ArticleHuman genetics2015
Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt).
Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Features of atrial fibrillation in wild-type transthyretin cardiac amyloidosis: a systematic review and clinical experience.ESC heart failure · 2018Pooled it
- CRISPR-Cas3-based editing for targeted deletions in a mouse model of transthyretin amyloidosis.Nature biotechnology · 2026Article
- Genetically transitional disease: conceptual understanding and applicability to rheumatic disease.Nature reviews. Rheumatology · 2024Review
- Extending the reach of expert amyloidosis care: A feasibility study exploring the staged implementation of a UK amyloidosis network.Clinical medicine (London, England) · 2024Article
- Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca.Orphanet journal of rare diseases · 2023Article
- Recent insights into the functions and mechanisms of antisense RNA: emerging applications in cancer therapy and precision medicine.Frontiers in chemistry · 2023Review
- The integration of genetically-regulated transcriptomics and electronic health records highlights a pattern of medical outcomes related to increased hepaticAmyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis · 2022Article
- The Challenges and Strategies of Antisense Oligonucleotide Drug Delivery.Biomedicines · 2021Review
- 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.Human genetics · 2019Article
- Diagnostic and Treatment Approaches Involving Transthyretin in Amyloidogenic Diseases.International journal of molecular sciences · 2019Review
- Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas.Neurological research and practice · 2019Article
- A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal.Molecular neurobiology · 2018Article
- Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.BMC genomics · 2017Article
- Novel conformation-specific monoclonal antibodies against amyloidogenic forms of transthyretin.Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis · 2016Article
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Authors and funding
8 authors at 2 institutions in 1 country.
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Abstract
Wild-type transthyretin amyloidosis (ATTRwt), typically diagnosed as congestive heart failure in elderly Caucasian men, features myocardial amyloid deposits of wild-type plasma protein transthyretin (TTR). ATTRwt is sporadic, its pathogenesis is poorly understood, and currently there are no biomarkers for diagnosis or prognosis. Genetic studies of variant-associated transthyretin amyloidosis have suggested that non-coding TTR gene variants modulate disease. We hypothesized that cis-acting regulatory elements in the TTR gene non-coding regions may modify expression, affecting ATTRwt onset and progression. We studied an ATTRwt cohort consisting of 108 Caucasian males ranging in age from 59 to 87 years with cardiomyopathy due to wild-type TTR deposition; results were compared to 118 anonymous controls matched by age, sex, and race. Four predicted non-coding regulatory regions and all exons in the TTR gene were sequenced using the Sanger method. Eleven common variants were identified; three variants were significantly associated with ATTRwt (p < 0.05), though only one, rs72922940, remained near significance (p corrected = 0.083) after multiple testing correction. Exon analyses demonstrated the occurrence of the p.G26S (G6S) polymorphism in 7 % of ATTRwt subjects and 12 % of controls; this variant was predicted to be a protective factor (p = 0.051). Four variants were significantly associated with age at onset and survival. In this first genetic study of a large, well-characterized cohort of ATTRwt, non-coding and coding variants associated with disease, age at onset, and survival were identified. Further investigation is warranted to determine the prevalence of these variants in ATTRwt, their regulatory function, and potential role in assessing disease risk.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.