ArticleEuropean journal of human genetics : EJHG2019
Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Prevalence and Outcomes of p.Val142IleCirculation. Genomic and precision medicine · 2021Pooled it
- Automated machine learning of echocardiographic strain enables identification of early myocardial changes in pre-symptomatic TTR carriers.medRxiv : the preprint server for health sciences · 2026Article
- Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis.International journal of cardiology. Heart & vasculature · 2025Article
- Hereditary Transthyretin Cardiac Amyloidosis With the p.V142I Variant: Mechanistic Insights and Diagnostic Challenges.Circulation. Heart failure · 2025Review
- Genetic Screening for Hereditary Transthyretin Amyloidosis in the Population of Cammarata and San Giovanni Gemini Through Red Flags and Registry Archives.Brain sciences · 2025Article
- Evolving knowledge of red flag clinical features associated with TTR p.(Val142Ile) in a diverse electronic health-record-linked biobank.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.European journal of neurology · 2025Article
- Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderly.Frontiers in cardiovascular medicine · 2025Article
- Epidemiological Changes in Transthyretin Cardiac Amyloidosis: Evidence from In Vivo Data and Autoptic Series.Journal of clinical medicine · 2024Review
- Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic.European journal of neurology · 2024Article
- Clinical Manifestation of Nebulin-Associated Nemaline Myopathy.Neurology. Genetics · 2023Article
- Prevalence estimation of ATTRv in China based on genetic databases.Frontiers in genetics · 2023Article
- Hereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathy.Frontiers in neurology · 2023Review
- Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments.Journal of human genetics · 2022Article
- Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UK.Advances in therapy · 2022Article
- Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records.JACC. CardioOncology · 2021Article
- Retinol Binding Protein 4 as a Screening Biomarker for Hereditary TTR Amyloidosis in African American Adults With TTR V142I.Journal of cardiac failure · 2021Article
- Position Statement on Diagnosis and Treatment of Cardiac Amyloidosis - 2021.Arquivos brasileiros de cardiologia · 2021Article
- Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.Human genomics · 2021Article
- Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis.Journal of personalized medicine · 2021Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Transthyretin amyloidosis (ATTR amyloidosis) is a rare disease characterised by extracellular deposition of amyloid fibrils composed by transthyretin. ATTR amyloidosis can be sub-classified as wild-type ATTR (ATTR-wt) or as hereditary amyloidosis (ATTR-m); the prevalence of both types are likely underestimated. There are tools that can help us to study ATTR-m, as gnomAD database. Our primary aim was to estimate prevalence of variants, especially amyloidogenic variants, in the TTR gene using gnomAD database. We analysed TTR missense variants found in gnomAD. The variables studied were classified according to their clinical significance and according to the different populations. We found 71 missense variants in the TTR gene. Eleven variants were described as affects function variants (prevalence 1:230). The most frequently detected variant were c.424G>A (p.(Val142Ile)) (prevalence 1:332, MAF 0.00151) and c.148G>A (p.(Val50Met)) (prevalence 1:4924, MAF 0.000102), which represented 88% and 5%, respectively, of all affects function variants detected. Seventeen variants were classified as probably affects function, 29 as unknown variants, 4 as probably does not affect function and 10 as does not affect function variants. In terms of different populations, c.424G>A (p.(Val142Ile)) was especially prevalent in African population (MAF 0.01602; prevalence of 1:31) and c.148G>A (p.(Val50Met)) in European population (MAF 0.000179; prevalence of 1:2792). Prevalence of amyloidogenic variants in the general population was higher than prevalence heretofore described. This difference could be explained by incomplete penetrance of the disease, but other factors contributing to this fact, fundamentally the underdiagnosis of the disease.
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