Prevalent genotypes of methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) in spontaneously aborted embryos

Bae, Jang–Ho; Shin, Seung Joo; Hee, Sun; Choi, Dong Hee; Lee, Suman; Kim, Nam Keun

doi:10.1016/j.fertnstert.2006.06.027

Cited by 24 publications

(21 citation statements)

References 18 publications

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“…However, in agreement with our result, a recent study revealed that the MTHFR 677 CT heterozygous genotype, rather than the homozygous CC genotype, is associated with increased chances of having had a previous IVF pregnancy and a live birth in the current IVF cycle (31). Furthermore, spontaneously aborted embryos have been shown to exhibit a significantly higher frequency of the MTHFR 677 CC wild-type genotype and a lower frequency of the heterozygous CT genotype compared with child and adult control groups (32). Correspondingly, the MTHFR 677 T allele has been suggested to increase embryo viability in the presence of an adequate folate-containing diet, based on the observation that the T allele frequency has risen in the Spanish population over the years (33).…”

Section: Figuresupporting

confidence: 92%

Variations in folate pathway genes are associated with unexplained female infertility

Altmäe

Stavréus-Evers

Ruiz

et al. 2010

Fertility and Sterility

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Section: Figuresupporting

confidence: 92%

Variations in folate pathway genes are associated with unexplained female infertility

Altmäe

Stavréus-Evers

Ruiz

et al. 2010

Fertility and Sterility

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“…The MTHFR gene C677T polymorphism (MTHFR C677T) causes an amino-acid change from alanine to valine and results in the enzyme becoming thermolabile and half decreased activity. 1 This polymorphism is the most common genetic cause of hyperhomocysteinemia, 2 which may causally associate with diseases, such as birth defects, [3][4][5] cardiovascular disease, 6,7 schizophrenia and Alzheimer's disease. 8 Interestingly, this polymorphism is associated with elevated homocysteine levels only in cases of low folic acid intake.…”

Section: Introductionmentioning

confidence: 99%

Is the prevalence of MTHFR C677T polymorphism associated with ultraviolet radiation in Eurasia?

et al. 2012

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The methylenetetrahydrofolic acid reductase (MTHFR) C677T polymorphism causes an amino-acid change from alanine to valine and results in the enzyme becoming thermolabile and half decreased activity. Its prevalence varies among global population. We collected data about MTHFR C677T polymorphism prevalence from epidemiology studies, as well as ultraviolet (UV) radiations and some other climatological factors from the internet. The results of the correlation and quadric regression showed that there was inverse U-shape relationship between T allele frequency and UV radiation. The explanatory power of UV radiation was stronger than latitude and all climatological factors. Our results supported the hypothesis that the distribution pattern of MTFHR C677T polymorphism in Eurasia might be the result of interaction of genetic and environmental natural selection, especially the UV radiation.

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“…It was figured out that there was a tendency towards the pregnancy loss if both fetus and mother carry the same mutation. Based on no information about the verification of the origin of the materials on this report and the others, the results could not be considered completely accurate (12,17,21,22). In our study after confirmation of the fetal tissues in terms of MCC, trombophilic status of the fetal tissues were searched and FV Leiden mutation was detected in heterozygous manner in two of ten materials and they both inherited maternally.…”

Section: Gmjmentioning

confidence: 75%

Thrombophilic Status of Extracted Fetal Tissues of Spontaneously Aborted Embroys

2017

GMJ

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Objective:The reports about Factor V (FV) Leiden, Factor II (FII) G20210A and Methylenetetrahydrofolate reductase (MTHFR) C677T gene mutations of parents and fetal viability are frequently encountered in the literature, despite the fetal side of thrombophilia is scant. To clarify the three common thrombophilic gene mutations of the spontaneously aborted embryos, an accurate algorithm was followed to extract the fetal tissues and then the mutations were searched. Material and Methods:70 spontaneous abortion materials were included to the study and all were karyotyped. Cytogenetically abnormals were excluded from the study. To extract the fetal tissues, amplifications of sex determination region of chromosome-Y (SRY) gene and genotypings were performed, respectively. Extracted fetal tissues of spontaneous aborted embroys and parents were screened for the thrombophilic gene mutations via electronic microarray. Results:After excluding chromosomally abnormal and maternally contaminated ones totally ten fetal tissues were screened for the FII G20210A, FV Leiden and MTHFR C677T gene mutations, and two carry F II G20210A and F Leiden heterozygote mutations, and six carry heterozygote forms of MTHFR C677T. Conclusion:The present study performed on the limited number of abortion materials, has a value for distinguishing the fetal tissues before analyzing the three common mutation of thrombophilic genes which make the results are very substantial.

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Prevalent genotypes of methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) in spontaneously aborted embryos

Cited by 24 publications

References 18 publications

Variations in folate pathway genes are associated with unexplained female infertility

Variations in folate pathway genes are associated with unexplained female infertility

Is the prevalence of MTHFR C677T polymorphism associated with ultraviolet radiation in Eurasia?

Thrombophilic Status of Extracted Fetal Tissues of Spontaneously Aborted Embroys

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