ArticleScientific reports2021
Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.Human genomics · 2024Pooled it
- Effect of Eplontersen in Patients With Hereditary Transthyretin Amyloidosis With Polyneuropathy Across Genetic Variants: An Exploratory Analysis From the NEURO-TTRansform Trial.European journal of neurology · 2026Trial
- Impact of patisiran on polyneuropathy of hereditary transthyretin amyloidosis in patients with a V122I or T60A variant: a phase IV multicenter study.Annals of medicine · 2025Trial
- Neuropathy in Val122Ile Hereditary Transthyretin (ATTR) Amyloidosis: A Multicenter Retrospective Cohort Study.Journal of the peripheral nervous system : JPNS · 2026Observational
- Polyneuropathy Assessment and Treatment Patterns in Patients with Hereditary Transthyretin Amyloidosis.Cardiology and therapy · 2026Article
- Transthyretin Amyloidosis-From Peculiar Neuropathy to a Treatable Chronic Multisystemic Disease.Genes · 2026Review
- 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
- Systemic Manifestations and Mortality Risk in Transthyretin V142I Variant Carriers: A Million Veteran Program Analysis.JACC. CardioOncology · 2026Article
- Calling All Carriers: Closing the Gap in V142I Recognition.JACC. CardioOncology · 2026Article
- Developing a phenotype risk score formedRxiv : the preprint server for health sciences · 2026Article
- Cardiac amyloidosis risk across ethnoracial and clinical subgroups: a five-year national study.American journal of cardiovascular disease · 2026Article
- Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.Journal of the peripheral nervous system : JPNS · 2025Article
- Bench to all Bedsides in Genomics and Precision Medicine.Journal of the American Heart Association · 2025Article
- Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis.International journal of cardiology. Heart & vasculature · 2025Article
- Diagnosis and Management of Mixed Phenotype Hereditary Transthyretin Amyloidosis: A Case-Based, Canadian Perspective.CJC open · 2025Review
- 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
- Non-Cardiac Amyloidosis Findings Are Not Increased in African American Carriers ofJournal of personalized medicine · 2024Article
- Arrhythmias and Device Therapies in Cardiac Amyloidosis.Journal of clinical medicine · 2024Review
- Article
- Phenotypes Associated With the Val122Ile, Leu58His, and Late-Onset Val30Met Variants in Patients With Hereditary Transthyretin Amyloidosis.Neurology · 2023Article
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Authors and funding
22 authors at 10 institutions in 2 countries.
Funding
Abstract
Hereditary transthyretin-mediated (hATTR) amyloidosis is an underdiagnosed, progressively debilitating disease caused by mutations in the transthyretin (TTR) gene. V122I, a common pathogenic TTR mutation, is found in 3-4% of individuals of African ancestry in the United States and has been associated with cardiomyopathy and heart failure. To better understand the phenotypic consequences of carrying V122I, we conducted a phenome-wide association study scanning 427 ICD diagnosis codes in UK Biobank participants of African ancestry (n = 6062). Significant associations were tested for replication in the Penn Medicine Biobank (n = 5737) and the Million Veteran Program (n = 82,382). V122I was significantly associated with polyneuropathy in the UK Biobank (odds ratio [OR] = 6.4, 95% confidence interval [CI] 2.6-15.6, p = 4.2 × 10
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