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- Title
Lack of MEF2A Δ7aa mutation in Irish families with early onset ischaemic heart disease, a family based study.
- Authors
Horan, Paul G; Allen, Adrian R; Hughes, Anne E; Patterson, Chris C; Spence, Mark; McGlinchey, Paul G; Belton, Christine; Jardine, Tracy CL; McKeown, Pascal P
- 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 (Δ7aa) 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 Δ7aa region of the MEF2A gene was investigated based on amplicon size. Results: The Δ7aa 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 Δ7aa 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.
- Subjects
HEART diseases; ISCHEMIA; IRISH people; GENETICS; PROLINE; GLUTAMIC acid; DISEASES
- Publication
BMC Medical Genetics, 2006, Vol 7, p65
- ISSN
1471-2350
- Publication type
Article
- DOI
10.1186/1471-2350-7-65