A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase

Birth Defects Research. Part A, Clinical and Molecular Teratology
Kim L McBrideJohn W Belmont

Abstract

Aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS) are obstructive malformations of the left ventricular outflow tract that account for a significant proportion of infant mortality. Two previous small case-control studies suggested methylenetetrahydrofolate reductase (MTHFR) polymorphisms may be associated with this group of malformations. We used a family-based association design with inclusion criteria of nonsyndromic diagnosis of AVS, CoA, and HLHS, powered to detect an odds ratio for the heterozygote of <1.5. A total of 207 affected offspring-parent trios were genotyped by restriction fragment length polymorphisms at the two common polymorphic loci C677T and A1298C. Error rate estimation based on replicate samples was 0.76%. Mendelian inconsistency at either polymorphism was noted in 10 trios, for a calculated undetected error rate of 1.95%. A total of 197 trios were analyzed using the transmission disequilibrium test. Significant association was not found between both the C677T or A1298C polymorphisms and presence of a heart defect, whether analyzed as a group, or by sex, ethnicity, or specific diagnosis. A log-linear analysis did not find increased relative risk based o...Continue Reading

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Citations

Jun 5, 2012·Pediatric Cardiology·Norma A Balderrábano-SaucedoAlfredo Vizcaíno-Alarcón
Apr 6, 2012·Cardiology in the Young·Karen E ChristensenRima Rozen
Dec 25, 2009·Circulation. Cardiovascular Genetics·Elizabeth GoldmuntzLaura E Mitchell
Jan 30, 2013·International Journal of Molecular Sciences·Seyyed Reza PishvaMohammad Reza Sabri
Dec 27, 2011·Revista Española De Cardiología·Rocío Sánchez-UrbinaEliakym Arámbula-Meraz
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May 17, 2005·Prenatal Diagnosis
May 3, 2008·Birth Defects Research. Part A, Clinical and Molecular Teratology·Lydi M J W van DrielRégine P M Steegers-Theunissen
Apr 14, 2007·American Journal of Medical Genetics. Part a·Anna Verkleij-HagoortRégine Steegers-Theunissen
Aug 6, 2013·Birth Defects Research. Part A, Clinical and Molecular Teratology·Tanya BedardJohn D Dyck
Oct 12, 2011·Birth Defects Research. Part A, Clinical and Molecular Teratology·Lora J H BeanStephanie L Sherman
Sep 25, 2009·Birth Defects Research. Part A, Clinical and Molecular Teratology·Laura E MitchellElizabeth Goldmuntz
May 11, 2006·The American Journal of Clinical Nutrition·Tsunenobu Tamura, Mary Frances Picciano

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