Dataset Information

C677T polymorphism increases the risk of early spontaneous abortion.

ABSTRACT: PURPOSE:To investigate the relationship of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in male population having spouses with early spontaneous abortion. METHODS:A total of 345 males whose spouses had at least one early spontaneous abortion were included in the study group, and 145 males who planned to have a second child were included in the control group. Semen was collected in a sterile cup by masturbation. After liquefaction, the sperm concentration and forward motility sperm rate (PR) were obtained. The genomic DNA was extracted from peripheral vein, followed by MTHFR C677T polymorphism detection through PCR-gold magnetic nanoparticle chromatography. RESULTS:The numbers of alleles and genotypes of MTHFR in the case group were 303 (C), 387 (T), 64 (CC), 175 (CT), and 106 (TT) cases, respectively. The numbers of allele and genotype of MTHFR in the control group were 167 (C), 123 (T), 145 (CC), 65 (CT), and 29 (TT) cases. There were significant differences in the distribution frequency of genotypes (?2?=?17.005, P?=?0.000) and alleles (?2?=?15.295, P?=?0.000) between the two groups. For cases with more spontaneous abortion, more cases had CT and TT phenotypes. Participants with genotype CT had the highest sperm concentration and PR in both groups (P?

SUBMITTER: Liu Y

PROVIDER: S-EPMC6707973 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature

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C677T polymorphism increases the risk of early spontaneous abortion.

Liu Yongjie Y Zhang Fan F Dai Liang L

Journal of assisted reproduction and genetics 20190617 8

<h4>Purpose</h4>To investigate the relationship of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in male population having spouses with early spontaneous abortion.<h4>Methods</h4>A total of 345 males whose spouses had at least one early spontaneous abortion were included in the study group, and 145 males who planned to have a second child were included in the control group. Semen was collected in a sterile cup by masturbation. After liquefaction, the sperm concentration and ...[more]

PMID: 31209737

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Project description:Spontaneous abortion (SA) is a common adverse pregnancy event with unclarified pathogenesis and limited therapeutic efficiency. Although most SA cases with the euploid embryo(s) are associated with immunological factors, the contribution of low-density granulocyte (LDG) in SA pathogenesis is rarely reported. This study aimed to investigate the serial characteristics and possible contribution of LDG and their subpopulations in early pregnancy, especially in early SA. Unpregnant (UP), normally pregnant (NP), and SA women were recruited, and the peripheral blood and endometrium/decidua were collected for LDG isolation and histological observation. The percentage, phenotype, and subpopulations of LDG were analyzed via flow cytometric analysis, and the ability of Nets formation was assessed by immunofluorescent and immunohistochemical assays. As a result, 43 participants were enrolled, including 10 UP, 15 NP, and 18 SA women. Compared with the UP group, the LDG percentage in peripheral blood mononuclear cells (PBMCs) and decidual immune cells (DICs) increased in the NP group, while the loss of this increase was observed in the SA group. Meanwhile, CD16int/- cell percentage in peripheral blood LDG (PB-LDG) increased in the NP and SA groups, and insufficient activation of CD16hi PB-LDG characterized by reduced CD11b expression was discovered in the SA group. Moreover, the LDG percentage in DICs was higher than that in PBMCs, and the decidual LDG (D-LDG) showed a surface marker expression profile that is easier to be activated in the pregnant cohort (NP + SA women). Finally, increased decidual Nets formation was observed in the SA group compared with the NP group, and more Nets formation was detected in D-LDG of NP and SA women following PMA stimulation. Overall, LDG participates in the maintenance of early pregnancy, while dysregulated LDG is responsible for early SA, providing novel potential targets for further exploration of SA pathogenesis and therapeutics.

Project description:Study questionIs caffeine and caffeinated beverage consumption associated with the risk of spontaneous abortion (SAB)?Summary answerWhile preconceptional caffeine consumption was not materially associated with an increased risk of SAB, consumption during early pregnancy was associated with a small increased risk of SAB, although the relation was not linear.What is known alreadyCaffeine has been hypothesized as a risk factor for SAB since the 1980s; however, results from previous studies have been conflicting.Study design, size, durationThis prospective cohort study included 5132 Danish women planning pregnancy and enrolled from 2007 to 2010.Participants/materials, setting, methodsParticipants were women who conceived after entry into the Snart-Gravid cohort and who were aged 18-40, in a stable relationship with a male partner, and did not use fertility treatments to conceive. Women reported their daily caffeine and caffeinated beverage consumption on questionnaires before conception and during early pregnancy. All exposure measurements were prospective with respect to outcome ascertainment. We estimated hazard ratios (HRs) of SAB for categories of caffeine consumption in milligrams (mg) per day and the corresponding 95% confidence intervals (CIs) using Cox proportional hazards regression models with gestational weeks as the time scale.Main results and the role of chanceThere were 732 women (14.3%) who were identified as having a SAB. In the preconceptional period, caffeine consumption was not materially associated with SAB risk (HR comparing ≥300 with <100 mg/day: 1.09; 95% CI: 0.89, 1.33). In early pregnancy, the HRs for 100-199, 200-299 and ≥300 mg/day of caffeine consumption were 1.62 (95% CI: 1.19, 2.22), 1.48 (95% CI: 1.03, 2.13) and 1.23 (95% CI: 0.61, 2.46), respectively, compared with that for <100 mg/day.Limitations, reasons for cautionThe observed results may be affected by non-differential exposure misclassification, reverse causation and residual confounding.Wider implications of the findingsThis is the largest study to date of prospectively measured, preconception caffeine consumption and risk of SAB. We were able to reduce the likelihood of differential left truncation bias and recall bias present in other analyses.Study funding/competing interestsSnart-Gravid was funded by the NICHD (R21-050264). Dr. Hahn's work was funded in part by the BU Reproductive, Perinatal, and Pediatric Epidemiology Training Grant NIH #T32HD052458. There are no competing interests.

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C677T polymorphism increases the risk of early spontaneous abortion.

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C677T polymorphism increases the risk of early spontaneous abortion.

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