Chia-Sheng Chao1, Jeng Wei2, Hurng-Wern Huang3, Shyh-Chyun Yang4. 1. Division of Cardiovascular Surgery, Department of Surgery, Kaohsiung Armed Forces General Hospital, Kaohsiung 802, Taiwan, R.O.C; School of Pharmacy, College of Pharmacy, Kaohsiung Medical University, Kaohsiung 807, Taiwan, R.O.C. 2. The Heart Center, Chen-Hsin General Hospital, Taipei 112, Taiwan, R.O.C. Electronic address: jengwei@mac.com. 3. Institute of Biomedical Sciences, National Sun Yat-sen University, Kaohsiung 804, Taiwan, R.O.C. 4. School of Pharmacy, College of Pharmacy, Kaohsiung Medical University, Kaohsiung 807, Taiwan, R.O.C; Department of Fragrance and Cosmetic Science, College of Pharmacy, Kaohsiung Medical University, Kaohsiung 807, Taiwan. Electronic address: scyang@kmu.edu.tw.
Abstract
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms are associated with the risk of patent ductus arteriosus (PDA) congenital heart defects. This study aimed to determine the association of these polymorphisms in patients with isolated PDA and in non-PDA patients group without congenital heart disease. METHODS: This retrospective case-controlled study was undertaken in 17 patients with isolated PDA and a control non-PDA group consisting of 34 subjects without congenital heart disease. MTHFR gene polymorphisms were analysed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). In addition, the genotype distribution of the MTHFR gene was compared among different ethnicities using the HapMap database. RESULTS: In contrast to the MTHFR C677T polymorphism, differences in the MTHFR A1298C genotype were observed between the two groups (P=0.002); a greater proportion of the PDA patients had the MTHFR 1298CC and 1298AA genotypes as compared to the non-PDA control group. After merging the data obtained from the Taiwanese participants with that from the HapMap database, genetic diversity of the MTHFR 1298AA genotype was observed. CONCLUSIONS: Thus, the MTHFR A1298C polymorphism is associated with isolated PDA in Taiwan. Larger studies are necessary to evaluate the prognostic value of determining MTHFR polymorphism in PDA.
BACKGROUND:Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms are associated with the risk of patent ductus arteriosus (PDA) congenital heart defects. This study aimed to determine the association of these polymorphisms in patients with isolated PDA and in non-PDA patients group without congenital heart disease. METHODS: This retrospective case-controlled study was undertaken in 17 patients with isolated PDA and a control non-PDA group consisting of 34 subjects without congenital heart disease. MTHFR gene polymorphisms were analysed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). In addition, the genotype distribution of the MTHFR gene was compared among different ethnicities using the HapMap database. RESULTS: In contrast to the MTHFRC677T polymorphism, differences in the MTHFRA1298C genotype were observed between the two groups (P=0.002); a greater proportion of the PDA patients had the MTHFR 1298CC and 1298AA genotypes as compared to the non-PDA control group. After merging the data obtained from the Taiwanese participants with that from the HapMap database, genetic diversity of the MTHFR 1298AA genotype was observed. CONCLUSIONS: Thus, the MTHFRA1298C polymorphism is associated with isolated PDA in Taiwan. Larger studies are necessary to evaluate the prognostic value of determining MTHFR polymorphism in PDA.
Authors: John M Dagle; Kelli K Ryckman; Cassandra N Spracklen; Allison M Momany; C Michael Cotten; Joshua Levy; Grier P Page; Edward F Bell; Waldemar A Carlo; Seetha Shankaran; Ronald N Goldberg; Richard A Ehrenkranz; Jon E Tyson; Barbara J Stoll; Jeffrey C Murray Journal: J Perinatol Date: 2018-12-05 Impact factor: 2.521