A statin-dependent QTL for GATM expression is associated with statin-induced myopathy

Nature

Volumn 502, Issue 7471, 2013, Pages 377-380

  Mangravite, Lara M ^a   Engelhardt, Barbara E ^b,j   Medina, Marisa W ^c   Smith, Joshua D ^d   Brown, Christopher D ^e   Chasman, Daniel I ^f   Mecham, Brigham H ^a   Howie, Bryan ^b   Shim, Heejung ^b   Naidoo, Devesh ^c   Feng, Qiping ^g   Rieder, Mark J ^d,k   Chen, Yii Der I ^h   Rotter, Jerome I ^h   Ridker, Paul M ^f   Hopewell, Jemma C ⁱ   Parish, Sarah ⁱ   Armitage, Jane ⁱ   Collins, Rory ⁱ   Wilke, Russell A ^g   Nickerson, Deborah A ^d   Stephens, Matthew ^b   Krauss, Ronald M ^c   more..

^a SAGE BIONETWORKS   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f BRIGHAM AND WOMEN S HOSPITAL   (United States)

^g VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^h LOS ANGELES BIOMEDICAL RESEARCH INSTITUTE   (United States)

ⁱ UNIVERSITY OF OXFORD   (United Kingdom)

^j DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k ADAPTIVE BIOTECHNOLOGIES   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; SIMVASTATIN;

CARDIOVASCULAR DISEASE; DIABETES; ENZYME; GENE EXPRESSION; META-ANALYSIS; STEROL; TOXICITY;

ARTICLE; CONTROLLED STUDY; DRUG EFFECT; DRUG EXPOSURE; DRUG INTERACTION; ENZYME SYNTHESIS; GATM GENE; GENE; GENE EXPRESSION; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; IN VITRO STUDY; LYMPHOBLASTOID CELL LINE; MYOPATHY; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS;

AMIDINOTRANSFERASES; CELL LINE; CHOLESTEROL; GENE EXPRESSION REGULATION; GENE KNOCKDOWN TECHNIQUES; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; LYMPHOCYTES; MUSCULAR DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI; SIMVASTATIN; STEROL REGULATORY ELEMENT BINDING PROTEINS; TRANSCRIPTION, GENETIC;

EID: 84885864334     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature12508     Document Type: Article

References (40)

1. Cholesterol Treatment Trialists' (CTT) Collaborators. Efficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90,056 participants in 14 randomised trials of statins. Lancet 366, 1267-1278 (2005).
2. Simon, J. A. et al. Phenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) Study. Am. J. Cardiol. 97, 843-850 (2006).
3. Ridker, P. M. et al. Rosuvastatin to prevent vascular events inmen and womenwith elevated C-reactive protein. N. Engl. J. Med. 359, 2195-2207 (2008).
4. Fernandez, G., Spatz, E. S., Jablecki, C. & Phillips, P. S. Statin myopathy: a common dilemma not reflected in clinical trials. Cleve. Clin. J. Med. 78, 393-403 (2011).
5. Rajpathak, S. N. et al. Statin therapy and risk of developing type 2 diabetes: a meta-analysis. Diabetes Care 32, 1924-1929 (2009).
6. Teslovich, T. M. et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466, 707-713 (2010).
7. Barber, M. J. et al. Genome-wide association of lipid-lowering response to statins in combined study populations. PLoS ONE 5, e9763 (2010).
8. Chasman, D. I. et al. Pharmacogenetic study of statin therapy and cholesterol reduction. J. Am. Med. Assoc. 291, 2821-2827 (2004).
9. Trompet, S. et al. Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses. BMC Med. Genet. 12, 131 (2011).
10. The. SEARCH Collaborative Group SLCO1B1 variants and statin-induced myopathy-a genomewide study. N. Engl. J. Med. 359, 789-799 (2008).
11. Brem, R. B., Storey, J. D., Whittle, J. & Kruglyak, L. Genetic interactions between polymorphisms that affect gene expressionin yeast.Nature436,701-703(2005).
12. Grundberg, E. et al. Global analysis of the impact of environmental perturbation on cis-regulation of gene expression. PLoS Genet. 7, e1001279 (2011).
13. Romanoski, C. E. et al. Systems genetics analysis of gene-by-environment interactions in human cells. Am. J. Hum. Genet. 86, 399-410 (2010).
14. Maranville, J. C. et al. Interactions between glucocorticoid treatment and cis-regulatory polymorphisms contribute to cellular response phenotypes. PLoS Genet. 7, e1002162 (2011).
15. Smirnov, D. A. et al. Genetic variation in radiation-induced cell death. Genome Res. 332-339 (2011).
16. Brown, M. S. & Goldstein, J. L. The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor. Cell 89, 331-340 (1997).
17. Morley, M. et al. Genetic analysis of genome-wide variation in human gene expression. Nature 430, 743-747 (2004).
18. Stranger, B. E. et al. Population genomics of humangene expression.Nature Genet. 39, 1217-1224 (2007).
19. Caliskan, M., Cusanovich, D. A., Ober, C. & Gilad, Y. The effects of EBV transformation on gene expression levels and methylation profiles. Hum. Mol. Genet. 20, 1643-1652 (2011).
20. Choy, E. et al. Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. PLoS Genet. 4, e1000287 (2008).
21. Mangravite, L. M. et al. Combined influence of LDLR and HMGCR sequence variation on lipid-lowering response to simvastatin. Arterioscler. Thromb. Vasc. Biol. 30, 1485-1492 (2010).
22. Medina, M. W. et al. Coordinately regulated alternative splicing of genes involved in cholesterol biosynthesis and uptake. PLoS ONE 6, e19420 (2011).
23. Stephens, M. & Balding, D. J. Bayesian statistical methods for genetic association studies. Nature Rev. Genet. 10, 681-690 (2009).
24. Leek, J. T. & Storey, J. D. Capturing heterogeneity in gene expression studies by surrogate variable analysis. PLoS Genet. 3, e161 (2007).
25. Innocenti, F. et al. Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. PLoS Genet. 7, e1002078 (2011).
26. Köttgen, A. et al. Multiple loci associated with indices of renal function and chronic kidney disease. Nature Genet. 41, 712-717 (2009).
27. Mareedu, R. K. et al. Use of an electronic medical record to characterize cases of intermediate statin-induced muscle toxicity. Prev. Cardiol. 12, 88-94 (2009).
28. Choe, C. U. et al. L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome. Hum. Mol. Genet. 22, 110-123 (2013).
29. Ide, T. et al. GAMT, a p53-inducible modulator of apoptosis, is critical for the adaptive response to nutrient stress. Mol. Cell 36, 379-392 (2009).
30. Edvardson, S. et al. l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation. Mol. Genet. Metab. 101, 228-232 (2010).
31. Pressman, S. & Rotter, J. I. Epstein-Barr virus transformation of cryopreserved lymphocytes: prolonged experience with technique. Am. J. Hum. Genet. 49, 467 (1991).
32. Mecham, B. H., Nelson, P. S. & Storey, J. D. Supervised normalization of microarrays. Bioinformatics 26, 1308-1315 (2010).
33. Storey, J. D. A direct approach to false discovery rates. J. R. Stat. Soc. 64, 479-498 (2002).
34. Subramanian, A., Kuehn, H., Gould, J., Tamayo, P. & Mesirov, J. P. GSEA-P: a desktop application for Gene Set Enrichment Analysis. Bioinformatics 23, 3251-3253 (2007).
35. Servin, B. & Stephens, M. Imputation-based analysis of association studies: candidate regions and quantitative traits. PLoS Genet. 3, e114 (2007).
36. Guan, Y. & Stephens, M. Practical issues in imputation-based association mapping. PLoS Genet. 4, e1000279 (2008).
37. Wilke, R. A. et al. Identifying genetic risk factors for serious adverse drug reactions: current progress and challenges. Nature Rev. Drug Discov. 6, 904-916 (2007).
38. Hopewell, J. C. et al. Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study. Eur. Heart J. 34, 982-992 (2013).
39. Ernst, J. & Kellis, M. ChromHMM: automating chromatin-state discovery and characterization. Nature Methods 9, 215-216 (2012).
40. Kent, W. J. et al. The human genomebrowser atUCSC.GenomeRes. 12, 996-1006 (2002).