The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Relationship between CAD Risk Genotype in the Chromosome 9p21 Locus and Gene Expression. Identification of Eight New ANRIL Splice Variants
Open accessAbstract
BACKGROUND: Several genome-wide association studies have recently linked a group of single nucleotide polymorphisms in the 9p21 region with cardiovascular disease. The molecular mechanisms of this link are not fully understood. We investigated five different expression microarray datasets in order to determine if the genotype had effect on expression of any gene transcript in aorta, mammary artery, carotid plaque and lymphoblastoid cells. METHODOLOGY/PRINCIPAL FINDINGS: After multiple testing correction, no genes were found to have relation to the rs2891168 risk genotype, either on a genome-wide scale or on a regional (8 MB) scale. The neighbouring ANRIL gene was found to have eight novel transcript variants not previously known from literature and these varied by tissue type. We therefore performed a detailed probe-level analysis and found small stretches of significant relation to genotype but no consistent associations. In all investigated tissues we found an inverse correlation between ANRIL and the MTAP gene and a positive correlation between ANRIL and CDKN2A and CDKN2B. CONCLUSIONS/SIGNIFICANCE: Investigation of relation of the risk genotype to gene expression is complicated by the transcript complexity of the locus. With our investigation of a range of relevant tissue we wish to underscore the need for careful attention to the complexity of the alternative splicing issues in the region and its implications to the design of future gene expression studies.
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Cites
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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
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The International HapMap Project
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Genomewide Association Analysis of Coronary Artery Disease
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A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction
Helgadottir, A., Thorleifsson, G., Manolescu, A., Gretarsdottir, S., Blondal, T., Jonasdottir, A., Jonasdottir, A., Sigurdsson, A., Baker, A., Palsson, A., et al. (2007) · Science · doi:10.1126/science.1142842 · Cited by 1,594
A Common Allele on Chromosome 9 Associated with Coronary Heart Disease
McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A., Roberts, R., Cox, D. R., Hinds, D. A., Pennacchio, L. A., Tybjaerg-Hansen, A., Folsom, A. R., et al. (2007) · Science · doi:10.1126/science.1142447 · Cited by 1,587
INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis
Liu, Y., Sanoff, H. K., Cho, H., Burd, C. E., Torrice, C., Mohlke, K. L., Ibrahim, J. G., Thomas, N. E., & Sharpless, N. E. (2009) · PLoS ONE · doi:10.1371/journal.pone.0005027 · Cited by 248
Cited by
Holdt, L. M., Hoffmann, S., Sass, K., Langenberger, D., Scholz, M., Krohn, K., Finstermeier, K., Stahringer, A., Wilfert, W., Beutner, F., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003588 · Cited by 397
Hannou, S. A., Wouters, K., Paumelle, R., & Staels, B. (2015) · Trends in Endocrinology & Metabolism · doi:10.1016/j.tem.2015.01.008 · Cited by 159
Motterle, A., Pu, X., Wood, H., Xiao, Q., Gor, S., Liang Ng, F., Chan, K., Cross, F., Shohreh, B., Poston, R. N., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds224 · Cited by 160
Expression of Chr9p21 genes CDKN2B (p15), CDKN2A (p16, p14) and MTAP in human atherosclerotic plaque
Holdt, L. M., Sass, K., Gäbel, G., Bergert, H., Thiery, J., & Teupser, D. (2011) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2010.06.029 · Cited by 143
Cdkn2a Is an Atherosclerosis Modifier Locus That Regulates Monocyte/Macrophage Proliferation
Kuo, C.-L., Murphy, A. J., Sayers, S., Li, R., Yvan-Charvet, L., Davis, J. Z., Krishnamurthy, J., Liu, Y., Puig, O., Sharpless, N. E., et al. (2011) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.111.234492 · Cited by 73
Metadata
- Authors
- Folkersen, L., Kyriakou, T., Goel, A., Peden, J., Mälarstig, A., Paulsson-Berne, G., Hamsten, A., consortia, H. W. O. B. O. T. P., Franco-Cereceda, A., Gabrielsen, A., & Eriksson, P.
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2009-11-02
- Volume
- 4
- Issue
- 11
- Pages
- e7677
- ISSN
- 1932-6203 (ISSN-L)
- OpenAlex
- W2020097689
- Cited by
- 169
- References
- 7
- FWCI
- 8.02
- Type
- journal article
- Language
- en
- Open access
- gold
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- Folkersen, L., Kyriakou, T., Goel, A., Peden, J., Mälarstig, A., Paulsson-Berne, G., Hamsten, A., consortia, H. W. O. B. O. T. P., Franco-Cereceda, A., Gabrielsen, A., & Eriksson, P. (2009). Relationship between CAD Risk Genotype in the Chromosome 9p21 Locus and Gene Expression. Identification of Eight New ANRIL Splice Variants. PLoS ONE. https://doi.org/10.1371/journal.pone.0007677
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