ArticleHuman genomics2021
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.
Article in Human genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.Human genomics · 2024Pooled it
- Hereditary transthyretin amyloidosis mimicking ALS: First genetically proven case report from Saudi Arabia.eNeurologicalSci · 2026Article
- A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.Human mutation · 2026Review
- First report of the clinical characteristics and outcomes of cardiac amyloidosis in Saudi Arabia.ESC heart failure · 2024Article
- Cardiac amyloidosis: A survey of current awareness, diagnostic modalities, treatment practices, and clinical challenges among cardiologists in selected Middle Eastern countries.Clinical cardiology · 2023Article
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 2023Article
- Prevalence estimation of ATTRv in China based on genetic databases.Frontiers in genetics · 2023Article
- Transthyretin cardiac amyloidosis in Saudi Arabia and the Middle East: insights, projected prevalence and practical applications.Frontiers in cardiovascular medicine · 2023Article
- Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease with significant phenotypic heterogeneity. Its prevalence in Saudi Arabia has not previously been investigated. An existing exome variant database of Saudi individuals, sequenced to globally investigate rare diseases in the population, was mined for TTR variants and filtered for missense mutations resulting in single amino acid changes. A total of 13,906 Saudi exomes from unrelated individuals were analyzed blindly.
resultsThree TTR variants known to be associated with ATTR amyloidosis were identified. Additionally, three novel TTR mutations were identified. Structural analysis of the three novel variants suggests that at least two could be amyloidogenic. The most common variant associated with amyloidosis was p.Val142Ile (allele frequency 0.001). Further investigation of these variants and their translation to clinical practice may help to diagnose, monitor, and manage patients with ATTR amyloidosis.
conclusionMultiple TTR variants potentially associated with systemic ATTR amyloidosis were identified in the Saudi population. Early diagnosis and intervention, facilitated by familial genetic testing of patients with ATTR amyloidosis, may benefit in the management of this disease. Early diagnosis could be enhanced through inclusion of ATTR variants in existing population-based screening programs.
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