Association of maternal MTHFD1 and MTHFD2 gene polymorphisms with congenital heart disease in offspring / 中国当代儿科杂志

OBJECTIVES@#To study the association of maternal methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) and methylenetetrahydrofolate dehydrogenase 2 (MTHFD2) gene polymorphisms with congenital heart disease (CHD) in offspring.@*METHODS@#A hospital-based case-control study was conducted. The mothers of 683 children with CHD alone who attended Hunan Children's Hospital, from November 2017 to March 2020 were enrolled as the case group, and the mothers of 740 healthy children who attended the same hospital during the same period and did not have any deformity were enrolled as the control group. A questionnaire survey was performed to collect related exposure data, and then venous blood samples (5 mL) were collected from the mothers to detect MTHFD1 and MTHFD2 gene polymorphisms. A multivariate logistic regression analysis was used to evaluate the association of MTHFD1 and MTHFD2 gene polymorphisms with CHD. The four-gamete test in Haploview 4.2 software was used to construct haplotypes and evaluate the association between haplotypes and CHD. The generalized multifactor dimensionality reduction method and logistic regression analysis were used to examine gene-gene interaction and its association with CHD.@*RESULTS@#The multivariate logistic regression analysis showed that maternal MTHFD1 gene polymorphisms at rs11849530 (GA vs AA: OR=1.49; GG vs AA: OR=2.04) andat rs1256142 (GA vs GG: OR=2.34; AA vs GG: OR=3.25) significantly increased the risk of CHD in offspring (P<0.05), while maternal MTHFD1 gene polymorphisms at rs1950902 (AA vs GG: OR=0.57) and MTHFD2 gene polymorphisms at rs1095966 (CA vs CC: OR=0.68) significantly reduced the risk of CHD in offspring (P<0.05). The haplotypes of G-G-G (OR=1.86) and G-A-G (OR=1.35) in mothers significantly increased the risk of CHD in offspring (P<0.05). The gene-gene interaction analyses showed that the first-order interaction between MTHFD1 rs1950902 and MTHFD1 rs2236222 and the second-order interaction involving MTHFD1 rs1950902, MTHFD1 rs1256142, and MTHFD2 rs1095966 might be associated with risk of CHD (P<0.05).@*CONCLUSIONS@#Maternal MTHFD1 and MTHFD2 gene polymorphisms and their haplotypes, as well as the interaction between MTHFD1 rs1950902 and MTHFD1 rs2236222 and between MTHFD1 rs1950902, MTHFD1 rs1256142, and MTHFD2 rs1095966, are associated with the risk of CHD in offspring.

Association between folate metabolism-related genes and non-syndromic cleft lip and palate in the popu-lation of Shanxi Province / 实用口腔医学杂志

Objective:To investigate the association of the rsl801133 polymorphisms of the methylenetetrahydrofolate reductase (MTHFR)gene and rs2236225 polymorphisms of the methylenetetrahydrofolate dehydrogenase(MTHFD1)gene with non-syndromic cleft lip with or without cleft palate (NSCL/P)in Chinese population of Shanxi Province.Methods:The rsl801133 polymorphism of MTHFR gene and rs2236225 polymorphism of MTHFD1 gene were examined by PCR-RFLP in 265 patients with NSCL/P and 276 healthy controls.Data were statistically analysed.Results:The genotypic distribution of rsl801133 and rs2236225 was not deviated from the Hardy-Weinberg equilibrium.There was no significant difference in allele frequencies of rsl801133 and rs2236225 variants between patients with NSCL/P and healthy individuals(P <0.05).Conclusion:The polymorphism of MTHFR gene and MTHFD1 gene was not associated with NSCL/P in Chinese population of Shanxi Province.

Relationship between methylenetetrahydrofolate dehydrogenase G1958A polymorphism and the susceptibility to neural tube defects：a meta-analysis / 临床儿科杂志

10.3969/j.issn.1000-3606.2013.06.018

Carcinogênese de cabeça e pescoço: impacto do polimorfismo MTHFD1 G1958A / Head and neck carconogenesis: impact of MTHFD1 G1958A polymorphism

OBJETIVO: Investigar o polimorfismo MTHFD1 G1958A envolvido no metabolismo do folato no risco para o câncer de cabeça e pescoço e verificar a associação entre esse polimorfismo com fatores de risco e características clínico-histopatológicas. MÉTODOS: Estudo retrospectivo que avaliou o polimorfismo MTHFD1 G1958A em 694 indivíduos (240 pacientes e 454 controles), por meio da técnica de análise de polimorfismo de comprimento de fragmento de restrição. Para análise estatística foram utilizados os testes de regressão logística múltipla e qui-quadrado. RESULTADOS: Tabagismo e idade superior a 42 anos foram preditores da doença (p < 0,05). Os genótipos MTHFD1 1958GA ou AA foram associados ao tabagismo (p = 0,04) e etilismo (p = 0,03) e estão presentes em maior proporção em tumores com estádios mais avançados (p = 0,04) e em pacientes com menor sobrevida (p = 0,03). CONCLUSÃO: A presença do polimorfismo MTHFD1 G1958A associada aos hábitos tabagista e etilista aumenta o risco para desenvolvimento de câncer de cabeça e pescoço.

OBJECTIVE: To investigate the MTHFD1 G1958A polymorphism involved in the folate metabolism as a risk for head and neck cancer, and to find the association of the polymorphism with the risk factors and clinical and histopathological characteristics. METHODS: Retrospective study investigating MTHFD1 G1958A polymorphism in 694 subjects (240 patients in the Case Group and 454 in the Control Group) by Restriction Fragment Length Polymorphism (RFLP) Analysis. Multiple logistic regression and chi-square tests were used in the statistical analysis. RESULTS: Multivariable analysis showed that smoking and age over 42 years were disease predictors (p < 0.05). MTHFD1 1958GA or AA genotypes were associated with smoking (p = 0.04) and alcoholism (p = 0.03) and were more often found in more advanced stage tumors (p = 0.04) and in patients with a shorter survival (p = 0.03). CONCLUSION: The presence of MTHFD1 G1948A polymorphism associated with smoking and alcoholism raises the head and neck cancer risk.

The study of genome DNA methylation in systemic lupus erythematosus / 中华风湿病学杂志

Objective To study the genome DNA methylation in SLE and the related factors of DNA methylation. Methods Twenty-six cases with SLE and 20 controls were recruited to participate the study. Plasma Hcy, SAM, SAH and the MTHFR gene C677T polymorphism were measured in all patients and controls. Results {1} The SAM levels were lower significantly in SLE groups than in controls. The SAH levels were higher significantly in SLE groups than in controls. {2} There was significant inverse correlation between plasma Hcy level and SAM level (r=-0.897, P