The BHF Family Heart
Study
Hunting culprit genes for heart
disease
BHF Professors Stephen Ball and Nilesh Samani collaborated as lead
researchers with colleagues in Leeds and Leicester* in the
BHF Family Heart Study.
At the time (2000-2005) it was the largest
ever reported study of families that began to unravel how our
genetic inheritance can predispose some people to coronary heart
disease.
The study analysed DNA kindly donated by
brothers and sisters from over 2,000 families in
the UK with premature (younger than 65) heart disease. Families
were recruited during the ‘Big Red Bus Tour’.
Big Red Bus Tour
The tour of 40 UK cities and towns was a quirky way to focus
both local and national media attention on the study and helped
generate more than 12,000 calls to the freephone
number in just four months. The tour was sponsored by
Sainsbury's.
An extra stop at the House of Commons persuaded 135
MPs to join the fight against heart disease by signing our
40th Anniversary pledge that "every child born today has the right
to live to at least 65 without suffering from avoidable heart
disease."
Genetic clues
Completed in 2005, the Family Heart Study
identified a region on chromosome 2 that seems to be linked to the
increased risk of some families to heart disease.
Importantly, it also showed that there is no
single culprit gene, suggesting that it is the cumulative effect of
a number of genes that predispose families to coronary heart
disease. Understanding this will be crucial for disease prevention
and treatment in the future.
The investment in recruiting the families is
providing many other research opportunities and, for example, the
samples are being currently studied in a world-leading project (The
Wellcome Trust Case Control Consortium) using the latest technology
to examine 500,000 gene variants with potentially
important but less powerful effects than detectable in the first
phase.
This consortium approach has already enabled Professor Samani
and colleagues to pinpoint ten new suspect
genes that may contribute to early heart disease. These
findings may provide us with vital information about how heart
problems can affect some families prematurely.
Listen to our podcast - Prof Samani talks about the
latest findings stemming from the Family Heart Study, and we
meet Arvind and Jasu Mistry who both suffered
heart attacks in middle-age and donated a sample of their DNA to
help with the study.
*BHF Family Heart Study Group
Leeds: SG Ball, AS Hall, AJ Balmforth, T Bishop, J Barrett, A
Maqbool, N Yuldasheva , BM Jackson, C Morrell, P Tooze, L
Barthorpe, N Burtonwood, M Dorsch, N Durham, C Forest, N Kelly, V
Hall, R Lawrance, J Oldham, E Rennie, A Smith, S Thompson, S Ellis,
S Mason, L Midgley, N Pleasants, R Cuthbert, M Platts, J Fox, S
Pickett, K Walters, J Nsengimana.
Leicester: NJ Samani, P Burton, M Mangino, P
Braund, S Adams, J Stribling, P de Souza, R Singh, J Ogleby, C
Ridge, E Logtens, L Hopwood, J Faulkes, J-R Clemitson, C Bodycote,
A Koekemoer, S Raleigh, R Dixon, N Sheehan, K Scurrah.
Reference
A genomewide
linkage study of 1,933 families affected by premature coronary
artery disease: The British Heart Foundation (BHF) Family Heart
Study.
Am J Hum Genet. 2005 Dec;77(6):1011-20
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