ArticleEuropean journal of human genetics : EJHG2017
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.Human genomics · 2024Pooled it
- Emerging, novel gene-modulating therapies for transthyretin amyloid cardiomyopathy.Heart failure reviews · 2025Review
- Hereditary Transthyretin Cardiac Amyloidosis With the p.V142I Variant: Mechanistic Insights and Diagnostic Challenges.Circulation. Heart failure · 2025Review
- Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderly.Frontiers in cardiovascular medicine · 2025Article
- Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability.Journal of neurology · 2024Review
- Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy Clusters Are Located in Ancient Mining Districts: A Possible Geochemical Origin of the Disease.Biomolecules · 2024Review
- Hereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathy.Frontiers in neurology · 2023Review
- Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.Neurology and therapy · 2022Article
- Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy.Biomedicines · 2022Review
- 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
- Current and Emerging Therapies for Hereditary Transthyretin Amyloidosis: Strides Towards a Brighter Future.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Epigenomic Profiles of African-AmericanCirculation. Genomic and precision medicine · 2021Article
- Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis.Clinical epigenetics · 2020Article
- 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
- Increased Risk of Multiple Outpatient Surgeries in African-American Carriers ofJournal of clinical medicine · 2019Article
- Hereditary cardiac amyloidosis associated with Pro24Ser transthyretin mutation: a case report.Journal of medical case reports · 2018Article
- Transthyretin familial amyloid polyneuropathy: an update.Journal of neurology · 2018Review
- Genetic Infiltrative Cardiomyopathies.Heart failure clinics · 2018Review
Corrections and comments
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Authors and funding
16 authors at 10 institutions in 3 countries.
Funding
Abstract
Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms. We evaluated the genotype-phenotype correlation considering the clinical information of 129 Italian patients with TTR amyloidosis. Then, we conducted a re-sequencing of TTR gene to investigate how non-coding variants affect TTR expression and, consequently, phenotypic presentation in carriers of amyloidogenic mutations. Polygenic scores for genetically determined TTR expression were constructed using data from our re-sequencing analysis and the GTEx (Genotype-Tissue Expression) project. We confirmed a strong phenotypic heterogeneity across coding mutations causing TTR amyloidosis. Considering the effects of non-coding variants on TTR expression, we identified three patient clusters with specific expression patterns associated with certain phenotypic presentations, including late onset, autonomic neurological involvement, and gastrointestinal symptoms. This study provides novel data regarding the role of non-coding variation and the gene expression profiles in patients affected by TTR amyloidosis, also putting forth an approach that could be used to investigate the mechanisms at the basis of the genotype-phenotype correlation of the disease.
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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.