Lack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study.
AuthorsHoran, Paul G
Allen, Adrian R
Hughes, Anne E
Patterson, Chris C
McGlinchey, Paul G
Jardine, Tracy C L
McKeown, Pascal P
AffiliationRegional Medical Cardiology Centre, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, Northern Ireland, UK. firstname.lastname@example.org
MADS Domain Proteins
Myogenic Regulatory Factors
Polymerase Chain Reaction
MetadataShow full item record
CitationLack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study. 2006, 7:65 BMC Med. Genet.
JournalBMC medical genetics
AbstractBACKGROUND: 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.
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