confidence: 99%

Identification of mutations in SLC4A1, GP1BA and HFE in a family with venous thrombosis of unknown cause by next‑generation sequencing

et al. 2018

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Various risk factors, including high age, female gender, obesity and certain genetic defects have been linked to venous thrombosis. A Taiwanese family with venous thrombosis of unknown cause were enrolled in the present study. In this pedigree, two women without any specific underlying diseases suffered from venous thrombotic events at the same age. No specific risk factors or coagulation abnormalities were identified. The main proband's younger brother also had intestinal arterial thrombosis at 54 years of age. Therefore, it was hypothesized that familial genetic defects may be the cause of venous thrombosis within this family. Blood samples collected from certain members of this pedigree were subjected to whole-exome sequencing, and three genetic variants were identified, including a missense variant of solute carrier family 4 member 1 (SLC4A1) (c.388G>A), a deletion on glycoprotein Ib platelet α subunit (GP1BA) (c.1322_1344del23) and an insertion in the splice site of homeostatic iron regulator (HFE). To date, none of these three genetic variants have been reported to be associated with venous thrombosis, to the best of our knowledge. The present study suggests that these genetic variants of SLC4A1, GP1BA and HFE may be associated with venous thrombosis in an Asian pedigree.

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“…Biological differences may influence the effect of race or ethnicity disparities on PPH. A previous study attempting to identify genetic background that influences the PPH reported that the gene polymorphism carries a protective effect against PPH [ 45 ]. Because PPH incidence depends on various factors; genetic predisposition such as a defect in coagulation or tissue elasticity might also lead to higher PPH incidence in different races or ethnicities [ 46 ].…”

Section: Discussionmentioning

confidence: 99%

Risk Factors for Postpartum Hemorrhage in a Thai–Myanmar Border Community Hospital: A Nested Case-Control Study

Thepampan¹,

Eungapithum²,

Tanasombatkul

et al. 2021

IJERPH

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Postpartum hemorrhage (PPH) is a common complication of pregnancy and a global public health concern. Even though PPH risk factors were extensively studied and reported in literature, almost all studies were conducted in non-Asian countries or tertiary care centers. Our study aimed to explore relevant risk factors for PPH among pregnant women who underwent transvaginal delivery at a Thai–Myanmar border community hospital in Northern Thailand. An exploratory nested case-control study was conducted to explore risk factors for PPH. Women who delivered transvaginal births at Maesai hospital from 2014 to 2018 were included. Two PPH definitions were used, which were ≥ 500 mL and 1000 mL of estimated blood loss within 24 h after delivery. Multivariable conditional logistic regression was used to identify significant risk factors for PPH and severe PPH. Of 4774 women with vaginal births, there were 265 (5.55%) PPH cases. Eight factors were identified as independent predictors for PPH and severe PPH: elderly pregnancy, minority groups, nulliparous, previous PPH history, BMI ≥ 35 kg/m2, requiring manual removal of placenta, labor augmentation, and fetal weight > 4000 gm. Apart from clinical factors, particular attention should be given to pregnant women who were minority groups as PPH risk significantly increased in this population.

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Genetic background and risk of postpartum haemorrhage: results from an Italian cohort of 3219 women

Cited by 12 publications

References 35 publications

Human Genetic Variation in F3 and Its Impact on Tissue Factor–Dependent Disease

Human Genetic Variation in F3 and Its Impact on Tissue Factor–Dependent Disease

Identification of mutations in SLC4A1, GP1BA and HFE in a family with venous thrombosis of unknown cause by next‑generation sequencing

Risk Factors for Postpartum Hemorrhage in a Thai–Myanmar Border Community Hospital: A Nested Case-Control Study

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