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

doi:10.1186/1471-2350-7-65

BMC Medical Genetics

Volume 7

Viewing options:

Abstract
Full text
PDF (206KB)

Associated material:

Related literature:

Articles citing this article
on Google Scholar
on ISI Web of Science
on PubMed Central
Other articles by authors
on Google Scholar

Horan PG
Allen AR
Hughes AE
Patterson CC
Spence M
McGlinchey PG
Belton C
Jardine TC
McKeown PP

on PubMed

Horan PG
Allen AR
Hughes AE
Patterson CC
Spence M
McGlinchey PG
Belton C
Jardine TC
McKeown PP
Related articles/pages
on Google

on Google Scholar

on PubMed

Tools:

Post to:

Research article

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

Paul G Horan¹ , Adrian R Allen² , Anne E Hughes³ , Chris C Patterson⁴ , Mark Spence¹ , Paul G McGlinchey¹ , Christine Belton² , Tracy CL Jardine¹ and Pascal P McKeown¹^,2

¹Regional Medical Cardiology Centre, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, Northern Ireland, UK

²Department of Medicine, Queen's University Belfast, Institute of Clinical Science, Grosvenor Road, Belfast, BT12 6BJ, Northern Ireland, UK

³Department of Medical Genetics, Queen's University Belfast, Institute of Pathology, Grosvenor Road, Belfast, BT12 6BJ, Northern Ireland, UK

⁴Department of Epidemiology and Public Health, Queen's University Belfast, Mulhouse Building, Grosvenor Road, Belfast, BT12 6BJ, Northern Ireland, UK

author email corresponding author email

BMC Medical Genetics 2006, 7:65doi:10.1186/1471-2350-7-65


Published:	27 July 2006

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 (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.

Methods

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.

Results

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.

Conclusion

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.