Unexplained male infertility is mostly due to sperm-related gene mutations in the spermatogenic process. Methylenetetrahydrofolate reductase (MTHFR) plays an important role in the process of DNA, RNA and protein metabolism, and is closely related with spermatogenesis. Researchers have found more than 20 single nucleotide polymorphisms (SNP) of the MTHFR gene. The polymorphisms of MTHFRC677T and A1298C may have a close relationship with male infertility. But the correlation between MTHFRG1793 and male infertility needs to be further studied.
Humans ; Infertility, Male ; genetics ; Male ; Methylenetetrahydrofolate Reductase (NADPH2) ; genetics ; Polymorphism, Single Nucleotide

OBJECTIVES: To study the distribution characteristics of methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in children with primary hypertension, and to explore the association between MTHFR C677T gene polymorphism and H-type hypertension in children. METHODS: A total of 121 children with primary hypertension who were hospitalized in the department of cardiovascular medicine from January to July 2021, newly diagnosed, and untreated were retrospectively selected as the subjects. The children were divided into three groups: CC genotype (19 children), CT genotype (51 children), and TT genotype (51 children). According to the serum homocysteine (Hcy) level, they were divided two groups: H-type hypertension (47 children) and simple hypertension (74 children). The medical data were compared between the groups. The association between MTHFR C677T gene polymorphism and H-type hypertension was evaluated. RESULTS: The mutation frequency of T allele in children with primary hypertension was significantly higher than that in healthy adults in Beijing and Chinese Han adults (P<0.001). The serum Hcy level in the TT genotype group was significantly higher than that in the CC and CT genotype groups (P<0.001). The serum Hcy level in the H-type hypertension group was significantly higher than that in the simple hypertension group (P<0.001), and MTHFR C677T was mostly TT genotype, which was associated with the risk of H-type hypertension (OR=12.71, P<0.001). There was no significant difference in the incidence rate of target organ damage between the H-type hypertension and simple hypertension groups (P>0.05). However, multiple organ involvement was observed in the H-type hypertension group at diagnosis, accounting for 11% (5/47). CONCLUSIONS The mutation rate of MTHFR C677T T allele in children with primary hypertension is high and associated with the serum Hcy level. TT genotype is an independent risk factor for H-type hypertension in children, and it may be related to the severity of early target organ damage.
Alleles ; Child ; Genotype ; Humans ; Hypertension/genetics* ; Methylenetetrahydrofolate Reductase (NADPH2)/genetics* ; Polymorphism, Genetic ; Retrospective Studies

OBJECTIVE: To observe the expression level of serum homocysteine (Hcy) and methylenetetrahydrofolate reductase (MTHFR) gene polymorphism in patients with hematological diseases complicated with coronary heart disease, and analyze the relationship between serum Hcy level, MTHFR gene polymorphism and coronary heart disease. METHODS: The medical records of 80 patients with coronary heart disease who completed treatment of hematological diseases during the period from March 2018 to March 2020 were selected as observation group. In addition, the medical records of 92 patients with hematological diseases who completed treatment in our hospital during the same period were selected as control group. Venous blood samples of the two groups were collected to detect serum Hcy level and MTHFR gene polymorphism. The serum Hcy levels of the two groups with different MTHFR genotypes were compared, and the effects of the above indicators on hematological diseases complicated with coronary heart disease were analyzed. RESULTS: The detection rates of MTHFR gene TT and TC in the observation group were higher than those in the control group, while the distribution frequency of MTHFR genotype CC was lower (P<0.05). The serum Hcy levels of the patients with MTHFR genotype TT and TC in the observation group was higher than the control group (P<0.05). Binary logistic regression analysis showed that MTHFR gene TC/CC genotype serum Hcy overexpression may be influencing factor which induced coronary heart disease in patients with hematological diseases (OR=2.107/OR=1.634, P<0.05). ROC curves showed that the AUC of serum Hcy level of MTHFR gene TC/CC genotype and hematological disease complicated with coronary heart disease were both > 0.8. When MTHFR gene TC reaching the optimal threshold of 22.165 μmol/L, the sensitivity was 0.950 and the specificity was 0.837, While MTHFR gene CC reached the optimal threshold of 19.630 μmol/L, the sensitivity was 0.938 and the specificity was 0.826, the best predictive value could be obtained. CONCLUSION The changes of serum Hcy and MTHFR gene polymorphisms may be involved in the pathological process in patients with hematological diseases complicated with coronary heart disease. In the future, early detection of serum Hcy levels and MTHFR gene polymorphisms in patients with hematological diseases can be used to predict the risk of coronary heart disease.
Coronary Disease/genetics* ; Genotype ; Hematologic Diseases/complications* ; Homocysteine ; Humans ; Methylenetetrahydrofolate Reductase (NADPH2)/genetics* ; Polymorphism, Genetic

Alleles ; Asthma/genetics* ; Child ; Genetic Predisposition to Disease ; Genotype ; Glucocorticoids ; Humans ; Methylenetetrahydrofolate Reductase (NADPH2)/genetics* ; Polymorphism, Genetic

Animals ; Cardiovascular Diseases ; etiology ; Cerebrovascular Disorders ; etiology ; Homocysteine ; metabolism ; Humans ; Methylenetetrahydrofolate Reductase (NADPH2) ; genetics ; Polymorphism, Genetic

OBJECTIVE: To investigate the association of MTHFR C677T and MS A2756G polymorphism with semen quality in China. METHODS: The experimental group included 75 males with oligospermia, asthenospermia or teratospermia. The control group included 72 fertile males with normal fertility and sperm quality. The differences in the frequency of genetic polymorphism of MTHFR C677T and MS A2756G in the 2 groups were analyzed, and the plasma homocysteine (Hcy) level in both groups was detected. RESULTS: The frequency of MTHFR C677T genotypes (CT, TT and CT+TT) in the abnormal sperm group was higher than that in the control group (P<0.05), and it was the same case for T allele between the 2 groups (P<0.05). There was no difference in the frequency of MS A2756G genotypes between the two groups (P>0.05). The Hcy level in abnormal sperm group was higher than that in the control group. In all subjects, the Hcy level of the MTHFR genotypes (CT, TT and CT+TT) was higher than that of the CC genotype, with no difference among the three MS A2756G genotypes. CONCLUSION CT and TT genotypes of MTHFR C677T are associated with abnormal sperm, which might be part of the pathogenesis of abnormal sperms. T allele may be the risk factor in China. The one mechanism of the association between MTHFR C677T polymorphism and semen quality could be higher Hcy level. MS A2756G polymorphism may not associate with semen quality in China.
Alleles ; China ; Genotype ; Humans ; Male ; Methylenetetrahydrofolate Reductase (NADPH2) ; genetics ; Polymorphism, Genetic ; Risk Factors ; Semen Analysis

BACKGROUND: Excessive exposure to fluoride can reduce intelligence. Methylenetetrahydrofolate dehydrogenase, cyclohydrolase, and formyltetrahydrofolate synthetase 1 ( MTHFD1 ) polymorphisms have important roles in neurodevelopment. However, the association of MTHFD1 polymorphisms with children's intelligence changes in endemic fluorosis areas has been rarely explored. METHODS: A cross-sectional study was conducted in four randomly selected primary schools in Tongxu County, Henan Province, from April to May in 2017. A total of 694 children aged 8 to 12 years were included in the study with the recruitment by the cluster sampling method. Urinary fluoride (UF) and urinary creatinine were separately determined using the fluoride ion-selective electrode and creatinine assay kit. Children were classified as the high fluoride group and control group according to the median of urinary creatinine-adjusted urinary fluoride (UF Cr ) level. Four loci of MTHFD1 were genotyped, and the Combined Raven's Test was used to evaluate children's intelligence quotient (IQ). Generalized linear model and multinomial logistic regression model were performed to analyze the associations between children's UF Cr level, MTHFD1 polymorphisms, and intelligence. The general linear model was used to explore the effects of gene-environment and gene-gene interaction on intelligence. RESULTS: In the high fluoride group, children's IQ scores decreased by 2.502 when the UF Cr level increased by 1.0 mg/L (β = -2.502, 95% confidence interval [CI]:-4.411, -0.593), and the possibility for having "excellent" intelligence decreased by 46.3% (odds ratio = 0.537, 95% CI: 0.290, 0.994). Children with the GG genotype showed increased IQ scores than those with the AA genotype of rs11627387 locus in the high fluoride group ( P   <  0.05). Interactions between fluoride exposure and MTHFD1 polymorphisms on intelligence were observed (Pinteraction < 0.05). CONCLUSION Our findings suggest that excessive fluoride exposure may have adverse effects on children's intelligence, and changes in children's intelligence may be associated with the interaction between fluoride and MTHFD1 polymorphisms.
Child ; Creatinine ; Cross-Sectional Studies ; Fluorides/urine* ; Formate-Tetrahydrofolate Ligase ; Humans ; Intelligence/genetics* ; Methylenetetrahydrofolate Dehydrogenase (NADP) ; Methylenetetrahydrofolate Reductase (NADPH2)

OBJECTIVETo explore the association between angiotensin-converting enzyme (ACE) and the polymorphisms of N5, N10-methylenetetrahydrofolic acid reductase (MTHFR) gene in patients with ischemic stroke (IS).

METHODSTotally 454 patients with IS (IS group) and 334 controls (control group) were recruited in our study. Their I/D polymorphisms of ACE gene and C677T polymorphisms of MTHFR gene were detected by PCR and denaturing high performance liquid chromatography.

RESULTSThe frequencies of DD, ID, II and CC, CT, TT genotype in IS group were 22.5%, 43.4%, 34.1%, and 51.8%, 40.5%, 7.7%, respectively, and were 17.4%, 45.5%, 37.1% and 56.9%, 38.3%, 4.8% in the control group, respectively. DD genotype was associated with large-artery atherosclerosis (LAA), and TT genotype and T allele were associated with LAA and cardioembolism. Synergistic effects were found between TT and DD/ID DD genotypes in the pathogenesis of ischemic stroke.

CONCLUSIONDD, TT genotype and T allele are risk factors of IS, and ACE gene and MTHFR gene have synergistic effects in the pathogenesis of IS.

Brain Ischemia ; complications ; genetics ; Genetic Predisposition to Disease ; Humans ; Methylenetetrahydrofolate Reductase (NADPH2) ; genetics ; Polymorphism, Genetic ; Renin ; genetics ; Stroke ; etiology ; genetics

OBJECTIVETo investigate the effect of MTHFR gene on schizophrenia and its cognitive function.

METHODSWe recruited 254 schizophrenia patients with stable condition, 339 healthy controls for genetic analysis and 72 healthy controls for cognitive evaluation. The repeatable battery for the assessment of neuropsychological status (RBANS) was used for cognitive measurement. PCR-RFLP technique was carried out to genotype 677C/T polymorphism.

RESULTSThere were no significant differences in genotypic or allelic frequencies of the 677C/T polymorphism between the case and control groups (P> 0.05). In the RBANS, patients had higher scores of immediate memory, visuospatial skill, language, attention, delayed memory and total scores than healthy controls (P< 0.01); Patients with different genotypes of 677C/T polymorphism had significant differences in the scores of immediate memory, attention and total scores (P< 0.05).

CONCLUSIONOur results did not provide evidence for MTHFR gene conferring susceptibility to schizophrenia. However, there was a significant association between the MTHFR gene and cognitive impairment in patients with schizophrenia, especially in immediate memory and attention.

Adolescent ; Adult ; Cognition ; Genotype ; Humans ; Methylenetetrahydrofolate Reductase (NADPH2) ; genetics ; Middle Aged ; Polymorphism, Genetic ; Schizophrenia ; genetics ; Schizophrenic Psychology ; Young Adult

Folic Acid ; metabolism ; Homocysteine ; metabolism ; Humans ; Methylenetetrahydrofolate Reductase (NADPH2) ; genetics ; Neural Tube Defects ; genetics ; metabolism ; Polymorphism, Genetic