ArticleScientific reports2025
Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese.
Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Translating genomic data into healthcare practice with the Singapore National Precision Medicine program.Nature genetics · 2026Review
- Building a Precision Health Ecosystem: Singapore's Approach to Innovation through the Clinical Implementation Pilots.NPJ genomic medicine · 2026Review
- Case Report: A Canonical Splice-Site COL4A5 Variant in Alport Syndrome in a Kazakhstani Family.Current issues in molecular biology · 2026Article
- Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome.Frontiers in medicine · 2026Article
- Identification and pathogenicity analysis of a novel intronicFrontiers in medicine · 2026Article
- High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia.Biomedicines · 2025Article
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Authors and funding
13 authors.
Funding
Abstract
Alport syndrome is a common monogenic kidney disease resulting from pathogenic variants in COL4A3, COL4A4 or COL4A5 genes. The estimated global population prevalence is one in 106 individuals for autosomal dominant (AD) and one in 2,320 for sex-linked (XL) conditions. Here, we aimed to estimate the population prevalence of individuals carrying pathogenic variants that cause Alport syndrome in Singapore, and to stratify the prevalence by ancestry. We used population-scale genomic data of 9,051 unrelated subjects, comprising 5,443 (60.8%) Chinese, 1,922 (21.4%) Indian and 1,686 (17.8%) Malay individuals. The prevalence of individuals with pathogenic variants that cause AD and XL Alport syndrome are 1 in 165 and 1 in 2,262 respectively. Additionally, 0.8% of Chinese and 0.3% of Malay populations carry pathogenic Alport syndrome variants, with Chinese individuals being 2.7 times more affected than Malays (95% CI:1.147-6.437, P = 0.027). Interestingly, each pathogenic variant was associated with people of a single ancestry. The two most prevalent pathogenic variants, COL4A3: c.3856G > A (p.Gly1286Arg) (n = 8) and COL4A3: c.4793T > G (p.Leu1598Arg) (n = 4), were exclusively found in the Chinese population. In conclusion, AD Alport syndrome may be prevalent in Singapore, with higher frequencies among the Chinese. Furthermore, founder effects may exist within the ancestries.
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