SynthesisCirculation. Genomic and precision medicine2021
Prevalence and Outcomes of p.Val142Ile
Synthesis in Circulation. Genomic and precision medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
What it found
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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
52 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.Human genomics · 2024Pooled it
- Val142Ile ATTR Cardiomyopathy: From Disease Progression to Clinical Stabilization With Vutrisiran.JACC. Case reports · 2026Article
- Social Determinants of Health and Outcomes in Transthyretin Amyloid Cardiomyopathy.The American journal of cardiology · 2026Article
- Transthyretin V122I variant and protein affect cardiac severity and mortality in sickle cell disease.Blood advances · 2026Observational
- Differential Transthyretin Stabilization in Patients With Wild Type and Variant Transthyretin Amyloidosis.JACC. CardioOncology · 2026Article
- Hereditary Transthyretin Amyloidosis in Austria: Clinical, Genetic, and Demographic Insights from a Nationwide Cohort.Journal of clinical medicine · 2026Article
- Hereditary Transthyretin Cardiac Amyloidosis Associated with Two Pathogenic Variants in the TTR Gene.Arquivos brasileiros de cardiologia · 2026Article
- Detecting Polyneuropathy in Patients with Hereditary Transthyretin Amyloid Cardiomyopathy.CJC open · 2026Article
- Temporal and Geographical Disparities in Amyloid and Heart Failure-Related Mortality: An Epidemiological Study 1999-2020.Current cardiology reviews · 2026Article
- The phenotypic landscape of p.Ala117Ser transthyretin amyloidosis: distinct clinical profiles and outcomes versus wild-type ATTR.BMC cardiovascular disorders · 2025Observational
- Nodular amyloid deposits with collagen fibre rupture in tenosynovial carpal tissues are associated with transthyretin cardiomyopathy: a single-centre prospective diagnostic study.BMC musculoskeletal disorders · 2025Article
- Article
- Prevalence and Phenotype of Transthyretin Val122Ile Variant in the Hispanic Community Health Study/Study of Latinos.JACC. Advances · 2025Article
- Late-Life Echocardiographic Effects of the Amyloidogenic p.V142I Transthyretin Variant.Circulation. Heart failure · 2025Article
- 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
- Incidence and associated factors with atrial fibrillation in patients with transthyretin amyloidosis cardiomyopathy: Insights from the multicenter REACT-SP registry.International journal of cardiology. Heart & vasculature · 2025Article
- Race, Genetics, and Social Determinants of Health in Transthyretin Cardiac Amyloidosis: A Literature Review and Call to Action.Current cardiology reports · 2025Review
- Atrial cardiomyopathy in cardiac amyloidosis: clinical imaging and manifestations.NPJ cardiovascular health · 2025Article
- Creation of an Interactive Dashboard to Facilitate Early Detection of Cardiac Amyloidosis in African American Veterans.Applied clinical informatics · 2025Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
backgroundThe p.Val142Ile variant, predominantly found among people of African descent, is the most common cause of variant transthyretin amyloidosis and carriers predominantly develop a cardiomyopathy (variant transthyretin amyloidosis cardiomyopathy) phenotype. Yet, there are conflicting data on the prevalence and outcomes of p.Val142Ile variant carriers.
methodsWe performed a systematic review of the prevalence and outcomes of p.Val142Ile variant transthyretin amyloidosis cardiomyopathy among subjects of African descent. We found 62 relevant articles after searching the MEDLINE databases from 1980 to 2020 that reported data for ≈150 000 subjects.
resultsThe reported worldwide prevalence of the p.Val142Ile variant is 0.3% to 1.6% in the general population. Among people of African descent, the reported prevalence from all studies ranges from 1.1% to 9.8%, but for studies with >1000 subjects, it is 3% to 3.5%. The prevalence of the p.Val142Ile variant in a region is dependent on the reported percentage of subjects who are of African descent in that region. p.Val142Ile variant transthyretin amyloidosis cardiomyopathy typically presents in the seventh to eighth decade of life and the majority of cases reported were male, with 25% to 38% diagnosed with atrial fibrillation. It was associated with a longitudinally worse quality of life and a lower adjusted survival compared with other types of transthyretin amyloidosis cardiomyopathy.
conclusionsThe p.Val142Ile variant is the most common variant of the transthyretin gene with most carriers being of African descent. The true penetrance is unknown but the p.Val142Ile variant is associated with increased rates of incident heart failure and portends a lower overall survival. Increased awareness could lead to earlier diagnosis and improved heart failure outcomes among those of African descent, which is of increasing importance given the advent of novel therapeutics for this 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.