Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population
Abstract Epithelial-stromal TGFBI dystrophies are a group of inherited corneal disorders associated with variants in the TGFBI. This study investigated the allele frequency of major TGFBI variants and estimated the prevalence of epithelial-stromal TGFBI dystrophies in a large Korean population. Gene...
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Nature Portfolio
2025-07-01
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| Online Access: | https://doi.org/10.1038/s41598-025-08189-7 |
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| author | Eun Hye Cho Myoungkeun Lee Chang-Seok Ki Chang Ahn Seol Mi-Ae Jang |
| author_facet | Eun Hye Cho Myoungkeun Lee Chang-Seok Ki Chang Ahn Seol Mi-Ae Jang |
| author_sort | Eun Hye Cho |
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| description | Abstract Epithelial-stromal TGFBI dystrophies are a group of inherited corneal disorders associated with variants in the TGFBI. This study investigated the allele frequency of major TGFBI variants and estimated the prevalence of epithelial-stromal TGFBI dystrophies in a large Korean population. Genetic analysis was performed on 129,933 individuals who underwent health checkups between July 2021 and August 2024. The presence of six major variants, R124L, R555Q, R124C, P501T, R555W, and R124H, was analyzed using next-generation sequencing. Three variants were detected in this study: R124H, P501T, and R555W, with allele frequencies of 0.10%, 0.58%, and 0.001%, respectively. The prevalence estimates for granular corneal dystrophy type 2, lattice corneal dystrophy variant, and granular corneal dystrophy type 1 were 203.9, 1160.3, and 2.3 per 100,000, respectively. The collective prevalence estimate of epithelial-stromal TGFBI dystrophies was 1365.2 per 100,000. This study provides a comprehensive analysis of TGFBI variants in a large homogenous Korean population and offers valuable insights into the genetic epidemiology of epithelial-stromal TGFBI dystrophies in South Korea. These findings contribute to a better understanding of the genetic prevalence of epithelial-stromal TGFBI dystrophies in the Korean population. |
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| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-07-01 |
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| spelling | doaj-art-574f902613fa4cd1a8af542cb781afb22025-08-20T03:45:57ZengNature PortfolioScientific Reports2045-23222025-07-011511610.1038/s41598-025-08189-7Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean populationEun Hye Cho0Myoungkeun Lee1Chang-Seok Ki2Chang Ahn Seol3Mi-Ae Jang4Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of MedicineGC GenomeGC GenomeGC GenomeDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of MedicineAbstract Epithelial-stromal TGFBI dystrophies are a group of inherited corneal disorders associated with variants in the TGFBI. This study investigated the allele frequency of major TGFBI variants and estimated the prevalence of epithelial-stromal TGFBI dystrophies in a large Korean population. Genetic analysis was performed on 129,933 individuals who underwent health checkups between July 2021 and August 2024. The presence of six major variants, R124L, R555Q, R124C, P501T, R555W, and R124H, was analyzed using next-generation sequencing. Three variants were detected in this study: R124H, P501T, and R555W, with allele frequencies of 0.10%, 0.58%, and 0.001%, respectively. The prevalence estimates for granular corneal dystrophy type 2, lattice corneal dystrophy variant, and granular corneal dystrophy type 1 were 203.9, 1160.3, and 2.3 per 100,000, respectively. The collective prevalence estimate of epithelial-stromal TGFBI dystrophies was 1365.2 per 100,000. This study provides a comprehensive analysis of TGFBI variants in a large homogenous Korean population and offers valuable insights into the genetic epidemiology of epithelial-stromal TGFBI dystrophies in South Korea. These findings contribute to a better understanding of the genetic prevalence of epithelial-stromal TGFBI dystrophies in the Korean population.https://doi.org/10.1038/s41598-025-08189-7Epithelial-stromal TGFBI dystrophiesTGFBIAllele frequencyPrevalenceKorean |
| spellingShingle | Eun Hye Cho Myoungkeun Lee Chang-Seok Ki Chang Ahn Seol Mi-Ae Jang Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population Scientific Reports Epithelial-stromal TGFBI dystrophies TGFBI Allele frequency Prevalence Korean |
| title | Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population |
| title_full | Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population |
| title_fullStr | Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population |
| title_full_unstemmed | Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population |
| title_short | Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population |
| title_sort | genetic epidemiology of epithelial stromal tgfbi dystrophies in a large korean population |
| topic | Epithelial-stromal TGFBI dystrophies TGFBI Allele frequency Prevalence Korean |
| url | https://doi.org/10.1038/s41598-025-08189-7 |
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