ArticleEuropean journal of human genetics : EJHG2023
Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy.
Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.Human genomics · 2024Pooled it
- Article
- Hereditary Transthyretin Amyloid Cardiomyopathy with Val142Ile Mutation in Taiwan: A Case Report.Acta Cardiologica Sinica · 2024Article
- Cardiovascular Disease and Mortality in Black Women Carrying the Amyloidogenic V122I Transthyretin Gene Variant.JACC. Heart failure · 2023Article
- Molecular explanations for variability of clinical phenotypes.European journal of human genetics : EJHG · 2023Article
- Case Report: A rare homozygous patient affected byFrontiers in cardiovascular medicine · 2023Article
Corrections and comments
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Authors and funding
13 authors at 7 institutions in 2 countries.
Funding
Abstract
The p.Val142Ile variant in transthyretin (encoded by the TTR gene) is the most common genetic cause of transthyretin-related amyloidosis. This allele is particularly prevalent in communities ofAfrican descent compared with populations of different ancestries, where its frequency is two orders of magnitude lower. For this reason, p.Val142Ile has always been considered an "African" variant, with limited studies performed on individuals of European descent. However, recent reports of higher-than-expected prevalence in European-ancestry populations question the African specificity of this allele. Here we show that the high recurrence of p.Val142Ile in central Italy is due to a founder effect and not to recent admixture from African populations, highlighting how this may be the case in other communities. This suggests a probable underestimate of the global prevalence of p.Val142Ile, and further emphasizes the importance of routine inclusion of TTR in gene panels used for clinical genetic testing in hypertrophic cardiomyopathy (independently of the patient's geographical origin), that transthyretin-related amyloidosis can mimic.
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Registered trials
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