Hyperhomocysteinemia and recurrent early pregnancy loss: a meta-analysis

Nelen, W.L.D.M.; Blom, Henk J.; Steegers, Eric A.P.; Heijer, Martin den; Eskes, T.K.A.B.

doi:10.1016/s0015-0282(00)01595-8

Cited by 282 publications

(158 citation statements)

References 21 publications

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“…The diagnostic procedure included paternal and maternal karyotype, uterine sonography, TORCH infection study (Toxoplasmosis, Rubella, Cytomegalovirus, Herpes Simplex virus type II and Listeria), assessment of hormonal status, IgM and IgG anticardiolipin, and antiphospholipids antibodies assay. According to other studies, thrombophilia could be also a determinant factor in RPL [11]. However, the scales of the current study did not allow investigation of this aspect and it was postponed to the future works.…”

Section: Patients and Samplesmentioning

confidence: 82%

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

Seyedhassani

Houshmand

Kalantar

et al. 2010

J Assist Reprod Genet

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Purpose Repeated pregnancy loss (RPL) occurs in 1 out of 300 couples, and the cause of about 50% of them remains idiopathic. Mitochondria have an important role in human development through ATP production and their involvement in apoptosis. Methods 96 RPL and 96 control females were used to investigate the frequency of deletions and point mutations in the displacement loop (D-loop) on mitochondria. Multiplex PCR and DNA sequencing methods were used to detect possible variations in the mitochondrial DNA (mtDNA).Results No deletions but a high frequency of point mutations were found in RPL females; among 129 variations observed in RPL, 22 mutations were significant (P<0.05) and the insertion of C in nucleotide 114 was novel. Conclusion High rate of mutations in D-loop of mtDNA was observed in maternal blood, a fact that may have a direct or indirect role in inducing RPL. The results can be used in the assessment of RPL and designing possible treatments for improving assisted reproduction.

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Section: Patients and Samplesmentioning

confidence: 82%

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

Seyedhassani

Houshmand

Kalantar

et al. 2010

J Assist Reprod Genet

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“…20 The potential associations between MTHFR genotype status and a number of medical complications have been evaluated using methodologies such as case-control, cohort, Mendelian randomization, and meta-analysis. A modest positive association has been found between the MTHFR "thermolabile" polymorphism and many different medical complications, including, but not limited to, thromboembolic disease (in non-North-American populations only), 21,22 stroke, [23][24][25][26][27] aneurysm, 28 peripheral artery disease, 29 migraine, 30 hypertension, 31,32 recurrent pregnancy loss, 33,34 male infertility, 35,36 risk for offspring with neural tube defects, 37,38 certain cancers, [39][40][41] neuropsychiatric disease, 42 and chemotherapy toxicity. 43,44 …”

mentioning

confidence: 99%

ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

Hickey

Curry

Toriello

2013

Genetics in Medicine

131

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“…1 Flow chart shows study selection procedure. Twenty-five case-control studies were included in present meta-analysis was associated with elevated plasma homocysteine level, increased risk of arterial stiffness [58] and women with elevated total homocysteine concentrations showed a significant association with defective chorionic villous vascularization [59][60][61]. In embryonic development during pregnancy, the embryo survives and grows by stimulating its own blood supply through angiogenesis.…”

Section: Discussionmentioning

confidence: 99%

Methylenetetrahydrofolate Reductase C677T Polymorphism and Recurrent Pregnancy Loss Risk in Asian Population: A Meta-analysis

Rai

2016

Ind J Clin Biochem

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The C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene was implicated to be associated with thrombophilia due to its role in catalyzing the formation of 5-methylenetetrahydrofolate, a co-substrate for the conversion of homocysteine to methionine. Several case-control studies were investigated MTHFR C677T polymorphism as risk for recurrent pregnancy loss (RPL). These studies rendered contradictory results, some indicating that the polymorphism is associated with the risk of RPL whereas others concluded there is no association. To shed light on these inconclusive findings, a meta-analysis of all available studies published from Asian population relating the C677T polymorphism to the risk of RPL was conducted. The following electronic databases were searched without language restrictions: PubMed, Google Scholars, Elsevier and Springer Link up to December, 2015. Meta-analysis was performed using MetaAnalyst and Mix version 1.7. Meta-analysis results suggested that MTHFR C677T polymorphism contributed to the increased RPL risk in Asian population using all five genetic models (for T vs. C: OR 1.35, 95 % CI 1.09-1.68, p = 0.009; for TT ? CT vs. CC: OR 1.44, 95 % CI 1.14-1.82, p = 0.006; for CT vs. CC: OR 1.39, 95 % CI 1.07-1.8, p = 0.01; for TT vs. CC: OR 1.79, 95 % CI 1.23.2.6, p = 0.007; for TT vs. CT ? CC: OR 1.61, 95 % CI 1.02-2.56, p = 0.04). In conclusion, this meta-analysis demonstrates a strong association between the MTHFR C677T variant and RPL in Asian population and raising the importance of the use of folate in its treatment and prevention.

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Hyperhomocysteinemia and recurrent early pregnancy loss: a meta-analysis

Cited by 282 publications

References 21 publications

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

Methylenetetrahydrofolate Reductase C677T Polymorphism and Recurrent Pregnancy Loss Risk in Asian Population: A Meta-analysis

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