Karaca, N E Ege Üniversitesi - Tıp Fakültesi - Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Turkey , Karaca, E Ege Üniversitesi - Tıp Fakültesi - Tıbbi Genetik Anabilim Dalı, Turkey , Onay, H Ege Üniversitesi - Tıp Fakültesi - Tıbbi Genetik Anabilim Dalı, Turkey , Gunduz, C Ege Üniversitesi - Tıp Fakültesi - Tıbbi Biyoloji Anabilim Dalı, Turkey , Egemen, A Ege Üniversitesi - Tıp Fakültesi - Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Turkey , Ozkinay, F Ege Üniversitesi - Tıp Fakültesi - Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Turkey

Evaluation of mothers’ MTHFR genotype and other risk factors of neural tube defects in their children

14717

Aim: Neural tube defects (NTDs) are common congenital anomalies of the nervous system, comprising primarily of spina bifida and anencephaly. The etiology of NTDs is complex and the genetic and enviromental factors which appear to be involved in the etiology are imperfectly understood. This study was conducted to investigate the influence of genetic and enviromental factors, namely parental consanguinity, maternal obesity, maternal folate and vitamin B12 levels, parental age and the maternal MTHFR genotype on the risk of NTD in the child. Additionally, maternal multivitamin intake, maternal education and occupation status, socioeconomic levels and the type of delivery were also evaluated.Materials and Methods: Forty-five mothers who had children affected with NTD and forty-one mothers who had healthy children were included in the study. All mothers’ serum folate and vitamin B12 levels were measured, and the 677C T and the 1298A C polymorphisms of the MTHFR gene were analysed, and body mass index was calculated. A questionnaire was administered to detect the sociodemographic and socioeconomic status in both groups.Results: Comparison of the parameters of both groups revealed that frequencies of maternal obesity, consanguineuos marriages are higher, multivitamin intake and serum vitamin B12 levels are lower, and frequency of MTHFR 677TT genotype is higher in mothers of children with NTD.Conclusion: Parental consanguinity, inadequate multivitamin intake during pregnancy, maternal obesity and the MTHFR 677TT genotype may play a role in the etiology of NTDs.

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Neural tube defects , obesity , MTHFR

Ege Journal Of Medicine

42