ArticlePloS one2010
Novel association strategy with copy number variation for identifying new risk Loci of human diseases.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 30 citations in OpenAlex.
- Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.PloS one · 2013Trial
- Identification of novel functional brain proteins for treatment-resistant schizophrenia: Based on a proteome-wide association study.European psychiatry : the journal of the Association of European Psychiatrists · 2023Article
- Guanidino acid hydrolysis by the human enzyme annotated as agmatinase.Scientific reports · 2022Article
- Pairwise Heuristic Sequence Alignment Algorithm Based on Deep Reinforcement Learning.IEEE open journal of engineering in medicine and biology · 2021Article
- From the Eukaryotic Molybdenum Cofactor Biosynthesis to the Moonlighting Enzyme mARC.Molecules (Basel, Switzerland) · 2018Review
- Genomic structural variations for cardiovascular and metabolic comorbidity.Scientific reports · 2017Article
- Genome-wide association study of copy number variation with lung function identifies a novel signal of association near BANP for forced vital capacity.BMC genetics · 2016Article
- The mammalian molybdenum enzymes of mARC.Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2015Review
- Common genetic variants and gene expression associated with white matter microstructure in the human brain.NeuroImage · 2014Article
- Measurement of absolute copy number variation reveals association with essential hypertension.BMC medical genomics · 2014Article
- Combined analysis with copy number variation identifies risk loci in lung cancer.BioMed research international · 2014Article
- The impact of genomics on pediatric research and medicine.Pediatrics · 2012Review
- Expression profiling in neuropsychiatric disorders: emphasis on glutamate receptors in bipolar disorder.Pharmacology, biochemistry, and behavior · 2012Review
- Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU.Pharmacogenomics · 2012Article
- A preliminary study of copy number variation in Tibetans.PloS one · 2012Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundCopy 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
findingsHere, 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.
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