Lack of MEF2A Δ7aa mutation in Irish families with early onset ischaemic heart disease, a family based study

• Main Authors: Belton Christine (Author), McGlinchey Paul G (Author), Spence Mark (Author), Patterson Chris C (Author), Hughes Anne E (Author), Allen Adrian R (Author), Horan Paul G (Author), Jardine Tracy CL (Author), McKeown Pascal P (Author)
• Format: Book
• Published: BMC, 2006-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.1186/1471-2350-7-65; 1471-2350
• Keywords: Internal medicine; RC31-1245; Genetics; QH426-470
• Source: BMC Medical Genetics, Vol 7, Iss 1, p 65 (2006)

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <p>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.</p> <p>Results</p> <p>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.</p> <p>Conclusion</p> <p>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.</p>