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    Lack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study.

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    Authors
    Horan, Paul G
    Allen, Adrian R
    Hughes, Anne E
    Patterson, Chris C
    Spence, Mark
    McGlinchey, Paul G
    Belton, Christine
    Jardine, Tracy C L
    McKeown, Pascal P
    Affiliation
    Regional Medical Cardiology Centre, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, Northern Ireland, UK. paul_horan@lineone.net
    Issue Date
    2006
    MeSH
    Age Factors
    Female
    Humans
    MADS Domain Proteins
    Male
    Middle Aged
    Mutation
    Myocardial Ischemia
    Myogenic Regulatory Factors
    Northern Ireland
    Polymerase Chain Reaction
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    Citation
    Lack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study. 2006, 7:65 BMC Med. Genet.
    Journal
    BMC medical genetics
    URI
    http://hdl.handle.net/10147/95642
    DOI
    10.1186/1471-2350-7-65
    PubMed ID
    16872533
    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.
    Language
    en
    ISSN
    1471-2350
    ae974a485f413a2113503eed53cd6c53
    10.1186/1471-2350-7-65
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