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Gene-targeted analysis of copy number variants identifies 3 novel associations with coronary heart disease traits.
Journal article published in 2012 by
Sj J. Costelloe,
Js S. El-Sayed Moustafa 
,
Fotions Drenos,
Jutta Palmen,
Q. Li,
Li Qiao,
Stephen Whiting,
Michael Thomas,
Mika Kivimaki ,
Meena Kumari ,
Ad D. Hingorani,
Ioanna Tzoulaki,
Mr Järvelin,
Jarvelin Marjo-Riitta,
A. Ruokonen
and other authors.
,
Fotions Drenos,
Jutta Palmen,
Q. Li,
Li Qiao,
Stephen Whiting,
Michael Thomas,
Mika Kivimaki ,
Meena Kumari ,
Ad D. Hingorani,
Ioanna Tzoulaki,
Mr Järvelin,
Jarvelin Marjo-Riitta,
A. Ruokonen
and other authors.
Abstract
Background: Copy number variants (CNVs) are a major form of genomic variation, which may be implicated in complex disease phenotypes. However, investigation of the role of CNVs in coronary heart disease (CHD) traits has been limited. Methods and Results: We examined the use of the cnvHap algorithm for CNV detection, using data for 2500 men from the Second Northwick Park Heart Study (NPHS-II). An Illumina custom chip, including 722 single-nucleotide polymorphisms covering 76 coronary heart disease-trait genes, was used. Common CNVs were significantly associated (at P