Case Control Consortium data reveal new heart disease genes
9 February 2009
The findings, revealed through three genome-wide association studies published in 'Nature Genetics', demonstrate the value of large-scale genomic studies in discovering leads that could aid the development of new treatments.
In the first study, researchers analysing WTCCC data identified a gene cluster, SCLC22A3-LPAL2-LPA, with a strong link to coronary artery disease. The cluster includes a set of genes, LPA, previously linked to heart disease.
Another study compared Consortium data with a new genome-wide analysis of more than 2000 German individuals. The researchers identified two chromosomal regions not previously known to be associated with coronary artery disease. Within those they found single nucleotide polymorphisms (single letter changes in the DNA code) mapping to the MRAS gene that is highly expressed in the cardiovascular system, particularly the heart.
In the third study, European and American researchers identified three variants associated with early heart attacks. Among the genes affected is KCNE2, the mutation of which is known to cause irregular heartbeats.
Combined with previous reports from the WTCCC, the studies provide robust evidence for at least ten genes affecting the risk of coronary heart disease.
"This is a major advance in understanding the familial basis of coronary heart disease," said Professor Nilesh Samani, British Heart Foundation Professor of Cardiology at the University of Leicester and a principal investigator on the WTCCC, who is an author on each of the studies.
“Most of these genes had not hitherto been suspected of being involved in causing heart disease. Understanding how they increase risk of heart attacks may provide new means of preventing or treating coronary heart disease."
References
Tregouet D-A et al. Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary heart disease. Nature Genetics, published online before print 9 February 2009.
Erdmann J et al. New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nature Genetics, published online before print 9 February 2009.
Myocardial Infarction Genetics Consortium. Genome-wide association of early onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nature Genetics, published online before print 9 February 2009.