1. Lack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study.
- Author
-
Horan PG, Allen AR, Hughes AE, Patterson CC, Spence M, McGlinchey PG, Belton C, Jardine TC, and McKeown PP
- Subjects
- Age Factors, Female, Humans, MEF2 Transcription Factors, Male, Middle Aged, Northern Ireland, Polymerase Chain Reaction, MADS Domain Proteins genetics, Mutation, Myocardial Ischemia genetics, Myogenic Regulatory Factors genetics
- 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., Conclusion: 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.
- Published
- 2006
- Full Text
- View/download PDF