1. Gene-targeted analysis of copy number variants identifies 3 novel associations with coronary heart disease traits
- Author
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Costelloe, SJ, El-Sayed Moustafa, JS, Drenos, F, Palmen, J, Li, Q, Qiao, L, Whiting, S, Thomas, M, Kivimaki, M, Kumari, M, Hingorani, AD, Tzoulaki, I, Järvelin, MR, Marjo-Riitta, J, Ruokonen, A, Aimo, R, Hartikainen, AL, Pouta, A, Walters, RG, Blakemore, AI, Humphries, SE, Coin, LJ, and Talmud, PJ
- Subjects
Apolipoprotein B ,DNA Copy Number Variations ,Genotype ,Single-nucleotide polymorphism ,Coronary Disease ,Bioinformatics ,Polymorphism, Single Nucleotide ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Genetics ,Humans ,Copy-number variation ,Gene ,Genetics (clinical) ,030304 developmental biology ,Genetic association ,Apolipoproteins B ,0303 health sciences ,biology ,Apolipoprotein A-I ,Genome, Human ,Interleukin-6 ,Phenotype ,Toll-Like Receptor 4 ,030220 oncology & carcinogenesis ,Cohort ,biology.protein ,Human genome ,Cardiology and Cardiovascular Medicine ,Sterol Regulatory Element Binding Protein 1 ,Algorithms - 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 P P Conclusions— This study supports the use of CNV detection algorithms such as cnvHap as potential tools for the identification of novel CNVs, some of which show significant association and replication with coronary heart disease risk phenotypes. However, the functional basis for these associations requires further substantiation.
- Published
- 2016