The matrix metalloproteinase-3 (MMP-3) 5A/6A promoter polymorphism is not associated with ischaemic heart disease: Analysis employing a family based approach

Article type: Research Article

Authors: McGlinchey, Paul G. | Spence, Mark S. | Patterson, Chris C. | Allen, Adrian R. | Murphy, Gillian | Fogarty, Damian | Evans, Alun | McKeown, Pascal P.^;

Affiliations: Regional Medical Cardiology Centre, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, UK | Department of Epidemiology and Public Health, Queen's University Belfast, Mulhouse Building, Grosvenor Road, Belfast, Northern Ireland BT12 6BJ, UK | Department of Medicine, Queen's University Belfast, Institute of Clinical Science, Grosvenor Road, Belfast, Northern Ireland BT12 6BJ, UK

Note: [] Corresponding author: Dr. Pascal McKeown, Department of Medicine, Queen's University Belfast, Institute of Clinical Science, Grosvenor Road, Belfast, Northern Ireland BT12 6BJ, UK. Tel.: +44 28 9063 4825; Fax: +44 28 9031 2907; E-mail: [email protected]

Abstract: Matrix metalloproteinase-3 (MMP-3) has been proposed as an important mediator of the atherosclerotic process. The possible role of the functional -1612 5A/6A polymorphism of the MMP-3 gene in the susceptibility to ischaemic heart disease (IHD) was investigated in a well-defined Irish population using two recently described family based tests of association. One thousand and twelve individuals from 386 families with at least one member prematurely affected with IHD were genotyped. Using the combined transmission disequilibrium test (TDT)/sib-TDT and the pedigree disequilibrium test (PDT), no association between the MMP-3 -1612 5A/6A polymorphism and IHD was found. Our data demonstrate that, in an Irish population, the MMP-3 -1612 5A/6A polymorphism is not associated with IHD.

Keywords: gene polymorphism, ischaemic heart disease, matrix metalloproteinase-3, stromelysin-1

Journal: Disease Markers, vol. 20, no. 6, pp. 289-294, 2004