Genetic variations of MTHFR gene and their association with preterm birth in Korean women

Hwang, In Wook; Kang, Young Hwa; Kwon, Bit Na; Hong, Jun Ho; Han, Soon Woo; Kim, Jong Soo; Park, Jin Wan; Jin, Han Jun

doi:10.1016/j.medici.2018.01.001

Cited by 11 publications

(7 citation statements)

References 26 publications

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“…However, a case-control study nested in a multicenter cohort found MTHFR C677T was positively associated with PTB and LBW in India, in which folate status was not reported. Extremely, very, and moderately PTB showed higher frequency of MTHFR C677T mutation compared to term delivery cases [ 20 ]. A Japanese study suggested that maternal MTHFR C677T, not MTHFR A1298C was independently associated with improvement in infant birth weight in the background of 16.4 nmol/L serum folate [ 25 ].…”

Section: Discussionmentioning

confidence: 99%

“…The SCOPE study found no significant gene-nutrient interactions between maternal MTRR A66G, MTR A2756G, and folic acid use, and their association with PTB and SGA [ 42 , 43 ], which aligned with our finding of MTRR and MTR SNPs. Tiwari found that MTRR A66G was not related to PTB on the background of high-level folate, but homocysteine concentration did [ 20 ]. Another nested case-control study carried out by Engel found that MTRR A66G was positively related to PTB in the white population, but not in the black population regardless of folate intake level [ 39 ].…”

Section: Discussionmentioning

confidence: 99%

“…Recently, both Indian and Japanese studies suggested that folic acid metabolic enzymes-related SNPs may be related to the risks of PTB and LBW [ 17 , 18 ]. However, the existing SNP studies in PTB, LBW, and SGA were limited and the results were inconsistent [ 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 ]. A study showed that the lower level of folate and unfavorable mutations contributed to PTB, and some other outcomes including hyperhomocysteinaemia [ 28 ].…”

Section: Introductionmentioning

confidence: 99%

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Relationships between Maternal Gene Polymorphisms in One Carbon Metabolism and Adverse Pregnancy Outcomes: A Prospective Mother and Child Cohort Study in China

et al. 2022

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Background: To investigate relationships between five single nucleotide polymorphisms (SNP) in four maternal genes involved in one carbon metabolism and adverse pregnancy outcomes, including preterm birth (PTB), low birth weight (LBW), and small-for-gestational-age (SGA). Methods: This was a prospective mother and child cohort study in Wuqiang, China. Pregnant women (n = 939) were recruited from Jun 2016 to Oct 2018. Pregnancy outcomes (PTB, LBW, and SGA) were extracted from medical records and other information including age at childbearing, maternal education level, gravidity, parity, pre-pregnancy weight and height was collected by using a structured questionnaire. The maternal serum folate concentration was measured by using Abbott Architect i2000SR chemiluminescence analyzer in the first prenatal care visit. DNA genotyping of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase reductase (MTRR) A66G, methionine synthase (MTR) A2756G, and thymidylate synthetase (TYMS) rs3819102 was processed by Sequenom MassARRAY iPLEX Platform. Univariate and multivariate logistics regression analysis were used to test the relationships between 5 SNPs and PTB, LBW, SGA. Results: Totally, 849 dyads of women and infants were included in the analysis. The prevalence of PTD, LBW, and SGA were 3.76%, 1.58%, and 5.31% respectively. The homozygote frequencies of MTHFR C677T, MTHFR A1298C, MTRR A66G, MTR A2756G, and TYMS rs3819102 were 44.2%, 1.4%, 6.7%, 1.3%, and 3.2%, and the alt allele frequencies were 66.1%, 10.8%, 24.9%, 10.5%, and 20.5% respectively. The average serum folate concentration was 11.95 ng/mL and the folate deficiency rate was 0.47%. There were no significant associations between MTHFR C677T, MTHFR A1298C, MTRR A66G, MTR A2756G, TYMS rs3819102 alleles and PTD, LBW, SGA (p > 0.05). Conclusions: In the population with adequate folate status and low prevalence of adverse pregnancy outcomes, MTHFR C677T, MTHFR A1298C, MTRR A66G, MTR A2756G, TYMS rs3819102 alleles may not be related to PTD, LBW, and SGA.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Relationships between Maternal Gene Polymorphisms in One Carbon Metabolism and Adverse Pregnancy Outcomes: A Prospective Mother and Child Cohort Study in China

et al. 2022

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“…Studies have been conducted to evaluate the association between MTHFR genetic polymorphism rs1801133 and pregnancy outcomes. Some have found that the mutated T allele of MTHFR rs1801133 was associated with a higher risk of adverse outcomes, including spontaneous abortion, premature birth, and stillbirth (2,11,(31)(32)(33).…”

Section: Discussionmentioning

confidence: 99%

Association of MTHFR 677C>T polymorphism with pregnancy outcomes in IVF/ICSI-ET recipients with adequate synthetic folic acid supplementation

Zhang

et al. 2022

BST

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Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphism rs1801133 (677C>T) will decrease the utilization of folate. Folate deficiency and its resulting homocysteine (HCY) accumulation can impair female fertility. Folic acid (FA) supplementation is necessary in pregnant women who are undergoing in-vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) -embryo transfer (ET), and especially in women with MTHFR rs1801133 C-to-T mutations. At present, affordable and accessible synthetic FA is mainly used. However, some studies have suggested that 5-methylenetetrahydrofolate (5-MTHF), a type of active FA, may be more suitable for women with the MTHFR 677C>T polymorphism, since it is safer and more effective. This retrospective study aimed to evaluate whether the MTHFR rs1801133 gene polymorphism is related to the pregnancy outcomes of IVF/ICSI-ET recipients after sufficient supplementation with FA instead of 5-MTHF. Data on 692 women undergoing IVF/ICSI-ET and taking adequate FA were collected. Participant characteristics were compared using the Kruskal-Wallis test and Pearson chi-square test. Logistic regressions were used to calculate the odds ratio (OR) and 95% confidence interval (95% CI), after adjusting for age, BMI, method of fertilization, method of embryo transfer and number of embryos transferred. An additive model (T/T vs.

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“…Reduced MTHFR activity has a negative effect on reproductive functions as oocyte and embryo development, endometrial receptivity, embryo implantation, and the maintenance of pregnancy [10,11]. Evidences showed that MTHFR 677C > T is associated with ovarian reserve, implantation failure, pregnancy loss, human subfertility and infertility, oocyte maturation, embryo aneuploid [12][13][14], MTHFR 677C > T mutation is also risk factor for premature ovarian failure [15], recurrent miscarriage and implantation failures [14] preterm birth [16]. However, the role of MTHFR C677T genotype on ART outcomes remained unclear.…”

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confidence: 99%

Maternal MTHFR C677T polymorphism does not affect live birth rate following IVF in Chinese Han population: a retrospective cohort study of 1265 women

Zeng¹,

Xie²,

He³

et al. 2020

Preprint

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Backgrounds: MTHFR is a key enzyme for folic acid metabolism and is important for reproduction. However, whether MTHFR C677T genotype affect live birth rate following IVF is unknown. This study aims to evaluate the association of MTHFR C677T polymorphism and live birth rate following IVF. Methods: This is a retrospective cohort study of 1265 women undergoing first IVF -ET cycle (2015-2017) in Reproductive Medicine Center of Xiangya Hospital. The patients were followed for a minimum of 2 years and maximum of 5 years, the observation endpoint is live birth, or all the embryos derived from the first stimulation cycle are transferred. The study population was divided into three groups based on MTHFR C677T genotype (MTHFR 677CC, MTHFR 677CT, MTHFR 677TT). The primary outcomes are live birth rate and cumulative live birth. The secondary outcomes including laboratory parameters (number of oocytes, number of 2PNs, number of available embryos, number of good embryos) and clinical parameters (chemical pregnancy rate, clinical pregnancy rate, implantation rate, preclinical pregnancy loss rate, miscarriage rate). The logistic regression analysis with different adjusted models were used to analyze the association of MTHFR C677T genotype and live birth. Results: Among the 1265 participants, 541 were MTHFR 677CC genotype, 585 were MTHFR 677CT genotype, and 139 were MTHFR 677TT genotype. The live birth rate was 43.6%, 44.8%, and 40.3% (p-value = 0.63), and the cumulative live birth rate per stimulation cycle was 54.7%, 53.5%, and 51.8% (p-value =0.81) in MTHFR 677CC group, MTHFR 677CT group, and MTHFR 677TT group, respectively. The secondary laboratory outcomes and clinical outcomes were not significantly different between the three groups. Logistic regression analysis showed no significant association of MTHFR C677T genotype and live birth whether in model 1 (p-value for trend = 0.63) , model 2 (p-value for trend = 0.63), or model 3 (p-value for trend = 0.59). Conclusions: MTHFR C677T genotype does not significantly affect live birth rate and cumulative live birth rate following first IVF in Chinese Han couples.

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Genetic variations of MTHFR gene and their association with preterm birth in Korean women

Abstract: Our findings suggested that the MTHFR gene 677 C/T and 1298 A/C polymorphisms might have protective effects for preterm birth in the Korean women.

Cited by 11 publications

References 26 publications

Relationships between Maternal Gene Polymorphisms in One Carbon Metabolism and Adverse Pregnancy Outcomes: A Prospective Mother and Child Cohort Study in China

Relationships between Maternal Gene Polymorphisms in One Carbon Metabolism and Adverse Pregnancy Outcomes: A Prospective Mother and Child Cohort Study in China

Association of MTHFR 677C>T polymorphism with pregnancy outcomes in IVF/ICSI-ET recipients with adequate synthetic folic acid supplementation

Maternal MTHFR C677T polymorphism does not affect live birth rate following IVF in Chinese Han population: a retrospective cohort study of 1265 women

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