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http://purl.uniprot.org/citations/20808825http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/20808825http://www.w3.org/2000/01/rdf-schema#comment"

Background

Copy number variations (CNV) are important causal genetic variations for human disease; however, the lack of a statistical model has impeded the systematic testing of CNVs associated with disease in large-scale cohort.

Methodology/principal findings

Here, we developed a novel integrated strategy to test CNV-association in genome-wide case-control studies. We converted the single-nucleotide polymorphism (SNP) signal to copy number states using a well-trained hidden Markov model. We mapped the susceptible CNV-loci through SNP site-specific testing to cope with the physiological complexity of CNVs. We also ensured the credibility of the associated CNVs through further window-based CNV-pattern clustering. Genome-wide data with seven diseases were used to test our strategy and, in total, we identified 36 new susceptible loci that are associated with CNVs for the seven diseases: 5 with bipolar disorder, 4 with coronary artery disease, 1 with Crohn's disease, 7 with hypertension, 9 with rheumatoid arthritis, 7 with type 1 diabetes and 3 with type 2 diabetes. Fifteen of these identified loci were validated through genotype-association and physiological function from previous studies, which provide further confidence for our results. Notably, the genes associated with bipolar disorder converged in the phosphoinositide/calcium signaling, a well-known affected pathway in bipolar disorder, which further supports that CNVs have impact on bipolar disorder.

Conclusions/significance

Our results demonstrated the effectiveness and robustness of our CNV-association analysis and provided an alternative avenue for discovering new associated loci of human diseases."xsd:string
http://purl.uniprot.org/citations/20808825http://purl.org/dc/terms/identifier"doi:10.1371/journal.pone.0012185"xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/author"Chen S."xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/author"Chen X."xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/author"Liu Y."xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/author"Li X."xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/author"Qin X."xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/author"Xu H."xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/author"Zhang Z."xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/author"Zhao G."xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/author"Wang P."xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/author"Zhu J."xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/author"Hu L."xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/author"Kong X."xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/date"2010"xsd:gYear
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/name"PLoS One"xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/pages"e12185"xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/title"Novel association strategy with copy number variation for identifying new risk Loci of human diseases."xsd:string
http://purl.uniprot.org/citations/20808825http://purl.uniprot.org/core/volume"5"xsd:string
http://purl.uniprot.org/citations/20808825http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/20808825
http://purl.uniprot.org/citations/20808825http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/20808825
http://purl.uniprot.org/uniprot/#_A0A0A0MRA3-mappedCitation-20808825http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/20808825
http://purl.uniprot.org/uniprot/#_A0A0A0MRM2-mappedCitation-20808825http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/20808825
http://purl.uniprot.org/uniprot/#_A0A0A0MTS7-mappedCitation-20808825http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/20808825
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