Liz MA, Coelho T, Bellotti V, Fernandez-Arias MI, Mallaina P, Obici L. A narrative review of the role of transthyretin in health and disease. Neurol Ther. 2020;9(2):395–402.

Article  PubMed  PubMed Central  Google Scholar 

Vieira M, Saraiva MJ. Transthyretin: a multifaceted protein. Biomol Concepts. 2014;5(1):45–54.

Article  CAS  PubMed  Google Scholar 

Si JB, Kim B, Kim JH. Transthyretin misfolding, a fatal structural pathogenesis mechanism. Int J Mol Sci. 2021;22(9).

Manganelli F, Fabrizi GM, Luigetti M, Mandich P, Mazzeo A, Pareyson D. Hereditary transthyretin amyloidosis overview. Neurol Sci. 2022;43(Suppl 2):595–604.

Article  PubMed  Google Scholar 

Ando Y, Coelho T, Berk JL, Cruz MW, Ericzon BG, Ikeda S, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31.

Article  PubMed  PubMed Central  Google Scholar 

Obi CA, Mostertz WC, Griffin JM, Judge DP. ATTR epidemiology, genetics, and prognostic factors. Methodist Debakey Cardiovasc J. 2022;18(2):17–26.

Article  PubMed  PubMed Central  Google Scholar 

Adams D, Theaudin M, Cauquil C, Algalarrondo V, Slama M. FAP neuropathy and emerging treatments. Curr Neurol Neurosci Rep. 2014;14(3):435.

Article  PubMed  Google Scholar 

Buxbaum JN, Ruberg FL. Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African americans. Genet Med. 2017;19(7):733–42.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Plante-Bordeneuve V, Kerschen P. Transthyretin familial amyloid polyneuropathy. Handb Clin Neurol. 2013;115:643–58.

Article  CAS  PubMed  Google Scholar 

Sekijima Y, Ueda M, Koike H, Misawa S, Ishii T, Ando Y. Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm. Orphanet J Rare Dis. 2018;13(1):6.

Article  PubMed  PubMed Central  Google Scholar 

Skrahina V, Grittner U, Beetz C, Skripuletz T, Juenemann M, Kramer HH, et al. Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology. Ann Med. 2021;53(1):1787–96.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Parman Y, Adams D, Obici L, Galan L, Guergueltcheva V, Suhr OB, et al. Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP. Curr Opin Neurol. 2016;29(Suppl 1Suppl 1):S3–13.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pathak GA, De Lillo A, Wendt FR, De Angelis F, Koller D, Cabrera Mendoza B, et al. The integration of genetically-regulated transcriptomics and electronic health records highlights a pattern of medical outcomes related to increased hepatic transthyretin expression. Amyloid. 2022;29(2):110–9.

Article  CAS  PubMed  Google Scholar 

De Lillo A, Pathak GA, De Angelis F, Di Girolamo M, Luigetti M, Sabatelli M, et al. Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis. Clin Epigenetics. 2020;12(1):176.

Article  PubMed  PubMed Central  Google Scholar 

De Lillo A, De Angelis F, Di Girolamo M, Luigetti M, Frusconi S, Manfellotto D, et al. Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses. Hum Genet. 2019;138(11–12):1331–40.

Article  PubMed  Google Scholar 

Iorio A, De Lillo A, De Angelis F, Di Girolamo M, Luigetti M, Sabatelli M, et al. Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. Eur J Hum Genet. 2017;25(9):1055–60.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pathak GA, Wendt FR, De Lillo A, Nunez YZ, Goswami A, De Angelis F, et al. Epigenomic profiles of African-American transthyretin Val122Ile carriers reveals putatively dysregulated amyloid mechanisms. Circ Genom Precis Med. 2021;14(1):e003011.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Polimanti R, Nunez YZ, Gelernter J. Increased risk of multiple outpatient surgeries in African-American carriers of transthyretin Val122Ile mutation is modulated by non-coding variants. J Clin Med. 2019;8(2).

Iorio A, De Angelis F, Di Girolamo M, Luigetti M, Pradotto LG, Mazzeo A, et al. Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis. BMC Genomics. 2017;18(1):254.

Article  PubMed  PubMed Central  Google Scholar 

Bycroft C, Freeman C, Petkova D, Band G, Elliott LT, Sharp K, et al. The UK Biobank resource with deep phenotyping and genomic data. Nature. 2018;562(7726):203–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bastarache L. Using phecodes for research with the electronic health record: from PheWAS to PheRS. Annu Rev Biomed Data Sci. 2021;4:1–19.

Article  PubMed  PubMed Central  Google Scholar 

Genomes Project C, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, et al. A global reference for human genetic variation. Nature. 2015;526(7571):68–74.

Article  Google Scholar 

Li JZ, Absher DM, Tang H, Southwick AM, Casto AM, Ramachandran S, et al. Worldwide human relationships inferred from genome-wide patterns of variation. Science. 2008;319(5866):1100–4.

Article  CAS  PubMed  Google Scholar 

Rowczenio DM, Noor I, Gillmore JD, Lachmann HJ, Whelan C, Hawkins PN, et al. Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Hum Mutat. 2014;35(9):E2403–12.

Article  CAS  PubMed  Google Scholar 

Di Stefano V, Lupica A, Alonge P, Pignolo A, Augello SM, Gentile F, et al. Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: two years of experience in a neurological clinic. Eur J Neurol. 2024;31(1):e16065.

Article  PubMed  Google Scholar 

Landrum MJ, Kattman BL. ClinVar at five years: delivering on the promise. Hum Mutat. 2018;39(11):1623–30.

Article  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and genomics and the association for molecular pathology. Genet Med. 2015;17(5):405–24.

Article  PubMed  PubMed Central  Google Scholar 

Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–43.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ho D, Imai K, King G, Stuart EA. MatchIt: nonparametric preprocessing for parametric causal inference. J Stat Softw. 2011;42(8):1–28.

Article  Google Scholar 

Li B, Leal SM. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet. 2008;83(3):311–21.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics. 2010;26(17):2190–1.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nam Y, Jung SH, Yun JS, Sriram V, Singhal P, Byrska-Bishop M et al. Discovering comorbid diseases using an inter-disease interactivity network based on biobank-scale PheWAS data. Bioinformatics. 2023;39(1).

Mazzarotto F, Argiro A, Zampieri M, Magri C, Giotti I, Boschi B, et al. Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy. Eur J Hum Genet. 2023;31(5):541–7.

Article  CAS  PubMed  Google Scholar 

Batra J, Rosenblum H, Cappelli F, Zampieri M, Olivotto I, Griffin JM, et al. Racial differences in Val122Ile-associated transthyretin cardiac amyloidosis. J Card Fail. 2022;28(6):950–9.

Article  PubMed  Google Scholar 

Damrauer SM, Chaudhary K, Cho JH, Liang LW, Argulian E, Chan L, 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):2191–202.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Abouelhoda M, Mohty D, Alayary I, Meyer BF, Arold ST, Fadel BM, et al. Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining. Hum Genomics. 2021;15(1):52.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mohan B, Singh S, Tandon R, Batta A, Singal G, Singh G, et al. Clinical profile of patients with cardiac amyloidosis in India. Indian Heart J. 2023;75(1):73–6.

Article  PubMed  Google Scholar 

Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS. Transthyretin amyloid cardiomyopathy: JACC state-of-the-art review. J Am Coll Cardiol. 2019;73(22):2872–91.

Article