relationship between cad risk genotype in the chromosome 9p21 locus and gene expression. identification of eight new anril splice variantscad风险之间的关系在染色体9 p21基因型位点和基因表达。.pdfVIP

Relationship between CAD Risk Genotype in the Chromosome 9p21 Locus and Gene Expression. Identification of Eight New ANRIL Splice Variants 1. 2. 2 2 ¨ 1 Lasse Folkersen *, Theodosios Kyriakou , Anuj Goel , John Peden , Anders Malarstig , Gabrielle 1 1 2 Paulsson-Berne , Anders Hamsten Hugh Watkins on behalf of the PROCARDIS consortia , Anders 3 1 1 Franco-Cereceda , Anders Gabrielsen , Per Eriksson 1 Department of Medicine, Karolinska Institute, Stockholm, Sweden, 2 Welcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, 3 Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden Abstract 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 perfor