Determination of methyl tetrahydrofolate reductase, TEAD2 and PAX3 gene polymorphisms in patients with spina bifida

In the present study, genotype and allel frequencies of Metilen Tetrahidrofolat Redüktaz (MTHFR), Transkripsiyon Faktör2 (TEAD2) and Paired-Box3 (PAX3) polymorphisms in patients with spina bifida (SB) were investigated. Anamnesis, physical examination and routine analyses of 67 patients applied to pediatric surgery clinics and diagnosed with spina bifida were included in the study.Control group included 80 patients with normal sacral findings. Gene polymorhisms of MTHFR, TEAD2 and PAX3 were investigated. A detailed survey including demographic characteristics and clinical history of all cases were performed.Study group (n=67) consisted of 26 (%38.8) girls, and 41 (%61.2) boys. Four subjects died during the study. Average age of study group was 2.46 ± 3.22 years, (1 month - 18 years), that of girls was 2.52 ± 3.80 years (1 month - 18 years) and boys? was 2.42 ± 3.22 years ( 1 month - 14 years). Average age of mothers was 28.15 ± 4.71 years (19 - 44 years). Two of Spina Bifida (SB) cases were meningocell (%3) and 65 were meningomyelocell (%97). Sixteen of mothers (%23.9) had an abortion history and 18 (%26.9) had a relative-marriage history. There was a congenital abnormality history in near relatives of of 14 patients (%20.9) and there was NTD in 8 of them (%57.1). Eleven mothers (%16.4) had a medication history while 56 (%83.6) did not use any medicine. Fırat University hospital is a regional hospital serving for a large region and 37 (%55.2) patients were from Elazığ and 30 (%44.8) were from other provinces.In conclusion, multifactoriel prosesses including genetic factors play role in etiopathogenesis of NTD. Results of the present study indicate that alterations in PAX3 allel frequencies may influence development of NTD and that environmental factors may contribute to these alterations. Further studies are required to enlighten etiology of SB.Keywords :Spina bifida, gene polymorphism, MTHFR, TEAD2, PAX3