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Amyloid
The Journal of Protein Folding Disorders
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Research Article

Circulating transthyretin and retinol binding protein 4 levels among middle-age V122I TTR carriers in the general population

, , , , , , , , , , , & show all
Received 01 Nov 2023, Accepted 19 Feb 2024, Published online: 06 Mar 2024

References

  • Jacobson DR, Alexander AA, Tagoe C, et al. Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans. Amyloid. 2015;22(3):171–174. doi: 10.3109/13506129.2015.1051219.
  • Buxbaum J, Alexander A, Koziol J, et al. Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) studies. Am Heart J. 2010;159(5):864–870. doi: 10.1016/j.ahj.2010.02.006.
  • Kozlitina J, Garg S, Drazner MH, et al. Clinical implications of the amyloidogenic V122I transthyretin variant in the general population. J Card Fail. 2022;28(3):403–414. doi: 10.1016/j.cardfail.2021.09.015.
  • Damrauer SM, Chaudhary K, Cho JH, et al. Association of the V122I hereditary transthyretin amyloidosis genetic variant with heart failure among individuals of African or Hispanic/Latino ancestry. JAMA. 2019;322(22):2191–2202. doi: 10.1001/jama.2019.17935.
  • Maurer MS, Hanna M, Grogan M, et al. Genotype and phenotype of transthyretin cardiac amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol. 2016;68(2):161–172. doi: 10.1016/j.jacc.2016.03.596.
  • Parcha V, Malla G, Irvin MR, et al. Association of transthyretin Val122Ile variant with incident heart failure among black individuals. JAMA. 2022;327(14):1368–1378. doi: 10.1001/jama.2022.2896.
  • Lane T, Fontana M, Martinez-Naharro A, et al. Natural history, quality of life, and outcome in cardiac transthyretin amyloidosis. Circulation. 2019;140(1):16–26. doi: 10.1161/CIRCULATIONAHA.118.038169.
  • Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med. 2018;379(11):1007–1016. doi: 10.1056/NEJMoa1805689.
  • Sinha A, Zheng Y, Nannini D, et al. Association of the V122I transthyretin amyloidosis genetic variant with cardiac structure and function in middle-aged black adults: Coronary Artery Risk Development in Young Adults (CARDIA) study. JAMA Cardiol. 2020;6(6):1–5. doi: 10.1001/jamacardio.2020.6623.
  • Quarta CC, Buxbaum JN, Shah AM, et al. The amyloidogenic V122I transthyretin variant in elderly Black Americans. N Engl J Med. 2015;372(1):21–29. doi: 10.1056/NEJMoa1404852.
  • Coniglio AC, Segar MW, Loungani RS, et al. Transthyretin V142I genetic variant and cardiac remodeling, injury, and heart failure risk in black adults. JACC Heart Fail. 2022;10(2):129–138. doi: 10.1016/j.jchf.2021.09.006.
  • Hendren NS, Roth LR, Grodin JL. Disease-specific biomarkers in transthyretin cardiac amyloidosis. Curr Heart Fail Rep. 2020;17(3):77–83. doi: 10.1007/s11897-020-00457-z.
  • Saef J, Martyn T, Ives L, et al. Predictive modeling to assess pretest probability of transthyretin gene variants based on demographic information. Circ Heart Fail. 2023;16(4):e009908.
  • Zimmerman RK, Tabbarah M, Nowalk MP, et al. Racial differences in beliefs about genetic screening among patients at inner-city neighborhood health centers. J Natl Med Assoc. 2006;98(3):370–377.
  • Suther S, Kiros GE. Barriers to the use of genetic testing: a study of racial and ethnic disparities. Genet Med. 2009;11(9):655–662. doi: 10.1097/GIM.0b013e3181ab22aa.
  • Hammarström P, Schneider F, Kelly JW. Trans-suppression of misfolding in an amyloid disease. Science. 2001;293(5539):2459–2462. doi: 10.1126/science.1062245.
  • Victor RG, Haley RW, Willett DL, et al. The Dallas Heart Study: a population-based probability sample for the multidisciplinary study of ethnic differences in cardiovascular health. Am J Cardiol. 2004;93(12):1473–1480. doi: 10.1016/j.amjcard.2004.02.058.
  • de Lemos JA, Drazner MH, Omland T, et al. Association of troponin T detected with a highly sensitive assay and cardiac structure and mortality risk in the general population. JAMA. 2010;304(22):2503–2512. doi: 10.1001/jama.2010.1768.
  • Kozlitina J, Smagris E, Stender S, et al. Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease. Nat Genet. 2014;46(4):352–356. doi: 10.1038/ng.2901.
  • Drazner MH, Dries DL, Peshock RM, et al. Left ventricular hypertrophy is more prevalent in blacks than whites in the general population: the Dallas Heart Study. Hypertension. 2005;46(1):124–129. doi: 10.1161/01.HYP.0000169972.96201.8e.
  • Kwanbunjan K, Panprathip P, Phosat C, et al. Association of retinol binding protein 4 and transthyretin with triglyceride levels and insulin resistance in rural Thais with high type 2 diabetes risk. BMC Endocr Disord. 2018;18(1):26. doi: 10.1186/s12902-018-0254-2.
  • Griffin JM, Rosenthal JL, Grodin JL, et al. ATTR amyloidosis: current and emerging management strategies: JACC: Cardio Oncology state-of-the-art review. JACC CardioOncol. 2021;3(4):488–505. doi: 10.1016/j.jaccao.2021.06.006.
  • Greve AM, Christoffersen M, Frikke-Schmidt R, et al. Association of low plasma transthyretin concentration with risk of heart failure in the general population. JAMA Cardiol. 2021;6(3):258–266. doi: 10.1001/jamacardio.2020.5969.
  • Buxbaum J, Koziol J, Connors LH. Serum transthyretin levels in senile systemic amyloidosis: effects of age, gender and ethnicity. Amyloid. 2008;15(4):255–261. doi: 10.1080/13506120802525285.
  • Kelly JW. Mechanisms of amyloidogenesis. Nat Struct Biol. 2000;7(10):824–826. doi: 10.1038/82815.
  • Chacko L, Martone R, Bandera F, et al. Echocardiographic phenotype and prognosis in transthyretin cardiac amyloidosis. Eur Heart J. 2020;41(14):1439–1447. doi: 10.1093/eurheartj/ehz905.
  • Buxbaum J, Anan I, Suhr O. Serum transthyretin levels in Swedish TTR V30M carriers. Amyloid. 2010;17(2):83–85. doi: 10.3109/13506129.2010.483118.
  • Noy N, Li L, Abola MV, et al. Is retinol binding protein 4 a link between adiposity and cancer? Horm Mol Biol Clin Investig. 2015;23(2):39–46. doi: 10.1515/hmbci-2015-0019.
  • Hyung SJ, Deroo S, Robinson CV. Retinol and retinol-binding protein stabilize transthyretin via formation of retinol transport complex. ACS Chem Biol. 2010;5(12):1137–1146. doi: 10.1021/cb100144v.
  • Kontorovich AR, Abul-Husn NS. Retinol binding protein 4 as a screening biomarker for hereditary TTR amyloidosis in African American adults with TTR V142I. J Card Fail. 2021;27(9):1020–1022. doi: 10.1016/j.cardfail.2021.05.009.
  • Arvanitis M, Simon S, Chan G, et al. Retinol binding protein 4 (RBP4) concentration identifies V122I transthyretin cardiac amyloidosis. Amyloid. 2017;24(Suppl. 1):120–121. doi: 10.1080/13506129.2017.1295371.
  • Arvanitis M, Koch CM, Chan GG, et al. Identification of transthyretin cardiac amyloidosis using serum retinol-binding protein 4 and a clinical prediction model. JAMA Cardiol. 2017;2(3):305–313. doi: 10.1001/jamacardio.2016.5864.
  • Suhr OB, Coelho T, Buades J, et al. Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study. Orphanet J Rare Dis. 2015;10(1):109. doi: 10.1186/s13023-015-0326-6.

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