Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphism and Infant’s Anthropometry at Birth

Identification of causal factors that influence fetal growth and anthropometry at birth is of great importance as they provide information about increased risk of disease throughout life. The association between maternal genetic polymorphism MTHFR(677)C>T and anthropometry at birth has been widely studied because of its key role in the one-carbon cycle. MTHFR(677) CT and TT genotypes have been associated with a greater risk of low birth weight, especially in case of deficient intake of folic acid during pregnancy. This study aimed to analyze the association between the maternal MTHFR(677)C>T genetic polymorphism and anthropometry at birth in a population with adequate folate consumption. We included 694 mother–newborn pairs from a prospective population-based birth cohort in Spain, in the Genetics, Early life enviroNmental Exposures and Infant Development in Andalusia (GENEIDA) project. Women were genotyped for MTHFR(677)C>T SNP by Q-PCR using TaqMan© probes. Relevant maternal and newborn information was obtained from structured questionnaires and medical records. Results showed that maternal MTHFR(677)C>T genotype was associated with newborn anthropometry. Genotypes CT or CT/TT showed statistically significant associations with increased or decreased risk of large-for-gestational-age (LGA) or small-for-gestational-age (SGA) based on weight and height, depending on the newborn’s sex, as well as with SGA in premature neonates. The relationships between this maternal genotype and anthropometry at birth remained despite an adequate maternal folate intake.

Detection of Methylene Tetrahydrofolate Reductase Gene Polymorphism (C677T) In Sudanese Patients with Chronic Myeloid Leukemia

Chronic myeloid leukaemia (CML) is a kind of cancer that affects the white blood cells and resort to progress slowly through many years. It’s occur at any age, but is most common in older (60-65 years) of age. This is a cross sectional study aimed to detect MTHFR gene polymorphism (C677T) among Sudanese patients diagnosed with Chronic Myeloid Leukaemia and conducted at the research laboratory of the national center of neurological sciences (NCNS), Khartoum, Sudan.50 patients with Chronic Myeloid Leukemia (CML) diagnosed as BCR-ABL positive by RT-PCR used as a cases and 50 apparently healthy individuals as a control. A 5 ml of blood samples were collected in EDTA anticoagulant container for DNA Extraction and white blood cells count, hemoglobin level and platelets count. Genotyping of the MTHFR was carried out using PCR technique and the SNP (C677T) confirmed by sequencing a subset of samples. The results were analyzed using bioinformatics tools. The results showed; the most affected age group in the patients was 51-60 years followed by 41-50 years which constituted 32% and 30%, respectively. The hematological findings revealed that, the mean of TWBCs was 47.4, HB was 11.9 for patients, 7.2 and 14.1 respectively for control group (P = 0.000). PLT was 313.5 for patients and 287.5 for control group (P = 0.187). MTHFR gene was detected in the all patients (198pb) by the PCR, Sequence results were aligned with the reference sequence of MTHFR gene, the polymorphic C >T was found to be matched with the registered mutation in NCBI data base. This study provides the first evidence for associations of MTHFR gene polymorphism with the risk of chronic myeloid leukemia in Sudanese patients. The C >T genotype of the rs 677 polymorphism in MTHFR gene may have a promoting effect on chronic myeloid leukemia. Keywords: Chronic myeloid leukaemia (CML), DNA, PCR, RT-PCR, MTHFR