title: Correlation between methyltetrahydrofolate reductase (MTHFR) polymorphisms and isolated patent ductus arteriosus in Taiwan.
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.
authors.affiliation: 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.
authors.forename: Chia-Sheng
authors.initials: CS
authors.lastname: Chao
authors.affiliation: The Heart Center, Chen-Hsin General Hospital, Taipei 112, Taiwan, R.O.C. Electronic address: jengwei@mac.com.
authors.forename: Jeng
authors.initials: J
authors.lastname: Wei
authors.affiliation: Institute of Biomedical Sciences, National Sun Yat-sen University, Kaohsiung 804, Taiwan, R.O.C.
authors.forename: Hurng-Wern
authors.initials: HW
authors.lastname: Huang
authors.affiliation: 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.
authors.forename: Shyh-Chyun
authors.initials: SC
authors.lastname: Yang
mesh_terms: D000328:Adult; D000368:Aged; D004374:Ductus Arteriosus, Patent / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D012189:Retrospective Studies; D013624:Taiwan
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Congenital heart disease (CHD); Isolated patent ductus arteriosus; MTHFR; RFLP; Single nucleotide polymorphisms (SNPs).