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Polymorphism of MTHFR 1298A>C in relation to adverse pregnancy outcomes in Chinese populations.

ABSTRACT: BACKGROUND:Adverse pregnancy outcomes (APOs) are involved in a series of abnormal pregnancies like embryo growth arrest, spontaneous abortion, premature birth, stillbirth, fetal malformation, birth defects and other pathological pregnancy, and childbirth complications. Polymorphism of methylenetetrahydrofolate reductase gene (MTHFR, 607093) is one of the main genetic causes of APO. However, there is still debate on whether MTHFR 1298A>C, rs1801131, polymorphism is related to APO. For the lack of extensive research in the Chinese population at present, the study aim to investigate the relationship between MTHFR 1298A>C polymorphism with APO through a large number of data. METHODS:A total of 241 samples from patients with APO and 117 healthy controls in Yunnan province were used for MTHFR gene polymorphism analysis, with double fluorescence quantitative polymerase chain reaction (PCR). In consideration of the low frequency of MTHFR 1298C/C genotype, which might affect the statistic results, further datasets of MTHFR 1298A>C polymorphism were collected from literature and analyzed. RESULTS:No statistical difference was detected in the frequency of MTHFR1298A>C polymorphism between two groups in Yunnan. Our data showed that the frequency of MTHFR 1298A/A genotype had the decreasing tendency among Chinese population from northern to southern, as well as eastern to western of China. The frequency of MTHFR 1298A/C and 1298C/C genotypes had the adverse tendency. The frequency of MTHFR 1298C/C genotype was significantly different between two groups in Chinese populations. The significant difference was also observed in the frequency of MTHFR 1298C/C polymorphism between two groups from central China and southern China. CONCLUSION:In summary, our data showed that MTHFR 1298C/C genotype was one of the important genetic factors of APO in China.

SUBMITTER: Mo H

PROVIDER: S-EPMC6503069 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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Polymorphism of MTHFR 1298A>C in relation to adverse pregnancy outcomes in Chinese populations.

Mo Hui H Rao Meng M Wang Gang G Long Yan-Xi YX Wang Hua-Wei HW Tang Li L

Molecular genetics & genomic medicine 20190322 5

<h4>Background</h4>Adverse pregnancy outcomes (APOs) are involved in a series of abnormal pregnancies like embryo growth arrest, spontaneous abortion, premature birth, stillbirth, fetal malformation, birth defects and other pathological pregnancy, and childbirth complications. Polymorphism of methylenetetrahydrofolate reductase gene (MTHFR, 607093) is one of the main genetic causes of APO. However, there is still debate on whether MTHFR 1298A>C, rs1801131, polymorphism is related to APO. For the ...[more]

PMID: 30900398

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Project description:Background:5,10-Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in one-carbon metabolism that ensures the availability of methyl groups for methylation reactions. Two single-nucleotide polymorphisms (SNPs) in the MTHFR gene, 677C>T and 1298A>C, result in a thermolabile enzyme with reduced function. These variants, in both the maternal and/or fetal genes, have been associated with pregnancy complications including miscarriage, neural tube defects (NTDs), and preeclampsia (PE), perhaps due to altered capacity for DNA methylation (DNAm). In this study, we assessed the association between MTHFR 677TT and 1298CC genotypes and risk of NTDs, PE, or normotensive intrauterine growth restriction (nIUGR). Additionally, we assessed whether these high-risk genotypes are associated with altered DNAm in the placenta. Results:In 303 placentas screened for this study, we observed no significant association between the occurrence of NTDs (N?=?55), PE (early-onset: N?=?28, late-onset: N?=?20), or nIUGR (N?=?21) and placental (fetal) MTHFR 677TT or 1298CC genotypes compared to healthy pregnancies (N?=?179), though a trend of increased 677TT genotype in PE/IUGR together was observed (OR 2.53, p?=?0.048). DNAm was profiled in 10 high-risk 677 (677TT + 1298AA), 10 high-risk 1298 (677CC + 1298CC), and 10 reference (677CC + 1298AA) genotype placentas. Linear modeling identified no significantly differentially methylated sites between high-risk 677 or 1298 and reference placentas at a false discovery rate <?0.05 and ?? ??0.05 using the Illumina Infinium HumanMethylation450 BeadChip. Using a differentially methylated region analysis or separating cytosine-guanine dinucleotides (CpGs) by CpG density to reduce multiple comparisons also did not identify differential methylation. Additionally, there was no consistent evidence for altered methylation of repetitive DNA between high-risk and reference placentas. Conclusions:We conclude that large-scale, genome-wide disruption in DNAm does not occur in placentas with the high-risk MTHFR 677TT or 1298CC genotypes. Furthermore, there was no evidence for an association of the 1298CC genotype and only a tendency to higher 677TT in pregnancy complications of PE/IUGR. This may be due to small sample sizes or folate repletion in our Canadian population attenuating effects of the high-risk MTHFR variants. However, given our results and the conflicting results in the literature, investigations into alternative mechanisms that may explain the link between MTHFR variants and pregnancy complications, or in populations at risk of folate deficiencies, are warranted.

Project description:ObjectiveTo evaluate the relationship between acculturation and adverse pregnancy outcomes, and whether these relationships differ across racial or ethnic groups.MethodsThis is a planned secondary analysis of the nuMoM2b study (Nulliparous Pregnancy Outcomes Study: Monitoring Mothers-to-Be), a prospective observational cohort study of 10,038 pregnant women at eight academic health care centers in the United States. Nulliparous pregnant women with singleton gestations were recruited between 6 0/7 and 13 6/7 weeks of gestation from October 2010-September 2013. Acculturation was defined by birthplace (United States vs non-United States), language used during study visits (English or Spanish), and self-rated English proficiency. The adverse pregnancy outcomes of interest were preterm birth (less than 37 weeks of gestation, both iatrogenic and spontaneous), preeclampsia or eclampsia, gestational hypertension, gestational diabetes, stillbirth, small for gestational age, and large for gestational age. Multivariable regression modeling was performed, as was an interaction analysis focusing on the relationship between acculturation and adverse pregnancy outcomes by maternal race or ethnicity.ResultsOf the 10,006 women eligible for this analysis, 8,100 (80.9%) were classified as more acculturated (eg, born in the United States with high English proficiency), and 1,906 (19.1%) were classified as having less acculturation (eg, born or not born in the United States with low proficiency in English or use of Spanish as the preferred language during study visits). In multivariable logistic regression modeling, more acculturation was significantly associated with higher frequency of preterm birth (odds ratio [OR] 1.46, adjusted odds ratio [aOR] 1.50, 95% CI 1.16-1.95); spontaneous preterm birth (OR 1.54, aOR 1.62, 95% CI 1.14-2.24); preeclampsia or eclampsia (OR 1.39, aOR 1.31, 95% CI 1.03-1.67); preeclampsia without severe features (OR 1.44, aOR 1.43, 95% CI 1.03-2.01); and gestational hypertension (OR 1.68, aOR 1.48, 95% CI 1.22-1.79). These associations did not differ by self-described race or ethnicity.ConclusionIn a large cohort of nulliparous women, more acculturation, regardless of self-described race or ethnicity, was associated with increased odds of several adverse pregnancy outcomes.Clinical trial registrationClinicalTrials.gov, NCT01322529.

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Polymorphism of MTHFR 1298A>C in relation to adverse pregnancy outcomes in Chinese populations.

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Polymorphism of MTHFR 1298A>C in relation to adverse pregnancy outcomes in Chinese populations.

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