title: Assessment of MEF2A mutations in myocardial infarction in Japanese patients.
abstract: BACKGROUND
  Recently, a mutation in the human MEF2A gene was reported to be responsible for an autosomal dominant form of coronary artery disease, so the purpose of the present study was to assess the significance of MEF2A mutations in Japanese subjects with myocardial infarction (MI).
  
  
  RESULTS
  The study population consisted of 589 control subjects recruited from the Suita study and 379 subjects with MI. The promoter, all the exons, and 3'-UTR regions of MEF2A were sequenced in 190 subjects with myocardial infarction. We found 2 amino acid length polymorphisms, a 7-amino acid deletion polymorphism, and a nonsense mutation (R447X) in exon 12. The length and deletion polymorphisms did not confer susceptibility to MI. Although the nonsense mutation was detected in 1 subject with MI, and in none of the control subjects, the impact of this mutation does not appear to be great; the subject had the MI while in his 70 s, had 2 major risk factors, and no family history of ischemic heart disease.
  
  
  CONCLUSIONS
  MEF2A polymorphism does not contribute appreciably to MI in the Japanese population.
authors.affiliation: National Cardiovascular Center, Suita, Japan.
authors.forename: Kazuaki
authors.initials: K
authors.lastname: Kajimoto
authors.forename: Keisuke
authors.initials: K
authors.lastname: Shioji
authors.forename: Naomi
authors.initials: N
authors.lastname: Tago
authors.forename: Hitonobu
authors.initials: H
authors.lastname: Tomoike
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nonogi
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Goto
authors.forename: Naoharu
authors.initials: N
authors.lastname: Iwai
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000368:Aged; D044466:Asian People; D016022:Case-Control Studies; D003324:Coronary Artery Disease / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007564:Japan; D064326:MEF2 Transcription Factors; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009203:Myocardial Infarction / Q000235:genetics*; D018006:Myogenic Regulatory Factors / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics
chemical_list: D020413:3' Untranslated Regions; D064326:MEF2 Transcription Factors; D018006:Myogenic Regulatory Factors