title: Lack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study.
abstract: BACKGROUND
  Ischaemic heart disease (IHD) is a complex disease due to the combination of environmental and genetic factors. Mutations in the MEF2A gene have recently been reported in patients with IHD. In particular, a 21 base pair deletion (Delta7aa) in the MEF2A gene was identified in a family with an autosomal dominant pattern of inheritance of IHD. We investigated this region of the MEF2A gene using an Irish family-based study, where affected individuals had early-onset IHD.
  
  
  METHODS
  A total of 1494 individuals from 580 families were included (800 discordant sib-pairs and 64 parent-child trios). The Delta7aa region of the MEF2A gene was investigated based on amplicon size.
  
  
  RESULTS
  The Delta7aa mutation was not detected in any individual. Variation in the number of CAG (glutamate) and CCG (proline) residues was detected in a nearby region. However, this was not found to be associated with IHD.
  
  
  CONCLUSIONS
  The Delta7aa mutation was not detected in any individual within the study population and is unlikely to play a significant role in the development of IHD in Ireland. Using family-based tests of association the number of tri-nucleotide repeats in a nearby region of the MEF2A gene was not associated with IHD in our study group.
authors.affiliation: Regional Medical Cardiology Centre, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, Northern Ireland, UK. paul_horan@lineone.net
authors.forename: Paul G
authors.initials: PG
authors.lastname: Horan
authors.forename: Adrian R
authors.initials: AR
authors.lastname: Allen
authors.forename: Anne E
authors.initials: AE
authors.lastname: Hughes
authors.forename: Chris C
authors.initials: CC
authors.lastname: Patterson
authors.forename: Mark
authors.initials: M
authors.lastname: Spence
authors.forename: Paul G
authors.initials: PG
authors.lastname: McGlinchey
authors.forename: Christine
authors.initials: C
authors.lastname: Belton
authors.forename: Tracy C L
authors.initials: TC
authors.lastname: Jardine
authors.forename: Pascal P
authors.initials: PP
authors.lastname: McKeown
mesh_terms: D000367:Age Factors; D005260:Female; D006801:Humans; D026161:MADS Domain Proteins / Q000235:genetics*; D064326:MEF2 Transcription Factors; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017202:Myocardial Ischemia / Q000235:genetics*; D018006:Myogenic Regulatory Factors / Q000235:genetics*; D009660:Northern Ireland; D016133:Polymerase Chain Reaction
chemical_list: D026161:MADS Domain Proteins; D064326:MEF2 Transcription Factors; C578035:MEF2A protein, human; D018006:Myogenic Regulatory Factors