MTHFR (C677T) polymorphism and PR (PROGINS) mutation as genetic factors for preterm delivery, fetal death and low birth weight: A Northeast Indian population based study

Tiwari, Diptika; Bose, Purabi Deka; Das, Sangeeta; Das, Chandana; Datta, Ratul; Bose, Sujoy

doi:10.1016/j.mgene.2014.12.002

Cited by 39 publications

(27 citation statements)

References 43 publications

(55 reference statements)

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“…Methylenetetrahydrofolate reductase (MTHFR) polymorphism(s) and adverse “obstetrical/perinatal outcome” relationship has been a matter of interest for a long time 1 , 2 . Likewise, the connections between MTHFR polymorphism(s) and repeated miscarriage, intrauterine growth retardation (IUGR), preterm delivery, preeclampsia, congenital abnormalities, fetal aneuploidies and ablation placenta has been reported already by various authors 3 , 4 , 5 , 6 , 7 . On the other hand, one must consider the chaotic nature and robustness of these relationship(s) in order to understand the biological rationale behind this “inherited folate metabolism disorder” and to have better management protocols 8 , 9 , 10 , 11 .…”

Section: Introductionmentioning

confidence: 91%

Methylenetetrahydrofolate Reductase Polymorphisms and Pregnancy Outcome

Turğal

Gümrük

Karaağaoğlu

et al. 2018

Geburtshilfe Frauenheilkd

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Introduction Aim of the study was to evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) polymorphisms on pregnancy outcome. Materials and Methods A total of 617 pregnancies of women who were investigated for MTHFR C677T and A1298C polymorphisms prior to pregnancy were included in the study. Cases were classified into “homozygous polymorphisms” (Group I), “heterozygous polymorphisms” (Group II), and patients without polymorphisms who functioned as controls (Group III). Patients with polymorphisms were assigned to a specific protocol at least 3 months before becoming pregnant. Administration of low molecular weight heparin (LMWH) was started very early during pregnancy. The Beksac Obstetrics Index (BOI) was used to estimate the obstetric risk levels for the different groups. Results We found that the early pregnancy loss (EPL) rate increased as MTHFR polymorphism complexity increased and that the early EPL rate was significantly higher in patients with MTHFR C677T polymorphism compared to patients with MTHFR A1298C polymorphism (p = 0.039). There were significant differences between the previous pregnancies of the patients in the 3 study groups in terms of perinatal complications and EPLs (p = 0.003 and p = 0.019). The BOI decreased as the severity of polymorphisms increased. An association between MTHFR polymorphisms and congenital malformations and chromosomal abnormalities was observed. We could not demonstrate any statistically significant difference between study groups when the 3 groups were compared with regard to the pregnancy outcomes under specific management protocols. Conclusion MTHFR polymorphisms are potential risk factors for adverse pregnancy outcomes.

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Section: Introductionmentioning

confidence: 91%

Methylenetetrahydrofolate Reductase Polymorphisms and Pregnancy Outcome

Turğal

Gümrük

Karaağaoğlu

et al. 2018

Geburtshilfe Frauenheilkd

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“…We first analyzed the association between the MTHFR C677T polymorphism and susceptibility to preterm delivery. Thirteen studies were included in the analysis, involving 3305 mothers with preterm delivery and 19 653 normal controls (Table ) . A random‐effects model was applied as a result of heterogeneity (I 2 > 50%).…”

Section: Resultsmentioning

confidence: 99%

“…Previous studies on the associations between MTHFR gene polymorphisms and preterm delivery have produced inconsistent results, which may have been caused by insufficient sample populations in each study . Therefore, in the present research, we performed a comprehensive meta‐analysis to synthesize study results of the relationship between MTHFR polymorphisms and preterm delivery, as small‐scale research studies may not have detected all associations.…”

Section: Introductionmentioning

confidence: 99%

Systematic review and meta‐analysis of the associations between maternal methylenetetrahydrofolate reductase polymorphisms and preterm delivery

Fang

Jiang

Liu

et al. 2018

J of Obstet and Gynaecol

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“…Homozygous MTHFR 677T mutations and Factor V Leiden mutation were significantly more prevalent in women with unsuccessful IVF procedure, compared to control women (SAFDARIAN et al 2014). It is also has been shown that MTHFR 677 mutation is a risk factor for preterm delivery, fetal death and low birth weight (TIWARI et al 2015). Some studies that have tested both loci together find that MTHFR 677 and 1298 polymorphisms are associated with recurrent pregnancy loss and miscarriage (PARVEEN et al 2013, YANG et al 2016.…”

Section: Discussionmentioning

confidence: 99%

“…Recognized as an important predictive genetic parameter in women with different complications during pregnancy (fetal loss, intrauterine growth restriction, infertility, unsuccessful IVF procedure), the polymorphism 677 C>T in MTHFR gene is widely tested in maternity clinics (KOVAC et al 2010, SAFDARIAN et al 2014, CORIU et al 2014, TIWARI et al 2015. However, the second important locus, 1298A>C, is still not routinely tested in many laboratories.…”

Section: Introductionmentioning

confidence: 99%

Should MTHFR 1298 A>C be tested together with MTHFR 677 C>T polymorphism in women with reproductive challenges?

Djurovic

Stojković

Todorovic³

et al. 2017

Genetika

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Methylenetetrahydrofolate reductase (MTHFR) plays a critical role in the folate metabolism. The polymorphism 677C>T of the MTHFR gene, producing thermolabile enzyme with decreased function, is widely studied and associated with many conditions. Additionally, it has been shown that another polymorphism, 1298A>C, also reduces the activity of this enzyme, although to a lesser extent. The aim of this study is to evaluate the clinical informativeness of testing both MTHFR polymorphisms. Genomic DNA, were extracted from peripheral blood of 180 female patients with pregnancy complications and 183 healthy female controls, and genotyped for MTHFR 677C>T and 1298A>C loci, using TaqMan assays. Our study found similar frequency of alleles and genotypes between two groups. Based on MTHFR 677C>T genotype, 11.7% of patients homozygous for this mutation were under the possible risk. When the position 1298 was included in the testing, 22.8% of the patients were heterozygous for both polymorphisms. Additionally, 8.9% of the patients were homozygous only for the MTHFR 1298 mutation. Although, there was no differences compared to healthy control (p>0.05), 43% of patients were found to have elevated risk which is about four time higher than results with only MTHFR 677C>T genotyping. After obtaining information for the 677 position, testing for the second polymorphism (1298A>C) should be 378

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MTHFR (C677T) polymorphism and PR (PROGINS) mutation as genetic factors for preterm delivery, fetal death and low birth weight: A Northeast Indian population based study

Cited by 39 publications

References 43 publications

Methylenetetrahydrofolate Reductase Polymorphisms and Pregnancy Outcome

Methylenetetrahydrofolate Reductase Polymorphisms and Pregnancy Outcome

Systematic review and meta‐analysis of the associations between maternal methylenetetrahydrofolate reductase polymorphisms and preterm delivery

Should MTHFR 1298 A>C be tested together with MTHFR 677 C>T polymorphism in women with reproductive challenges?

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