The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
The Amyloidogenic V122I Transthyretin Variant in Elderly Black Americans
Open accessAbstract
BACKGROUND: Approximately 4% of black Americans carry a valine-to-isoleucine substitution (V122I) in the transthyretin protein, which has been associated with late-onset restrictive amyloid cardiomyopathy and increased risks of death and heart failure. METHODS: We determined genotype status for the transthyretin gene (TTR) in 3856 black participants in the Atherosclerosis Risk in Communities study and assessed clinical profiles, mortality, and the risk of incident heart failure in V122I TTR variant carriers (124 participants [3%]) versus noncarriers (3732 participants). Cardiac structure and function and features suggestive of cardiac amyloidosis were assessed in participants who underwent echocardiography during visit 5 (2011 to 2013), when they were older than 65 years of age. RESULTS: After 21.5 years of follow-up, we did not detect a significant difference in mortality between carriers (41 deaths, 33%) and noncarriers (1382 deaths, 37%; age- and sex-stratified hazard ratio among carriers, 0.99; 95% confidence interval [CI], 0.73 to 1.36; P=0.97). The TTR variant was associated with an increased risk of incident heart failure (age- and sex-stratified hazard ratio, 1.47; 95% CI, 1.03 to 2.10; P=0.04). On echocardiography at visit 5, carriers (46 participants) had worse systolic and diastolic function, as well as a higher level of N-terminal pro-brain natriuretic peptide, than noncarriers (1194 participants), although carriers had a low prevalence (7%) of overt manifestations of amyloid cardiomyopathy. CONCLUSIONS: We did not detect a significant difference in mortality between V122I TTR allele carriers and noncarriers, a finding that contrasts with prior observations; however, the risk of heart failure was increased among carriers. The prevalence of overt cardiac abnormalities among V122I TTR carriers was low. (Funded by the National Heart, Lung, and Blood Institute and others.).
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Lang, R. M., Bierig, M., Devereux, R. B., Flachskampf, F. A., Foster, E., Pellikka, P. A., Picard, M. H., Roman, M. J., Seward, J., Shanewise, J. S., et al. (2005) · Journal of the American Society of Echocardiography · doi:10.1016/j.echo.2005.10.005 · Cited by 11,318
Self-citation(1989) · PubMed · Cited by 3,139
THE ATHEROSCLEROSIS RISK IN COMMUNIT (ARIC) STUDY: DESIGN AND OBJECTIVES
THE ARIC INVESTIGATORS (1989) · American Journal of Epidemiology · doi:10.1093/oxfordjournals.aje.a115184 · Cited by 2,924
Gertz, M. A., Comenzo, R., Falk, R. H., Fermand, J. P., Hazenberg, B. P., Hawkins, P. N., Merlini, G., Moreau, P., Ronco, P., Sanchorawala, V., et al. (2005) · American Journal of Hematology · doi:10.1002/ajh.20381 · Cited by 1,428
Self-citationNormal Ranges of Left Ventricular Strain: A Meta-Analysis
Yingchoncharoen, T., Agarwal, S., Popović, Z. B., & Marwick, T. H. (2013) · Journal of the American Society of Echocardiography · doi:10.1016/j.echo.2012.10.008 · Cited by 885
Heart Failure Incidence and Survival (from the Atherosclerosis Risk in Communities Study)
Loehr, L. R., Rosamond, W. D., Chang, P. P., Folsom, A. R., & Chambless, L. E. (2008) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2007.11.061 · Cited by 713
Variant-Sequence Transthyretin (Isoleucine 122) in Late-Onset Cardiac Amyloidosis in Black Americans
Jacobson, D. R., Pastore, R. D., Yaghoubian, R., Kane, I., Gallo, G., Buck, F. S., & Buxbaum, J. N. (1997) · New England Journal of Medicine · doi:10.1056/nejm199702133360703 · Cited by 554
Self-citationKottgen, A., Russell, S. D., Loehr, L. R., Crainiceanu, C. M., Rosamond, W. D., Chang, P. P., Chambless, L. E., & Coresh, J. (2007) · Journal of the American Society of Nephrology · doi:10.1681/asn.2006101159 · Cited by 461
Transthyretin-Related Familial Amyloidotic Polyneuropathy
Ando, Y., Nakamura, M., & Araki, S. (2005) · Archives of Neurology · doi:10.1001/archneur.62.7.1057 · Cited by 416
Rosamond, W. D., Chang, P. P., Baggett, C., Johnson, A., Bertoni, A. G., Shahar, E., Deswal, A., Heiss, G., & Chambless, L. E. (2012) · Circulation: Heart Failure · doi:10.1161/circheartfailure.111.963199 · Cited by 349
Cited by
Transthyretin Amyloid Cardiomyopathy
Ruberg, F. L., Grogan, M., Hanna, M., Kelly, J. W., & Maurer, M. S. (2019) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2019.04.003 · Cited by 1,112
Kittleson, M. M., Ruberg, F. L., Ambardekar, A. V., Brannagan, T. H., Cheng, R. K., Clarke, J. O., Dember, L. M., Frantz, J. G., Hershberger, R. E., Maurer, M. S., et al. (2023) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2022.11.022 · Cited by 640
Genotype and Phenotype of Transthyretin Cardiac Amyloidosis
Maurer, M. S., Hanna, M., Grogan, M., Dispenzieri, A., Witteles, R., Drachman, B., Judge, D. P., Lenihan, D. J., Gottlieb, S. S., Shah, S. J., et al. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.03.596 · Cited by 538
Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis
Gertz, M. A., Benson, M. D., Dyck, P. J., Grogan, M., Coelho, T., Cruz, M., Berk, J. L., Plante-Bordeneuve, V., Schmidt, H. H. J., & Merlini, G. (2015) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2015.09.075 · Cited by 475
Rozenbaum, M. H., Large, S., Bhambri, R., Stewart, M., Young, R., Doornewaard, A. V., Dasgupta, N., Masri, A., & Nativi-Nicolau, J. (2021) · Journal of Comparative Effectiveness Research · doi:10.2217/cer-2021-0071 · Cited by 19
Metadata
- Authors
- Quarta, C. C., Buxbaum, J. N., Shah, A. M., Falk, R. H., Claggett, B., Kitzman, D. W., Mosley, T. H., Butler, K. R., Boerwinkle, E., & Solomon, S. D.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2015-01-01
- Volume
- 372
- Issue
- 1
- Pages
- 21-29
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2162772358
- Cited by
- 263
- References
- 22
- FWCI
- 6.21
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Quarta, C. C., Buxbaum, J. N., Shah, A. M., Falk, R. H., Claggett, B., Kitzman, D. W., Mosley, T. H., Butler, K. R., Boerwinkle, E., & Solomon, S. D. (2015). The Amyloidogenic V122I Transthyretin Variant in Elderly Black Americans. New England Journal of Medicine. https://doi.org/10.1056/nejmoa1404852
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