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dc.contributor.authorHoran, Paul G
dc.contributor.authorAllen, Adrian R
dc.contributor.authorHughes, Anne E
dc.contributor.authorPatterson, Chris C
dc.contributor.authorSpence, Mark
dc.contributor.authorMcGlinchey, Paul G
dc.contributor.authorBelton, Christine
dc.contributor.authorJardine, Tracy C L
dc.contributor.authorMcKeown, Pascal P
dc.date.accessioned2010-04-06T10:17:03Z
dc.date.available2010-04-06T10:17:03Z
dc.date.issued2006
dc.identifier.citationLack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study. 2006, 7:65 BMC Med. Genet.en
dc.identifier.issn1471-2350
dc.identifier.pmid16872533
dc.identifier.doi10.1186/1471-2350-7-65
dc.identifier.urihttp://hdl.handle.net/10147/95642
dc.description.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.
dc.language.isoenen
dc.subject.meshAge Factors
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshMADS Domain Proteins
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.subject.meshMutation
dc.subject.meshMyocardial Ischemia
dc.subject.meshMyogenic Regulatory Factors
dc.subject.meshNorthern Ireland
dc.subject.meshPolymerase Chain Reaction
dc.titleLack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study.en
dc.contributor.departmentRegional Medical Cardiology Centre, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, Northern Ireland, UK. paul_horan@lineone.neten
dc.identifier.journalBMC medical geneticsen
refterms.dateFOA2018-09-03T10:44:32Z
html.description.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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