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

Fang, Qiwen; Jiang, Yu-Long; Liu, Zhenqiu; Zhang, Zhijie; Zhang, Tiejun

doi:10.1111/jog.13566

Cited by 4 publications

(4 citation statements)

References 25 publications

(48 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A number of retrospective studies have found that the CT heterozygous mutation of the MTHFR gene retains approximately 60% of its enzymatic activity, while the homozygous TT mutation retains only 10%-20% of its enzymatic activity (Dai et al, 2021). However, the vitamin D and niacin levels in the TT genotype are significantly lower, and the levels of homocysteine are significantly higher, and in contrast to the CT genotype, the TT genotype is linked to a higher risk of preterm birth, recurrent abortion, and offspring with Down syndrome (Rai et al, 2014;Fang et al, 2018;Zarfeshan Fard et al, 2019;Ota et al, 2020). In addition, the MTHFR C677T mutation, accompanied by increased blood homocysteine concentrations, results in a higher risk of various adverse pregnancy outcomes and offspring with congenital cardiovascular disease, neural tube defects (NTDs), or cleft lip and palate (Van Der Put et al, 2001;Wilcken et al, 2003;Pan et al, 2015;Zhang et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

Regional distribution of the MTHFR C677T polymorphism in Chinese females

2023

View full text Add to dashboard Cite

Objective: For analyzing the distribution characteristics of MTHFR C677T polymorphism in Chinese females in order to provide information for reducing birth defects and formulating public health policies to prevent congenital malformations.Methods: Literature search in the last 6 years on “MTHFR C677T,” “polymorphism” and “methylene tetrahydrofolate reductase.” The included literature provides the MTHFR C677T frequency in healthy females in the corresponding regions. The data were grouped by the national administrative region as a unit to obtain the distribution information of the MTHFR C677T and alleles in the female population in every province, municipality or autonomous region. This was done for analyzing the overall distribution of the MTHFR C677T allele and the geographical distribution of pregnancy complications.Results: A total of 126 studies were included, covering five autonomous areas, four municipalities directly under the Central Government, as well as 22 provinces (except Taiwan Province) in China. MTHFR C677T polymorphism data of 27 groups of Chinese Han women and 31 groups of other Chinese females were obtained, and the chi-square test revealed notable inter-group differences (p = 0.000). The TT genotype and T allele of MTHFR C677T accounted for 18.2% (4.7%–38.3%) and 40.3% (19.7%–61.4%) of the Chinese female population, respectively, with a significant north-south difference. Chinese females had a consistent frequency of the T allele with the geographical distribution of pregnancy complications such as recurrent abortion and preeclampsia.Conclusion: With a obvious geographical gradient, the MTHFR C677T polymorphism distribution in Chinese females is consistent with the geographical distribution of multiple pregnancy complications, and the risk assessment for it might be included in primary prevention for birth defects.

show abstract

Section: Discussionmentioning

confidence: 99%

Regional distribution of the MTHFR C677T polymorphism in Chinese females

2023

View full text Add to dashboard Cite

show abstract

“…Наиболее изученный в этой генной сети ген -это ген MTHFR, кодирующий фермент метилентетрагидрофолатредуктазу (МТГРФ). По данным ряда авторов, полиморфизмы в гене MTHFR повышают риск невынашивания беременности [20]. Некоторые исследования и даже систематические обзоры показали, что полиморфизм MTHFR C677T ассоциирован с преждевременными родами и низким весом плода, преэклампсией [21].…”

Section:  результаты и обсуждениеunclassified

4P-Medicine in Obstetrics: Perspectives and Opportunities

Гутикова¹,

Ганчар²

2022

Репродуктивное Здоровье. Восточная Европа

View full text Add to dashboard Cite

Цель исследования. Обобщение и актуализация существующих данных о генетических и метаболомических исследованиях в акушерстве.Материалы и методы. В обзор включены данные приоритетных публикаций об исследовании генома и метаболома при акушерских осложнениях.Результаты и обсуждение. Изучение молекулярно-генетических механизмов развития акушерских осложнений максимально приблизит нас к 4П-медицине, построенной на принципах персонализированного подхода к здоровью человека и интегрирующей понятия персонализации (индивидуальный подход к каждому пациенту), предикции (создание вероятностного прогноза акушерской патологии), превентивности (профилактика акушерских осложнений), партисипативности (мотивированное участие пациента). Purpose of the study. Generalization and updating of existing data on genetic and metabolomic research in obstetrics.Materials and methods. The review includes data from priority publications on the study of the genome and metabolome in obstetric complications.Results and discussion. The study of the molecular genetic mechanisms of the development of obstetric complications will bring us as close as possible to 4Р-medicine, built on the principles of a personalized approach to human health and integrating the concepts of personalization (an individual approach to each patient), prediction (creation of a probabilistic forecast of obstetric pathology), prevention (prevention of obstetric complications), participation (motivated patient participation).

show abstract

“…TNF-а (rs1800629); • гены рецепторов половых гормонов: ESR1 (rs2234693), ESR2 (rs4986938), PGR (rs1042838). Гены были выбраны на основании данных научной литературы [9][10][11] и знаний о патогенезе акушерских осложнений [3,6,12]…”

Section: описание медицинского вмешательстваunclassified

“…Вместе с генами тромбофилии обычно исследуются гены фолатного цикла [10,18,19]. В этой системе мы не выявили никаких значимых различий между исследуемыми группами по частоте встречаемости полиморфных вариантов генов MTHFR, MTR, MTRR, CBS, несмотря на то, что в ряде научных публикаций продемонстрирова-ORIGINAL STUDY НАУЧНОЕ ИССЛЕДОВАНИЕ на связь данной генной сети с акушерской патологией [20][21][22].…”

Section: основные результаты исследованияunclassified

Predicting the Development of Great Obstetric Syndromes Based on Multilocus Genetic Analysis: Results of a Retrospective Comparative Cohort Study

et al. 2021

View full text Add to dashboard Cite

Background. Great obstetric syndromes are pathological conditions, related to the level of maternal, perinatal and infant morbidity and mortality. There is a genetic component in the development of pregnancy complications, as evidenced by numerous clinical observations and research results. Purpose to study the frequency characteristics of the occurrence of polymorphic variants of various genes and their combinations in patients who underwent pregnancy complicated by great obstetric syndromes in comparison with women whose pregnancy proceeded without complications and successfully ended with the birth of a live full-term baby. Methods. A retrospective comparative cohort study was conducted. Molecular genetic research was carried out in 391 women: 279 women who underwent one of the verified clinical forms related to great obstetric syndromes (main group), 112 women were included in the control group. 37 polymorphisms in 33 genes were studied (FGB, F2, F5, F7, F13, GPIa, GPIIIa, GPVI, PROC, PAI1, PLAT, MTHFR, MTHFD, MTRR, MTR, SLC19A1, CBS, NOS3, END1, ACE, ADD1, AGT , CYP11B2, GSTM, GSTT, GSTP1, MnSOD, GPX1, IL1, TNF-a, ESR1, ESR2, PGR). Results. The most significant polymorphisms and their combinations were identified. In the main group, the following combinations were more common: ACE Alu I/D ID + AGT А704G GG, AGT А704G GG + MTRR A66G AG, F7 G10976A GG + AGT А704G GG, F7 G10976A GG + F13 G103A GG, F7 G10976A GG + GPIa С807T CC, F7 G10976A GG + MTHFR C677T CC, CYP11B2 G-344A GA + IL1 G+3953A GA, PAI1-657 5G/4G 5G4G + IL1 G+3953A AA, PAI1-657 5G/4G 4G4G + IL1 G+3953A AA, in control group AGT A704G AA + MTRR A66G AG, AGT A704G AG + MTRR A66G AG (the differences are statistically significant). To simplify the practical application of the analysis for genetic polymorphisms, a computer program named GOS RISK was created to assess the risk of pregnancy complications. The sensitivity and specificity were 70.8% and 78.8%, the efficiency of the method 74.8%. Conclusion. Analysis of individual polymorphic variants of genes indicates their role in the discussed pathology. Creation of computer programs based on multilocus genome analysis increases the predictive value of molecular genetic studies.

show abstract

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

Abstract: MTHFR 677 T may play a significant role in regard to the risk of preterm delivery, especially in the Asian population.

Cited by 4 publications

References 25 publications

Regional distribution of the MTHFR C677T polymorphism in Chinese females

Regional distribution of the MTHFR C677T polymorphism in Chinese females

4P-Medicine in Obstetrics: Perspectives and Opportunities

Predicting the Development of Great Obstetric Syndromes Based on Multilocus Genetic Analysis: Results of a Retrospective Comparative Cohort Study

Contact Info

Product

Resources

About