ArticleMolecular genetics & genomic medicine2016
The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa.
Article in Molecular genetics & genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05374564 (Parametric Cardiac 18F-flutemetamol PET Imaging in ATTR Cardiomyopathy), which is not on this map. Cited by 26 papers, 2 of them syntheses 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.
Parametric Cardiac 18F-flutemetamol PET Imaging in ATTR Cardiomyopathy
Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- Prevalence and Outcomes of p.Val142IleCirculation. Genomic and precision medicine · 2021Pooled it
- Diagnosis of cardiac amyloidosis: a systematic review on the role of imaging and biomarkers.BMC cardiovascular disorders · 2018Pooled it
- Neuropathy in Val122Ile Hereditary Transthyretin (ATTR) Amyloidosis: A Multicenter Retrospective Cohort Study.Journal of the peripheral nervous system : JPNS · 2026Observational
- Cardiac amyloidosis: From diagnosis to therapeutics breakthroughs.World journal of experimental medicine · 2026Review
- Cardiovascular Mortality in Amyloidosis: Long-Term Trends, Disparities, and Projections in the United States.Risk management and healthcare policy · 2026Article
- PathogenicCurrent issues in molecular biology · 2025Article
- Article
- Prevalence and Phenotype of Transthyretin Val122Ile Variant in the Hispanic Community Health Study/Study of Latinos.JACC. Advances · 2025Article
- Bench to all Bedsides in Genomics and Precision Medicine.Journal of the American Heart Association · 2025Article
- Case Report: Avoiding misdiagnosis in amyloidosis-navigating transthyretin genopositivity and monoclonal gammopathy in a patient with advanced heart failure and spinal stenosis.Frontiers in cardiovascular medicine · 2024Article
- Accurate Classification of Non-ischemic Cardiomyopathy.Current cardiology reports · 2023Review
- Uneven burden of cardiac amyloidosis in people of African descent - global imbalance in resources and access.BMC global and public health · 2023Review
- Clinical Penetrance of the Transthyretin V122I Variant in Older Black Patients With Heart Failure: The SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study.Journal of the American Heart Association · 2023Article
- Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy.European journal of human genetics : EJHG · 2023Article
- Leveraging stories of cardiac amyloidosis patients of African ancestry or descent to support patient-derived data elements for efficient diagnosis and treatment.Frontiers in pharmacology · 2023Article
- Racial Differences in Val122Ile-Associated Transthyretin Cardiac Amyloidosis.Journal of cardiac failure · 2022Article
- Cerebral Ischemic Events: An Overlooked Complication of Transthyretin Cardiac Amyloidosis in Afro-Caribbean Patients.Frontiers in neurology · 2022Article
- Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry.Scientific reports · 2021Article
- Racial and Ethnic Disparities in Transthyretin Cardiac Amyloidosis.Current cardiovascular risk reports · 2021Article
- Epigenomic Profiles of African-AmericanCirculation. Genomic and precision medicine · 2021Article
Corrections and comments
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Authors and funding
11 authors at 11 institutions in 5 countries.
Funding
Abstract
backgroundTransthyretin (TTR) pV142I (rs76992529-A) is one of the 113 variants in the human TTR gene associated with systemic amyloidosis. It results from a G to A transition at a CG dinucleotide in the codon for amino acid 122 of the mature protein (TTR V122I). The allele frequency is 0.0173 in African Americans.
methodsPCR-based assays to genotype 2767 DNA samples obtained from participants in genetic studies from various African populations supplemented with sequencing data from 529 samples within the 1000 Genomes Project.
resultsThe rs76992529-A variant allele was most prevalent (allele frequency 0.0253) in the contiguous West African countries of Sierra Leone, Guinea, Ivory Coast, Burkina Faso, Ghana, and Nigeria. In other African countries, the mean allele frequency was 0.011.
conclusionsOur data are consistent with a small number of founder carriers of the amyloidogenic TTR V122I (p.Val142Ile) allele in southern West Africa, with no apparent advantage or disadvantage of an allele carrying newborn reaching adulthood. In U.S. African Americans, the allele represents a significant risk for congestive heart failure late in life. If clinical penetrance is similar in African countries with high allele frequencies, then cardiac amyloidosis could also represent a significant cause of heart disease in the elderly in those populations.
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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.