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TI - The methylenetetrahydrofolate reductase gene variant (C677T) as a suscepti bility gene for tetralogy of Fallot.

SB - Rev Port Cardiol 2009 Jul;28(7-8):809-12 TA - Rev Port Cardiol IP - 7-8 PG - 809-12 DP - 2009 FAU - Marinho Cláudia C FAU - Alho Irina I FAU - Guerra António A FAU - Rego Carla C FAU - Areias José J FAU - Bicho Manuel M AU - Marinho C AU - Alho I AU - Guerra A AU - Rego C AU - Areias J AU - Bicho M Laboratório de Genética, Faculdade de Medicina de Lisboa, Lisboa, Portugal. cmarinho@fm.ul.pt AB - The aim of this study was to evaluate whether the cytosine-to-thymine muta tion at base 677 of the methylenetetrahydrofolate reductase gene (MTHFR C677T), which has been associated with neural tube defects and congenital oral cleft, is also associated with tetralogy of Fallot (TF), a congenital heart disease. The MTHFR C677T genotype was investigated in a sample of 38 children born with TF wh o underwent surgical repair in early life. Two hundred and fifty-one healthy ind ividuals were included as controls for allele and genotype frequencies. We found a higher prevalence of the T allele in TF compared to the control group (OR = 1 .675; 95% CI [1.022-2.743]; p = 0.05). The TT genotype increased by 4.856 the ri sk for this congenital disease (95% CI 1.308 12.448; p = 0.028). Our results sug gest that MTHFR polymorphism can be considered a susceptibility gene for this co ngenital heart disease. IS - 0870-2551 LA - eng PT - Type:Journal Article PMID - 19894660 MH - Genetic Predisposition to Disease MH - Polymorphism, Genetic EC 1.5.1.20 DA - 2009 11 09 DCOM - 2009 12 03 PL - Portugal UOF - Rev Port Cardiol 2009 Jul;28(7-8):809-12 19894660