MTHFR Gene Polymorphisms Research Articles

MTHFR Polymorphisms and Plasma Homocysteine in Early-Onset Alzheimer's Disease: A Case-Control Study

Background: Early-onset Alzheimer's disease (EOAD) constitutes 1-2% of all Alzheimer's cases, presenting with poorer prognosis, progressive symptoms, and reduced life expectancy compared to late-onset Alzheimer’s, thereby increasing socioeconomic burden. Elevated plasma homocysteine levels due to MTHFR gene polymorphisms are implicated in Alzheimer's etiology. The present study aims to explore the association between MTHFR gene polymorphisms in Sudanese population. Methods: Seventy-three EOAD patients were assessed for MTHFR C677T and A1298C polymorphisms, alongside plasma homocysteine levels. Results: Significant associations were observed between CT and TT alleles, elevated plasma homocysteine levels, and EOAD. Conclusion: MTHFR C677T polymorphism was associated in EOAD in Sudanese population. Elevated plasma homocysteine levels might frame this association and potentially contribute to the disease onset before the age of 65.

Interrelationships among MTHFR gene polymorphisms, MTRR gene polymorphisms, and HBV gene BCP 1762/1764 mutations with disease progression in Chronic hepatitis B virus infection patients

Objective Chronic hepatitis B virus (HBV) infection is a major disease that seriously affects the health of patients. In this paper, the relationship among MTHFR gene polymorphism, MTRR gene polymorphism and 1762/1764 mutation in the BCP region of HBV gene with disease progression in chronic HBV patients was studied. Methods A total of 144 chronic HBV infection patients from January 2021 to June 2022 in the Third People’s Hospital of Zigong City, were included as the study subjects. These patients were divided into hepatitis B primary liver cancer patients group (PLC) in 51 cases, Non-primary liver cancer patients group (Non-PLC) in 93 cases, Non-PLC is also divided into chronic hepatitis B virus carriers (CHC) in 49 cases, hepatitis B Live cirrhosis(LC) in 44 cases. MTHFR (C677T), MTRR (A66G) and MTHFR (A1298C) genes polymorphisms were detected by PCR-dissolution curve. The level of HBV-DNA was quantified by real-time PCR, and the 1762/1764 mutation site in the BCP region of the HBV gene were detected by ARMS-PCR. Data were statistically analyzed using the SPSS statistical software. Results The proportion of HBV mutations in BCP region 1762/1764 in PLC group was 82.4%, which was higher than that in LC group (63.6%) and CHC group (51.0%), and the differences were statistically significant (p < 0.05). There were no significant differences in the distribution of MTHFR C677T, MTHFR A1298C and MTRR A66G polymorphisms among CHC, LC and PLC (p > 0.05). The polymorphism distribution of MTHFR C677T, MTRR A66G and MTHFR A1298C genes in patients with chronic hepatitis B virus infection at different stages (CHC, LC and PLC) showed no gender or age differences between and within groups (p > 0.05). Among the patients with MTHFR 677CT + TT, MTRR 66AG + GG and MTHFR 1298AA genotype, the proportion of HBV mutation in BCP region 1762/1764 in PLC group was higher than that in CHC group and LC group, and the differences were statistically significant (p < 0.05). Folate levels in the PLC group were lower than those in the non-PLC group (CHC and LC patients), and the difference was statistically significant compared with the CHC group (p < 0.05). In different MTHFR C677T and MTRR A66G genotypes, the serum GGT activity were statistically significant between mutant PLC and mutant Non-PLC (p < 0.05). Conclusion MTHFR C677T, MTRR A66G and MTHFR A1298C gene polymorphisms distribution have no gender and age differences in chronic hepatitis B virus infection patients. The mutation of HBV gene BCP region 1762/1764 may be associated with the occurrence and development of liver cancer in patients with chronic HBV infection. Single difference of MTHFR C677T, MTHFR A1298C and MTRR A66G gene polymorphisms may have little effect on the disease progression in patients with chronic HBV infection. MTHFR 677CT + TT, MTRR 66AG + GG and MTHFR 1298AA genotype combined with HBV gene BCP region 1762/1764 mutation may be closely related to the occurrence and development of hepatitis B liver cancer.

Influence of different forms of folic acid supplementation on pregnancy outcomes under various exposure factors.

Folic acid supplementation has been shown to provide benefits in preventing neural tube defects and other birth defects, as well as reducing adverse pregnancy outcomes. This study aimed to examine the impact of various folic acid supplementation methods on pregnancy. TaqMan-MGB technology was used to detect polymorphisms in the folate metabolism-related genes, MTHFR C677T and A1298C. Blood-related biochemical indicators, including HCY levels and history of adverse pregnancy, were examined in relation to different exposure factors (MTHFR gene polymorphism, HCY levels, and adverse pregnancy history) and their impact on pregnancy outcomes. Various forms of folic acid intervention were implemented in a population with an adverse pregnancy history and high HCY levels to analyze the effects of reducing HCY levels and improving pregnancy outcomes. Exposure factors, such as adverse pregnancy history, HCY, and medium-to-high risk of gene metabolism, were closely associated with pregnancy outcomes. Interestingly, methylfolate efficiently reduced the serum HCY levels. More importantly, the methylfolate group exhibited a significantly lower incidence of adverse pregnancies than the synthetic folic acid group. In this study, the risk factors, including adverse pregnancy history, HCY, and medium-to-high risk of gene metabolism, were confirmed to lead to the poorer pregnancy outcomes in our cohort. 5-methyltetrahydrofolate may be an effective approach for decreasing the incidence of adverse pregnancy outcomes.

Genetic-epigenetic aspects of infertility in women with long-COVID-19

The aim of the study is to determine the genetic and epigenetic features of infertile patients with long-term COVID-19 in order to clarify the risk factors for the failure of assisted reproductive technologies (ART) use. Materials and methods. The MTHFR (C677T, A1298С), RFC-1 (G80A) and BHMT (G742A) gene polymorphisms and the methylation of ESR1 gene was performed. 40 patients (main group) with infertility due to long-term COVID-19 were examined: the subgroup 1 - 25 women in whom the use of ART was ineffective, the subgroup 2 - 15 patients with effective use of ART. The control was taken from literary sources: for RFC (G80A), MTHFR (C677T) and MTHFR (A1298C) polymorphisms - 35 Ukrainian women without infertility and reproductive losses; for BHMT (G742A) - 60 people of the Ukrainian population. The methods of variational statistics were used, in particular the Fisher test with a significance level of p&lt;0.05. Results. Patients of the main group have a higher frequency of the homozygous genotype of the MTHFR gene polymorphism (C677T) on the mutant T allele (20.0% vs. 3.2%; p&lt;0.05). When ART is unsuccessful, the TT genotype is 4 times greater (28.0% vs. 6.7%; p&lt;0.05). A study by genotypes of MTHFR polymorphism (A1298C) did not reveal a significant difference. Patients of the main group `have a higher frequency of the mutant allele A of the RFC gene (G80A) (80.0% vs. 51.4%; p&lt;0.05). No significant difference was found depending on the success rate of ART. The frequency of BHMT gene polymorphism (G742A) in the main group did not differ from that in the Ukrainian population, however, in the case of unsuccessful ART, it was observed less often and only in the heterozygous variant (40.0% vs. 66.6%; p&lt;0.05). The analysis of pairwise intergenic interaction revealed the highest frequency of the combination of AAGA for the MTHFR (A1298C)+BHMT (G742A) pair - 35.0% and GAAA for the RFC (G80A)+MTHFR (A1298C) pair - 30.0% in the main group. Hypermethylation of the promoter region of the ESR1 gene is observed in 20 (50.0%) patients of the main group: in 17 (68.0%) women of the subgroup 1 versus 3 (20.0%) women of the subgroup 2 (p&lt;0.05). Conclusions. The genetic and epigenetic conditioning of the success of ART programs in infertility associated with long-term COVID-19 has been revealed, which opens up new diagnostic and therapeutic opportunities for identifying factors predisposing to unsuccessful ART treatment and increasing the effectiveness of such treatment by correcting disorders of folic acid metabolism, hyperhomocysteinemia and the estrogens receptor apparatus. The research was carried out in accordance with the principles of the Declaration of Helsinki. The research protocol was approved by the Local Ethics Committee of the institution mentioned in the work. Informed consent of the women was obtained for the research. The authors declare no conflict of interest.

Особливості виникнення поширеного перитоніту та вплив поліморфізму гена 5,10-метилентетрагідрофолатредуктази

It is relevant in modern surgery to clarify the risk factors of widespread peritonitis and to improve the treatment and diagnostic algorithms for the management of such patients. Aim - to establish the features of the occurrence of widespread peritonitis and the influence of MTHFR gene polymorphisms on the risk of its occurrence. Materials and methods. The study included 100 patients who underwent surgical interventions for acute abdominal diseases complicated by peritonitis: acute appendicitis (48%), acute cholecystitis (32%), perforated ulcer of the stomach or duodenum (8%), tumor perforation (3%), injuries of the abdominal cavity (3%), pinched hernia (2%) and intestinal obstruction (4%). Genotypes of MTHFR gene polymorphisms rs1801131 and rs1801133 were determined by real-time polymerase chain reaction. Mathematical processing of the research results was carried out using the Statistica 10 program. Results. The risk of disseminated peritonitis was increased with perforated gastric or duodenal ulcer, tumor perforation, abdominal trauma, herniated hernia, or intestinal obstruction compared with acute appendicitis and cholecystitis. The risk of disseminated peritonitis was lower in II blood group carriers compared and was associated with temperature at hospitalization and pulse rate. Conclusions. The factors determining the risk of disseminated peritonitis in the multivariate regression model were the diagnosis, heart rate, and the rs1801131 genotype of the MTHFR gene. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

Association of Maternal Dietary Habits and Infant MTHFR Gene Polymorphisms with Ventricular Septal Defect in Offspring: A Case-Control Study.

This study aimed to explore the association of maternal diet, infant MTHFR gene polymorphisms, and their interactions with the risk of ventricular septal defects (VSDs). This case-control study recruited 448 mothers of VSD children and 620 mothers of healthy counterparts. Multivariable-adjusted logistic regression models were constructed to examine the association between maternal dietary habits during the first trimester of gestation, MTHFR gene polymorphisms, and VSD. Gene-environment interaction effects were analyzed through logistic regression models, with false discovery rate p-value (FDR_p) < 0.05. Maternal excessive intake of fermented bean curd (OR = 2.00, 95%CI: 1.59-2.52), corned foods (OR = 2.23, 1.76-2.84), fumatory foods (OR = 1.75, 1.37-2.23), grilled foods (OR = 1.34, 1.04-1.72), and fried foods (OR = 1.80, 1.42-2.27) was associated with an increased risk of VSD. Regular intake of fish and shrimp (OR = 0.42, 0.33-0.53), fresh eggs (OR = 0.58, 0.44-0.75), soy products (OR = 0.69, 0.56-0.85), and dairy products (OR = 0.71, 0.59-0.85) was found to reduce the occurrence of VSD. Moreover, MTHFR gene polymorphisms at rs2066470 (homozygous: OR = 4.28, 1.68-10.90), rs1801133 (homozygous: OR = 2.28, 1.39-3.74), and rs1801131 (heterozygous: OR = 1.75, 1.24-2.47; homozygous: OR = 3.45, 1.50-7.95) elevated offspring susceptibility to VSDs. Furthermore, significant interactions of MTHFR polymorphisms with maternal dietary habits were observed, encompassing corned foods, fermented bean curd, fried foods, and grilled foods. Maternal dietary habits; MTHFR polymorphisms at rs2066470, rs1801131, and rs1801133; and their interactions were significantly associated with the occurrence of VSDs in offspring.

MTHFR gene polymorphisms and serum homocysteine concentration in women with recurrent miscarriages

MTHFR gene polymorphisms and serum homocysteine concentration in women with recurrent miscarriages

Association of the MTHFR Gene Polymorphisms with Efficacy and Toxicity of Methotrexate in Patients with Juvenile Idiopathic Arthritis

Association of the MTHFR Gene Polymorphisms with Efficacy and Toxicity of Methotrexate in Patients with Juvenile Idiopathic Arthritis

Associations between MTHFR gene polymorphisms (C677T and A1298C) and genetic susceptibility to prostate cancer: a systematic review and meta-analysis.

Background: The association between MTHFR gene polymorphisms (C677T and A1298C) and prostate cancer risk remains controversial. Methods: Two independent researchers searched the PubMed, Embase, Cochrane and Web of Science databases for all papers published up to 12/19/2023 and used various genetic models to evaluate the relationship between MTHFR polymorphisms and prostate cancer risk. Results: The meta-analysis included 26 case‒control studies with a total of 12,455 cases and 13,900 controls with the C677T polymorphism and 6,396 cases and 8,913 controls with the A1298C polymorphism. Overall, no significant association was found between the MTHFR gene polymorphisms and prostate cancer risk. However, the C677T polymorphism was associated with reduced prostate cancer risk in the Asian population (T allele vs. C allele: OR = 0.759, 95% CI 0.669-0.861, p < 0.001; TT + CT vs. CC: OR = 0.720, 95% CI 0.638-0.812, p < 0.001; TT vs. CC + CT: OR = 0.719, 95% CI 0.617-0.838, p < 0.001; TT vs. CC: OR = 0.620, 95% CI 0.522-0.737, p < 0.001); however, the A1298C polymorphism was associated with an increased risk in the mixed race group from the United States (CC + AC vs. AA: OR = 1.464, 95% CI 1.052-2.037, p = 0.024; AC vs. AA: OR = 1.615, 95% CI 1.037-2.514, p = 0.034). Conclusion: The meta-analysis suggested that MTHFR gene polymorphisms (C677T and A1298C) may have different effects on prostate cancer risk in specific populations.

Association of variants in AGTR1, ACE, MTHFR genes with microalbuminuria and risk factors for the onset of diabetic nephropathy in adolescents with type 1 diabetes in the population of Serbia.

Genetic studies may provide valuable information about patients who are at high risk of developing diabetes nephropathy. Before the appearance of albuminuria, there are genetic mutations that can predispose the development of kidney disease. The study included 130 adolescents with type 1 diabetes. Patients were divided into two groups according to the presence of microalbuminuria. This study was performed to examine clinical and laboratory differences between adolescents with type 1 diabetes with and without microalbuminuria and the distribution of the ACE, AGTR1, and MTHFR gene polymorphisms. The mean microalbuminuria in the first group 6.41±7.35 significantly differs from the second group 0.82±0.48 (p<0.001). HbA1c, 24-hour proteinuria, and day-time systolic blood pressure were significantly higher in the MA group (p<0.05). Smaller systolic blood pressure percentage nocturnal decline was observed in the microalbuminuric group (p 0.030). The frequencies of the ACE DD, ID, and II genotypes were 12.5%, 50.0%, and 37.5%, respectively, among T1D patients with MA, and 19.3%, 56.1%, 24.6%, in the control group without MA (P = .510). The frequencies of the AGTR1 AA, AC, and CC genotypes were 62.5%, 25.0%, and 12.5% among TID patients with MA, and 49.1%, 43.9%, 8.0%, in the group without MA (p 0.326). The frequencies of the MTHFR CC, CT and TT genotypes were 37.5%, 50.0%, 12.5% among TID patients with MA, and 37.7%, 45.6%, 16.7% in the group without MA (p 0.901). Our data suggest that common variants in the AGTR1, ACE, and MTHFR genes are not strongly associated with diabetic nephropathy in our patients with type 1 diabetes.

Association analysis of MTHFR (rs1801133 and rs1801131) gene polymorphism towards the development of type 2 diabetes mellitus in Dali area population from Yunnan Province, China.

Type 2 diabetes mellitus (T2DM) is a common complex metabolic disorder that exhibits a strong genetic predisposition. 5,10-methylenetetrahydrofolate reductase (MTHFR) regulates folate metabolism, which has been proposed to be associated with T2DM, although the relationship is inconsistent among different geographical areas. This study aimed to investigate the effects of MTHFR C677T (rs1801133) and A1298C (rs1801131) loci polymorphisms on T2DM susceptibility in the population of the Dali area in Yunnan Province, China. This case-control study included 445 patients with T2DM and 272 healthy control individuals from the Dali area of Yunnan Province. Genotyping of the MTHFR gene polymorphisms was performed using the competitive allele-specific PCR (KASP) method. The effects of genetic variations of the MTHFR gene on T2DM risk were evaluated using odds ratios (OR) and 95% confidence intervals. The results of the present study revealed that the TT genotype (OR = 1.750, P = 0.030) and the T allele (OR = 1.252, P=0.047) at the MTHFR C677T locus were considerably associated with the increased odds of developing T2DM. In addition, the CC genotype (OR = 3.132, P=0.032) at the MTHFR A1298C locus also substantially increased the odds of developing T2DM. The T-A haplotype (OR = 1.305, P=0.030) of MTHFR C677T and A1298C exhibited the increased odds of developing T2DM. Biochemical index analyses showed that patients with T2DM who carried the CT or TT genotype of MTHFR C677T expressed substantially higher levels of fasting blood glucose (FBG), homocysteine (Hcy), and tumor necrosis factor-alpha (TNF-α) than those of the CC genotype. Moreover, the FBG and Hcy levels were considerably higher in patients with T2DM who carried the CC or AC genotype of MTHFR A1298C than those of the AA genotype. No obvious association was observed between these MTHFR polymorphisms and cardiovascular risk in T2DM. Our study suggests that the genetic variations of MTHFR C677T and A1298C are significantly associated with T2DM susceptibility in the population of the Dali area of Yunnan Province, China.

Factor V Leiden, MTHFR, and FXIIIVal34Leu gene polymorphisms and their association with clinical features and risk of diabetic retinopathy in patients with type 2 diabetes.

Diabetic retinopathy (DR) is expanding to epidemic levels globally due to the progressing prevalence of diabetes mellitus (DM). In this study, the association between factor V Leiden (FVL), MTHFRC677T, and FXIIIVal34Leu polymorphisms and diabetic retinopathy was investigated in Eastern Iran. This case-control study enlisted the participation of 300 people (diabetic patients=100, diabetic retinopathy patients=100, healthy controls=100), and polymorphisms were examined by Tetra primer ARMS-PCR. The frequency of FVL (p=0.294) and FXIIIVal34Leu (P=0.349) polymorphism showed no significant results between the genotype frequency in the mentioned groups. In contrast, MTHFRC677T SNP was significantly different in diabetic patients and controls (P=0.008). The MTHFRC677T polymorphism was foundtobeconnectedwithincreased systolic blood pressure in patients who had the TT genotype (130.96±11.92mm/Hg; P=0.011). Our study recommended that the MTHFRC677T polymorphism may offer to DR development. Studies with larger sample sizes and a wider spectrum of populations are authorized to verify this finding.

A case of hyper-homocysteinemia carrying MTHFR gene polymorphism in cerebral sinus thrombosis and pulmonary embolism

A case of hyper-homocysteinemia carrying MTHFR gene polymorphism in cerebral sinus thrombosis and pulmonary embolism

Level of homocysteine and polymorphism of genes involved in folate metabolism in women with polycystic ovary syndrome

Background. Polycystic ovary syndrome (PCOS) is a multifactorial disease in the development of which gene polymorphism plays an important role. In recent years, data on the role of homocysteine (Hcy) in the formation of PCOS have appeared, and hyperhomocysteinemia is even considered one of the main symptoms of this disease. The causes of an impaired Hcy metabolism are varied and mainly depend on the condition of the genes encoding enzymes of the folate cycle. At the same time, available data on the effect of the 5,10-methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR) gene polymorphisms on the development of hyperhomocysteinemia and the risk of PCOS are few and contradictory. The purpose of the study was to investigate the polymorphisms of the main genes encoding enzymes of the folate cycle (MTHFR, MTR, MTRR) and to reveal their relationship with the level of Hcy in PCOS. Material and methods. One hundred and twenty-nine women aged 20–28 years were examined: the main group — 98 patients with PCOS, the control group — 31 healthy women. The serum content of Hcy was evaluated and a molecular genetic study was conducted to identify the MTHFR, MTR, and MTRR genes. Results. Polymorphic variants of genes involved in folate metabolism were found in both patients with PCOS and in healthy women. However, serum concentration of Hcy was significantly higher in PCOS. Analysis of the MTHFR C677T polymorphism gene showed that the presence of the mutant T allele was associated with an increased Hcy level (12.9 ± 0.2 μmol/l) and the risk of PCOS (odds ratio (OR) = 1.19; 95% confidence interval (CI) 0.52–2.71). In the presence of two T alleles, the level of Hcy (14.6 ± 0.3 µmol/L) and the risk of deve­loping PCOS (OR = 7.69; 95% CI 0.98–59.87) increased even further compared to the functionally “normal” C677C genotype. There was also an association between the MTHFR gene polymorphism at locus 1298 and PCOS whose strength depended on the number of pathological C alleles and was mediated by Hcy content, although this mutation was accompanied by a less significant increase in the level of Hcy than the mutation at locus 677. Compared to carriers of the homozygous A1298A genotype, the risk of developing PCOS was 5.7 times higher in patients with one C allele, and 7.3 times higher in the presence of two C alleles. The MTRR A66A and A66G genotypes were associated with a significant increase in the level of Hcy compared to that of the control group and were associated with an increased risk of PCOS. The mutant homozygous G66G genotype was more common in the control group and had no significant effect on Hcy concentration. It is not proved that the MTR gene is a candidate gene for the development of PCOS, and its polymorphic variants have a negative effect on the level of Hcy. The combination of MTHFR C677T and A1298C, MTHFR C677T and MTR A2756G, MTR A2756G and MTRR A66G gene mutations are associated with a greater increase in Hcy and the risk of developing PCOS compared to any individual monomutation. Conclusions. The MTHFR gene polymorphism and the synergistic effect of the MTHFR, MTR, MTRR gene mutations can be important genetic determinants for homocysteine levels and the risk of PCOS.

Association Between MTHFR Gene Polymorphism (A1298c) C&gt;A and Sensitivity to Cervical Cancer: A Meta-Analysis

We have investigated the association between methylenetetrahydrofolate reductase A1298C polymorphism and cervical cancer. A comprehensive search was conducted in Wanfang, China HowNet and PubMed databases to retrieve Chinese and English literature from the construction of the database to December 2019. Stata software was utilized to conduct the analysis of the five genetic models, while the odds ratio and 95% confidence interval were employed to assess the correlation. 12 pertinent publications were included with 3839 subjects (1546 patients and 2293 healthy control). There were no significant associations between A1298C and cervical cancer risk under recessive model, dominant model, allele model, co-dominant model. In the sub-analysis by ethnic groups, a significant association between A1298C and cervical cancer risk under recessive model in Asia. It is suggested a potential association between methylenetetrahydrofolate reductase gene polymorphism A1298C and an elevated susceptibility to cervical cancer in the Asian population, specifically under the recessive model.

Allelic variants of folate metabolism genes among students in Arctic Russia

AIM: To assess the prevalence of allelic variants of folate metabolism genes in Russian and Indian students living in the Arctic region of Russia.&#x0D; METHODS: A cross-sectional study was performed on a sample of ethnic Indians, students at the Faculty of General Practitioner of the Northern State Medical University, living in Arkhangelsk and ethnic Russians who were born in Arkhangelsk region. The study included 117 ethnic Indians and 195 Russian participants. A survey of participants and a molecular genetic study of the nucleotide sequence in the genes involved in the exchange of folate by real-time PCR were carried out. A group of ethnic Indians was compared with Russians according to 4 variants of the nucleotide sequence in the genes involved in folate metabolism.&#x0D; RESULTS: Statistically significant differences were observed in the frequency distribution of the T allele of the MTHFR gene polymorphism (rs1801133) (p=0.001). Among Russians, the occurrence of the T allele was found to be 26.3%, whereas among Indians, it was only 7.7%. At the same time, no statistically significant differences were found in the distribution of other polymorphic variants of the folate cycle genes between the groups. The mutant allele G of the MTRR gene polymorphism (rs1801394) was the most frequently occurring polymorphism among the participants.&#x0D; CONCLUSION: Greater prevalence of the unfavorable allele T of the MTHFR gene (rs1801133) compared to the group of ethnic Indians may suggest an elevated susceptibility to folate metabolism disorders in the Russian population

A study on the correlation between MTHFR and folic acid combined with trace elements for the prevention of fetal malformations in the first trimester of pregnancy.

This study aims to elucidate and examine the intricate interrelation between 5,10-methylenetetrahydrofolate reductase (MTHFR), combined folic acid (FA), and trace element supplementation as a preventive strategy against fetal malformations during the inaugural trimester of pregnancy. Eighty pregnant women selected from our hospital's early obstetrics department from May 2021 to August 2021. Pregnant women are divided into the MTHFR combined group, FA, and trace element group. Comparing the basic data of patients, analyzing adverse reactions in pregnant women, and total birth risk situation, detecting MTHFR gene polymorphisms, and analyzing the correlation between MTHFR and FA in the prevention of fetal malformations in early pregnancy. Compared with the north, the southern region is more prone to FA deficiency. MTHFR degree of the MTHFR combined group was positively correlated with fetal malformations. The deformity rate was negatively correlated with FA and trace elements. Pregnant women in the first trimester may have fetal malformations, and the malformation rate is negatively correlated with FA and positively correlated with MTHFR level. Importantly, the inverse relationship between FA supplementation and malformation incidence underscores its significance as a preventive measure.

MTHFR, NR3C1, FKBP5, and CRHR1 gene polymorphisms are strongly associated with depressive disorder susceptibility: A meta-analysis and power analysis

Depression is a polygenic and complex condition; however, most genetic analyses have yielded insignificant associations between candidate genes and depressive disorder. This is primarily due to the lack of reproducible findings in genome-wide association studies (GWAS). In this meta-analysis, we extensively investigated the implications of genetic polymorphisms in seven candidate genes for depression. We conducted a thorough search of electronic databases, including Google Scholar, Cochrane, PubMed, Medline, Embase, and PsycINFO, covering data from January 1997 to 2022. Our search identified approximately 3,500 published research papers related to this study. Among these, 81 studies met our eligibility criteria and focused on the six genes under study. These selected candidate genes for our meta-analysis included NR3C1, MTHFR, FKBP5, CRHR1, COMT, and TNF-α. The results of our meta-analysis on genetic polymorphisms indicate a significant association with depression at the 95% confidence interval (CI). When categorizing outcomes by different ethnic groups, our findings reveal significant results (p=<0.05) for Asian and Caucasian populations. This current meta-analysis provides valuable insights that can facilitate the use of these significantly associated genes for diagnosing the severity of depression or as indicators for treatment modalities in depression conditions.

Genetic variants of MTHFR gene in relation to folic acid levels and bone mineral density in Polish patients with inflammatory bowel disease

Lower bone mineral density (BMD) constitutes a common issue in inflammatory bowel disease (IBD). Studies often explore the association between BMD and folic acid level. The presented study aimed to evaluate the impact of MTHFR gene polymorphism and folic acid levels on BMD in patients with IBDs: Crohn’s disease (CD) and ulcerative colitis (UC). The study group comprised IBD patients and a healthy control group. BMD, T-score, and Z-score of the lumbar spine (L1-L4) and femoral neck (FN) were assessed using dual-energy X-ray absorptiometry. Folic acid level was determined using direct chemiluminescence, and the MTHFR 677C > T (rs1801133) and 1298A > C (rs1801131) genotyping were performed by HRMA. Our study found no significant differences in the folic acid levels between the groups. Patients with CD and UC presented a lower BMD, T-score, and Z-score of the FN and L1-L4 than the CG. UC patients who were homozygotes AA in loci c.1298A>C presented lower than controls lumbar spine L1-L4 BMD and T-score values. Regarding MTHFR 677 polymorphism, we found that IBD patients carrying CC genotype demonstrated lower than controls femoral neck Z-score, lumbar spine L1-L4 BMD, T-score and Z-score. MTHFR polymorphisms were found to have no impact on folic acid concentrations. IBD patients presented a higher risk of low BMD than the healthy controls, regardless of MTHFR 677 and 1298 genotypes. However, MTHFR polymorphism may influence on bone in IBD patients. Nevertheless, it appears essential to conduct further studies.

Prevalence of MTHFR Gene (C677T and A1298C) Polymorphism in the Syrian Coastal Area

Prevalence of MTHFR Gene (C677T and A1298C) Polymorphism in the Syrian Coastal Area