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Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

Harper, Andrew R., Goel, Anuj, Grace, Christopher, Thomson, Kate L., Petersen, Steffen E., Xu, Xiao, Waring, Adam, Ormondroyd, Elizabeth, Kramer, Christopher M., Ho, Carolyn Y., Neubauer, Stefan, HCMR Investigators, Kolm, Paul, Kwong, Raymond, Dolman, Sarahfaye F., Desvigne-Nickens, Patrice, Dimarco, John P., Geller, Nancy, Kim, Dong-Yun, Zhang, Cheng, Weintraub, William, Abraham, Theodore, Anderson, Lisa, Appelbaum, Evan, Autore, Camillo, Berry, Colin, Biagini, Elena, Bradlow, William, Bucciarelli-Ducci, Chiara, Chiribiri, Amedeo, Choudhury, Lubna, Crean, Andrew, Dawson, Dana, Desai, Milind Y., Elstein, Eleanor, Flett, Andrew, Friedrich, Matthias, Heitner, Stephen, Helms, Adam, Jacoby, Daniel L., Kim, Han, Kim, Bette, Larose, Eric, Mahmod, Masliza, Mahrholdt, Heiko, Maron, Martin, McCann, Gerry, Michels, Michelle, Mohiddin, Saidi, Nagueh, Sherif, Newby, David, Olivotto, Iacopo, Owens, Anjali, Pierre-Mongeon, F., Prasad, Sanjay, Rimoldi, Ornella, Salerno, Michael, Schulz-Menger, Jeanette, Sherrid, Mark, Swoboda, Peter, van Rossum, Albert, Weinsaft, Jonathan, White, James, Williamson, Eric, Tadros, Rafik, Ware, James S., Bezzina, Connie R., Farrall, Martin, Watkins, Hugh·2021·Nature Genetics
DOI 10.1038/s41588-020-00764-0PMC PMC8240954
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  1. Harper, A. R., Parikh, V. N., Goldfeder, R. L., Caleshu, C. & Ashley, E. A. Delivering clinical grade sequencing and genetic test interpretation for cardiovascular medicine. Circ. Cardiovasc. Genet. 10, e001221 (2017). · DOI
  2. Watkins, H., Ashrafian, H. & Redwood, C. Inherited cardiomyopathies. N. Engl. J. Med. 364, 1643–1656 (2011). · DOI
  3. Thomson, K. L. et al. Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield. Genet. Med. 21, 1576–1584 (2019). · DOI
  4. Ingles, J. et al. Nonfamilial hypertrophic cardiomyopathy: prevalence, natural history and clinical implication. Circ. Cardiovasc. Genet. 10, e001620 (2017). · DOI
  5. Watanabe, K., Taskesen, E., Van Bochoven, A. & Posthuma, D. Functional mapping and annotation of genetic associations with FUMA. Nat. Commun. 8, 1826 (2017). · DOI · Paper page
  6. Neubauer, S. et al. Distinct subgroups in hypertrophic cardiomyopathy in the NHLBI HCM Registry. J. Am. Coll. Cardiol. 74, 2333–2345 (2019). · DOI
  7. Wooten, E. C. et al. Formin homology 2 domain containing 3 variants associated with hypertrophic cardiomyopathy. Circ. Cardiovasc. Genet. 6, 10–18 (2013). · DOI
  8. Ochoa, J. P. et al. Formin homology 2 domain containing 3 (FHOD3) is a genetic basis for hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 72, 2457–2467 (2018). · DOI
  9. Esslinger, U. et al. Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy. PLoS ONE 12, e0172995 (2017). · DOI
  10. Selcen, D. et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann. Neurol. 65, 83–89 (2009). · DOI · Paper page
  11. Odgerel, Z. et al. Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul. Disord. 20, 438–442 (2010). · DOI
  12. Villard, E. et al. A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. Eur. Heart J. 32, 1065–1076 (2011). · DOI
  13. Fumagalli, C. et al. Association of obesity with adverse long-term outcomes in hypertrophic cardiomyopathy. JAMA Cardiol. 5, 65–72 (2019). · DOI
  14. Ho, C. Y. et al. Genotype and lifetime burden of disease in hypertrophic cardiomyopathy. Circulation 138, 1387–1398 (2018). · DOI · Paper page
  15. Mahajan, A. et al. Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. Nat. Genet. 50, 1505–1513 (2018). · DOI · Paper page
  16. Pulit, S. L. et al. Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. Hum. Mol. Genet. 28, 166–174 (2019). · DOI
  17. Yengo, L. et al. Meta-analysis of genome-wide association studies for height and body mass index in ~700 000 individuals of European ancestry. Hum. Mol. Genet. 27, 3641–3649 (2018). · DOI
  18. Van der Harst, P. & Verweij, N. Identification of 64 novel genetic loci provides an expanded view on the genetic architecture of coronary artery disease. Circ. Res. 122, 433–443 (2018). · DOI · Paper page
  19. Roselli, C. et al. Multi-ethnic genome-wide association study for atrial fibrillation. Nat. Genet. 50, 1225–1233 (2018). · DOI
  20. Wuttke, M. et al. A catalog of genetic loci associated with kidney function from analyses of a million individuals. Nat. Genet. 51, 957–972 (2019). · DOI
  21. Malik, R. et al. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. Nat. Genet. 50, 524–537 (2018). · DOI
  22. Shah, S. et al. Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure. Nat. Commun. 11, 163 (2020). · DOI
  23. Franklin, S. S. et al. Predictors of new-onset diastolic and systolic hypertension: the Framingham Heart Study. Circulation 111, 1121–1127 (2005). · DOI
  24. Franklin, S. S., Jacobs, M. J., Wong, N. D., L’Italien, G. J. & Lapuerta, P. Predominance of isolated systolic hypertension among middle-aged and elderly US hypertensives: analysis based on National Health and Nutrition Examination Survey (NHANES) III. Hypertension 37, 869–874 (2001). · DOI
  25. Gersh, B. J. et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association task force on practice guidelines. Circulation 124, e783–e831 (2011).
  26. Harper, A. R. et al. A re-evaluation of the South Asian MYBPC3Δ25bp intronic deletion in hypertrophic cardiomyopathy. Circ. Genom. Precis. Med. 13, e002783 (2020). · DOI
  27. Walsh, R. et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet. Med. 19, 192–203 (2017). · DOI
  28. Das, S. et al. Next-generation genotype imputation service and methods. Nat. Genet. 48, 1284–1287 (2016). · DOI · Paper page
  29. Loh, P. R., Palamara, P. F. & Price, A. L. Fast and accurate long-range phasing in a UK Biobank cohort. Nat. Genet. 48, 811–816 (2016). · DOI · Paper page
  30. Turro, E. et al. Whole-genome sequencing of patients with rare diseases in a national health system. Nature 583, 96–102 (2020). · DOI · Paper page
  31. Zhou, W. et al. Efficiently controlling for case–control imbalance and sample relatedness in large-scale genetic association studies. Nat. Genet. 50, 1335–1341 (2018). · DOI · Paper page
  32. Yang, J., Zeng, J., Goddard, M. E., Wray, N. R. & Visscher, P. M. Concepts, estimation and interpretation of SNP-based heritability. Nat. Genet. 49, 1304–1310 (2017). · DOI
  33. Winkler, T. W. et al. Quality control and conduct of genome-wide association meta-analyses. Nat. Protoc. 9, 1192–1212 (2014). · DOI
  34. Storey, J. D. & Tibshirani, R. Statistical significance for genomewide studies. Proc. Natl Acad. Sci. USA 100, 9440–9445 (2003). · DOI · Paper page
  35. Nelson, C. P. et al. Association analyses based on false discovery rate implicate new loci for coronary artery disease. Nat. Genet. 49, 1385–1391 (2017). · DOI
  36. Mägi, R. & Morris, A. P. GWAMA: software for genome-wide association meta-analysis. BMC Bioinformatics 11, 288 (2010). · DOI
  37. Tadros, R. et al. Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect. Nat. Genet. https://doi.org/10.1038/s41588-020-00762-2 (2021). · DOI
  38. Yang, J., Lee, S. H., Goddard, M. E. & Visscher, P. M. GCTA: a tool for genome-wide complex trait analysis. Am. J. Hum. Genet. 88, 76–82 (2011). · DOI · Paper page
  39. Carvalho-Silva, D. et al. Open targets platform: new developments and updates two years on. Nucleic Acids Res. 47, D1056–D1065 (2019). · DOI
  40. Kamat, M. A. et al. PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations. Bioinformatics 35, 4851–4853 (2019). · DOI
  41. Pickrell, J. K. et al. Detection and interpretation of shared genetic influences on 42 human traits. Nat. Genet. 48, 709–717 (2016). · DOI · Paper page
  42. Barrett, J. C., Fry, B., Maller, J. & Daly, M. J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263–265 (2005). · DOI
  43. Toepfer, C. N. et al. Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin. Sci. Transl. Med. 11, eaat1199 (2019). · DOI
  44. Toepfer, C. N. et al. Myosin sequestration regulates sarcomere function, cardiomyocyte energetics, and metabolism, informing the pathogenesis of hypertrophic cardiomyopathy. Circulation 141, 828–842 (2020). · DOI
  45. Kelly, M. A. et al. Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel. Genet. Med. 20, 351–359 (2018). · DOI
  46. Wright, C. F. et al. Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting. Am. J. Hum. Genet. 104, 275–286 (2019). · DOI · Paper page
  47. Van Hout, C. V. et al. Exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank. Nature 586, 749–756 (2020). · DOI · Paper page
  48. Petersen, S. E. et al. UK Biobank’s cardiovascular magnetic resonance protocol. J. Cardiovasc. Magn. Reson. 18, 8 (2016). · DOI · Paper page
  49. Karam, R., Lever, H. M. & Healy, B. P. Hypertensive hypertrophic cardiomyopathy or hypertrophic cardiomyopathy with hypertension? A study of 78 patients. J. Am. Coll. Cardiol. 13, 580–584 (1989). · DOI
  50. Wasserstrum, Y. et al. The impact of diabetes mellitus on the clinical phenotype of hypertrophic cardiomyopathy. Eur. Heart J. 40, 1671–1677 (2019). · DOI · Paper page
  51. Hemani, G. et al. The MR-Base platform supports systematic causal inference across the human phenome. eLife 7, e34408 (2018). · DOI · Paper page
  52. Pickrell, J. K. Joint analysis of functional genomic data and genome-wide association studies of 18 human traits. Am. J. Hum. Genet. 94, 559–573 (2014). · DOI
  53. Ernst, J. & Kellis, M. ChromHMM: automating chromatin-state discovery and characterization. Nat. Methods 3, 215–216 (2012). · DOI

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Metadata

Authors
Harper, A. R., Goel, A., Grace, C., Thomson, K. L., Petersen, S. E., Xu, X., Waring, A., Ormondroyd, E., Kramer, C. M., Ho, C. Y., Neubauer, S., HCMR Investigators, Kolm, P., Kwong, R., Dolman, S. F., Desvigne-Nickens, P., Dimarco, J. P., Geller, N., Kim, D.-Y., Zhang, C., Weintraub, W., Abraham, T., Anderson, L., Appelbaum, E., Autore, C., Berry, C., Biagini, E., Bradlow, W., Bucciarelli-Ducci, C., Chiribiri, A., Choudhury, L., Crean, A., Dawson, D., Desai, M. Y., Elstein, E., Flett, A., Friedrich, M., Heitner, S., Helms, A., Jacoby, D. L., Kim, H., Kim, B., Larose, E., Mahmod, M., Mahrholdt, H., Maron, M., McCann, G., Michels, M., Mohiddin, S., Nagueh, S., Newby, D., Olivotto, I., Owens, A., Pierre-Mongeon, F., Prasad, S., Rimoldi, O., Salerno, M., Schulz-Menger, J., Sherrid, M., Swoboda, P., van Rossum, A., Weinsaft, J., White, J., Williamson, E., Tadros, R., Ware, J. S., Bezzina, C. R., Farrall, M., & Watkins, H.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2021-01-25
Volume
53
Issue
2
Pages
135-142
ISSN
  • 1061-4036
  • 1546-1718
DOI
10.1038/s41588-020-00764-0
PMC
PMC8240954
Cited by
353
References
14
Language
en
Licence
Funders
  • British Heart Foundation (RE/13/1/30181)
  • U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (U01HL117006-01A1)
  • Wellcome Trust (201543/B/16/Z, 090532/Z/09/Z, 203141/Z/16/Z, 090532/Z/09/Z, 203141/Z/16/Z)
  • RCUK | Medical Research Council (1964807)
  • European Commission (LSHM-CT- 2007-037273, HEALTH-F2-2013-601456)

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