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Sex contribution to average age at onset of Huntington's disease depends on the number of (CAG)n repeats
Abstrakt
Huntington’s disease (HD) is a hereditary neurodegenerative disorder caused by the extension of the CAG repeats in exon 1 of the HTT gene and is transmitted in a dominant manner. The present study aimed to assess whether patients’ sex, in the context of mutated and normal allele length, contributes to age on onset (AO) of HD. The study population comprised a large cohort of 3723 HD patients from the European Huntington’s Disease Network’s REGISTRY database collected at 160 sites across 17 European countries and in one location outside Europe. The data were analyzed using regression models and factorial analysis of variance (ANOVA) considering both mutated allele length and sex as predictors of patients’ AO. AO, as described by the rater’s estimate, was found to be later in affected women than in men across the whole population. This difference was most pronounced in a subgroup of 1273 patients with relatively short variants of the mutated allele (40–45 CAG repeats) and normal alleles in a higher half of length distribution—namely, more than 17 CAG repeats; however, it was also observed in each group. Our results presented in this observational study point to sex-related differences in AO, most pronounced in the presence of the short mutated and long normal allele, which may add to understanding the dynamics of AO in Huntington’s Disease.
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Autorzy (7)
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Daniel Zielonka
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Magdalena Krygier
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Ewa Ziętkiewicz
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Jarosław Sławek
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Janusz Limon Prof. dr hab.
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Informacje szczegółowe
- Kategoria:
- Publikacja w czasopiśmie
- Typ:
- artykuły w czasopismach
- Opublikowano w:
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Scientific Reports
nr 14,
ISSN: 2045-2322 - Język:
- angielski
- Rok wydania:
- 2024
- Opis bibliograficzny:
- Stanisławska-Sachadyn A., Krzemiński M., Zielonka D., Krygier M., Ziętkiewicz E., Sławek J., Limon J.: Sex contribution to average age at onset of Huntington's disease depends on the number of (CAG)n repeats// Scientific Reports -,iss. 14(1) (2024), s.15729-
- DOI:
- Cyfrowy identyfikator dokumentu elektronicznego (otwiera się w nowej karcie) 10.1038/s41598-024-64105-5
- Źródła finansowania:
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- IDUB
- Weryfikacja:
- Politechnika Gdańska
wyświetlono 43 razy
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