MTHFR 677 C -%26gt; T Polymorphism and the Risk of Cardiac Septal Defects: A Pilot Study

作者：Youssef Omneya I; El Sayed Ghada M^*

来源：Life Science Journal-Acta Zhengzhou University Overseas Edition, 2012, 9(4): 4272-4275.

• Congenital heart disease
• folic acid
• MTHFR polymorphisms

Congenital heart defects (CHDs) are among the most common birth defects. The majority of CHDs are polygenic diseases affected by both genetic and environmental factors. Identification of the candidate genes in folate metabolism has suggested that the 677C -%26gt; T polymorphism in the Methylenetetrahydrofolate reductase (MTHFR) gene may be particularly associated with the risk of CHDs. The objective of this study was to investigate the effect of MTHFR 677C -%26gt; T locus polymorphism as a risk factor for cardiac septal defects (CSDs). Forty-two patients and 90 age and sex matched infants as control group were investigated. Eleven (26.2%) patients presented with isolated atrial septal defect, (ASD), 18 (42.9%) with isolated ventricular septal defect (VSD), 8(19%) with combined ASD+VSD, and 5 (11.9%) with atrioventicular canal (AV) canal. The investigation of MTHFR 677 C -%26gt; T polymorphism was determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The resulting odds ratio (OR) for patients carrying MTHFR C677T mutation was 1.8 (95% CI 0.86-3.84, x(2) = 1.48, p = 0.11) compared to the control and the OR for MTHFR 677CT genotype for patients was 2.13 (95% CI 0.97-4.69, x (2) =3.63, p = 0.06) attaining only marginal significance compared with TT and CC genotype in control. Patients with AV Canal showed significantly (p = 0.007) higher percentage of CT genotype (OR 1.19 95% CI 1.0-1.4) when compared with control. Patients with combined ASD and VSD showed significantly (p = 0.05) higher percentage of CT genotypes (OR 4.68 95% CI 1.03 -21.31) when compared to the control. In conclusion we suggest MTHFR 677CT genotype as a risk factor for AV canal and combined ASD + VSD, and because of the strong relation of this enzyme with folic acid we recommend preiconceptional folic acid supplementation and food fortification which might decrease CSDs in Egypt. [Omneya I Youssef and Ghada M El Sayed. MTHFR 677 C -%26gt; T Polymorphism and the Risk of Cardiac Septal Defects: A Pilot Study. Life Sci J 2012; 9(4): 4272-4275]. (ISSN: 1097-8135). http://www.lifesciencesite.com. 638

• 出版日期2012