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

Hdl Handle:
http://hdl.handle.net/10147/95642
Title:
Lack of MEF2A Delta7aa 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 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
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
Issue Date:
2006
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
MeSH:
Age Factors; Female; Humans; MADS Domain Proteins; Male; Middle Aged; Mutation; Myocardial Ischemia; Myogenic Regulatory Factors; Northern Ireland; Polymerase Chain Reaction
ISSN:
1471-2350

Full metadata record

DC FieldValue Language
dc.contributor.authorHoran, Paul Gen
dc.contributor.authorAllen, Adrian Ren
dc.contributor.authorHughes, Anne Een
dc.contributor.authorPatterson, Chris Cen
dc.contributor.authorSpence, Marken
dc.contributor.authorMcGlinchey, Paul Gen
dc.contributor.authorBelton, Christineen
dc.contributor.authorJardine, Tracy C Len
dc.contributor.authorMcKeown, Pascal Pen
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

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