Genetic Variants in the Methylenetetrahydrofolate Reductase Gene in Egyptian Children with Conotruncal Heart Defects and their Mothers
Journal Title: Macedonian Journal of Medical Sciences (MJMS) - Year 2012, Vol 5, Issue 1
Abstract
Aim: This study aimed at evaluation of MTHFR 677C/T and 1298A/C polymorphisms in MTHFR gene as maternal risk factors in conotruncal heart defects (CTDs). Material and Methods: Thirty cases with CTDs and their mothers and thirty control children and their mothers were studied. Medical and nutritional histories for all mothers were taken with emphasis on folate intake. The mutations in MTHFR gene are a C to T substitution at base pair 677 and a A to C at base pair1298 were investigated by polymerase-chain reaction, followed by restriction enzyme digestion and detection by electrophoresis. Results: Folic acid intake was below the recommended daily allowance in case mothers compared to control mothers. No significant difference between patients and control group or their mothers regarding MTHFR gene polymorphisms at exon 4. Significant difference between case and control groups and between their mothers regarding MTHFR gene polymorphisms at exon 7. Homozygous genotype frequencies of MTHFR at position 1298 was significantly higher in cases and their mothers with an odds ratio 56 (95% confidence interval 10.3-303.7). Conclusion: Egyptian population may have high incidence of MTHFR polymorphism at exon 7 rather than at exon 4. Preconception folate intake might decrease MTHFR polymorphism at exon 7 and decrease risk of CTD.
Authors and Affiliations
Alyaa Kotby| Faculty of Medicine, Ain Shams University - Pediatric Department, Cairo, Egypt, Mona Anwar| National Research Centre - Research on Children with Special Needs Department, Cairo, Egypt, Ola Abd El-Aziz El-Masry| Faculty of Medicine, Ain Shams University - Pediatric Department, Cairo, Egypt, Mostafa Awady| National Research Centre - Microbial Biotechnology Department, Cairo, Egypt, Ali El-Nashar| National Research Centre - Research on Children with Special Needs Department, Cairo, Egypt, Nagwa A Meguid| National Research Centre - Research on Children with Special Needs Department, Cairo, Egypt
Concept of One Health - a New Professional Imperative
Aim. To present the challenges of modern veterinary medicine, the need for medical cooperation, ways to accomplish cooperation and the benefits of the One Health concept with one goal - Health for All. Methods. Review...
Enthesopathy and the Cutaneous Disease Activities in Psoriatic Arthritis
Aim: To investigate entheseal abnormalities by using Leeds Enthesitis Index (LEI) score in Psoriatic arthritis (PsA). Also, to find the correlation of LEI score and parameters of the activities of the cutaneous disease...
An Overview of Introducing Various Laboratory Tests for Diagnosis of Human Brucellosis in the Republic of Macedonia
Aim. To present various laboratory tests introduced for diagnosis of human brucellosis in the Republic of Macedonia. Methods. Various laboratory tests were implemented in our lab, as screening or confirmatory tests, s...
Total and Intra-Abdominal Fat Distribution in Obese Adolescents Using Different Techniques: Anthropometry, BIA and CT
Objectives: Assess the association between the anthropometric measurements of obesity, body composition with total and regional fat areas determined by CT in obese adolescents. Patients and method: 33 obese adolescents...
Preemptive Epidural Analgesia with Bupivacaine and Sufentanyl and the Effects of Epiduraly Added Epinephrine for Thoracic Surgery
Aim. The aim of the study was to determine if preemptive epidural analgesia in thoracic surgery reduces postoperative pain, and to compare these effects in relation to the usage of epinephrine. Material and Methods. Si...