TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy
Abstract Purpose Fuchs' endothelial corneal dystrophy (FECD) has been considered a genetically heterogeneous disease but is increasingly associated with the transcription factor 4 ( TCF4 ) gene. This study investigates the prevalence of the cytosine‐thymine‐guanine (CTG) n repeat expansion in T...
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crwiley:10.1111/aos.15032 2024-09-30T14:40:16+00:00 TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy Viberg, Andreas Westin, Ida Maria Golovleva, Irina Byström, Berit Stiftelsen Kronprinsessan Margaretas Arbetsnämnd för Synskadade Ögonfonden 2021 http://dx.doi.org/10.1111/aos.15032 https://onlinelibrary.wiley.com/doi/pdf/10.1111/aos.15032 https://onlinelibrary.wiley.com/doi/full-xml/10.1111/aos.15032 en eng Wiley http://creativecommons.org/licenses/by-nc-nd/4.0/ Acta Ophthalmologica volume 100, issue 5, page 541-548 ISSN 1755-375X 1755-3768 journal-article 2021 crwiley https://doi.org/10.1111/aos.15032 2024-09-05T05:07:28Z Abstract Purpose Fuchs' endothelial corneal dystrophy (FECD) has been considered a genetically heterogeneous disease but is increasingly associated with the transcription factor 4 ( TCF4 ) gene. This study investigates the prevalence of the cytosine‐thymine‐guanine (CTG) n repeat expansion in TCF4 among FECD patients in northern Sweden coupled to the phenotype. Methods Blood samples were collected from 85 FECD cases at different stages. Short tandem repeat PCR and triplet repeat‐primed PCR were applied in order to determine TCF4 (CTG) n genotype. Results A (CTG) n repeat expansion ( n > 50) in TCF4 was identified in 76 of 85 FECD cases (89.4%) and in four of 102 controls (3.9%). The median (CTG) n repeat length was 81 (IQR 39.3) in mild FECD and 87 (IQR 13.0) in severe FECD (p = 0.01). A higher number of (CTG) n repeats in an expanded TCF4 allele increased the probability of severe FECD. Other ocular surgery was overrepresented in FECD cases without a (CTG) n repeat expansion (44.4%, n = 4) compared with 3.9% ( n = 3) in FECD cases with an (CTG) n repeat expansion (p < 0.001). Conclusion In northern Sweden, the FECD phenotype is associated with (CTG) n expansion in the TCF4 gene, with nearly 90% of patients being hetero‐ or homozygous for (CTG) n expansion over 50 repeats. Furthermore, the severity of FECD was associated with the repeat length in the TCF4 gene. Ocular surgery might act as an environmental factor explaining the clinical disease in FECD without a repeat expansion in TCF4 . Article in Journal/Newspaper Northern Sweden Wiley Online Library Fuchs ENVELOPE(-68.666,-68.666,-67.233,-67.233) Acta Ophthalmologica 100 5 541 548 |
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Open Polar |
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Wiley Online Library |
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crwiley |
language |
English |
description |
Abstract Purpose Fuchs' endothelial corneal dystrophy (FECD) has been considered a genetically heterogeneous disease but is increasingly associated with the transcription factor 4 ( TCF4 ) gene. This study investigates the prevalence of the cytosine‐thymine‐guanine (CTG) n repeat expansion in TCF4 among FECD patients in northern Sweden coupled to the phenotype. Methods Blood samples were collected from 85 FECD cases at different stages. Short tandem repeat PCR and triplet repeat‐primed PCR were applied in order to determine TCF4 (CTG) n genotype. Results A (CTG) n repeat expansion ( n > 50) in TCF4 was identified in 76 of 85 FECD cases (89.4%) and in four of 102 controls (3.9%). The median (CTG) n repeat length was 81 (IQR 39.3) in mild FECD and 87 (IQR 13.0) in severe FECD (p = 0.01). A higher number of (CTG) n repeats in an expanded TCF4 allele increased the probability of severe FECD. Other ocular surgery was overrepresented in FECD cases without a (CTG) n repeat expansion (44.4%, n = 4) compared with 3.9% ( n = 3) in FECD cases with an (CTG) n repeat expansion (p < 0.001). Conclusion In northern Sweden, the FECD phenotype is associated with (CTG) n expansion in the TCF4 gene, with nearly 90% of patients being hetero‐ or homozygous for (CTG) n expansion over 50 repeats. Furthermore, the severity of FECD was associated with the repeat length in the TCF4 gene. Ocular surgery might act as an environmental factor explaining the clinical disease in FECD without a repeat expansion in TCF4 . |
author2 |
Stiftelsen Kronprinsessan Margaretas Arbetsnämnd för Synskadade Ögonfonden |
format |
Article in Journal/Newspaper |
author |
Viberg, Andreas Westin, Ida Maria Golovleva, Irina Byström, Berit |
spellingShingle |
Viberg, Andreas Westin, Ida Maria Golovleva, Irina Byström, Berit TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy |
author_facet |
Viberg, Andreas Westin, Ida Maria Golovleva, Irina Byström, Berit |
author_sort |
Viberg, Andreas |
title |
TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy |
title_short |
TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy |
title_full |
TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy |
title_fullStr |
TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy |
title_full_unstemmed |
TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy |
title_sort |
tcf4 trinucleotide repeat expansion in swedish cases with fuchs' endothelial corneal dystrophy |
publisher |
Wiley |
publishDate |
2021 |
url |
http://dx.doi.org/10.1111/aos.15032 https://onlinelibrary.wiley.com/doi/pdf/10.1111/aos.15032 https://onlinelibrary.wiley.com/doi/full-xml/10.1111/aos.15032 |
long_lat |
ENVELOPE(-68.666,-68.666,-67.233,-67.233) |
geographic |
Fuchs |
geographic_facet |
Fuchs |
genre |
Northern Sweden |
genre_facet |
Northern Sweden |
op_source |
Acta Ophthalmologica volume 100, issue 5, page 541-548 ISSN 1755-375X 1755-3768 |
op_rights |
http://creativecommons.org/licenses/by-nc-nd/4.0/ |
op_doi |
https://doi.org/10.1111/aos.15032 |
container_title |
Acta Ophthalmologica |
container_volume |
100 |
container_issue |
5 |
container_start_page |
541 |
op_container_end_page |
548 |
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1811642768821321728 |