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以及CAG三联体重复序列长度:探讨它们在帕金森病的疾病风险和癌症合并症中的作用。

and CAG triplet repeat sizes: exploring their role in the disease risk and cancer comorbidity in Parkinson's disease.

作者信息

Pérez-Oliveira Sergio, Álvarez Ignacio, Menéndez-González Manuel, Duarte-Herrera Israel David, Blázquez-Estrada Marta, Castilla-Silgado Juan, Suárez Esther, García-Fernández Ciara, Siso-García Pablo, García-González Pablo, Rosende-Roca Maitee, Boada Mercè, Ruiz Agustín, Infante Jon, De la Casa-Fages Beatriz, González-Aramburu Isabel, Álvarez Victoria, Pastor Pau

机构信息

Laboratorio de Genética, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain.

Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.

出版信息

Brain Commun. 2025 Feb 6;7(1):fcaf060. doi: 10.1093/braincomms/fcaf060. eCollection 2025.

Abstract

Parkinson's disease genetic embraces genetic and non-genetic factors. It has been suggested a link between CAG repeat number in the and genes and different neurodegenerative diseases. Several genetic factors involved in Parkinson's disease development are indeed associated with cancer pathways. Moreover, several studies found a low prevalence of cancer in neurodegenerative diseases that can be associated with a low CAG repeat size in several genes. This study aimed to investigate the influence of CAG repeat sizes in and genes on the risk for developing cancer and Parkinson's disease in a large cohort of patients with idiopathic Parkinson's disease and healthy controls. The work included 1052 patients with idiopathic Parkinson's disease and 1070 controls of European ancestry. CAG repeat sizes in and 2 genes were analysed. Dunn's multiple comparison test for quantitative variables and logistic and linear regression were used. The long and alleles and CAG size and both the short and long alleles were predictors for the Parkinson's disease risk. The long CAG allele gene was associated with the risk of cancer. No association was observed between CAG size in the and genes and risk of cancer in patients with Parkinson's disease. We described an association of and with the risk of Parkinson's disease, which reinforce the hypothesis of the common pathway of neurodegeneration. Besides, could be a predictor of cancer risk among patients with Parkinson's disease, and these results suggest that cancer and neurodegeneration processes can share common pathways.

摘要

帕金森病遗传学涵盖遗传和非遗传因素。已有研究表明,[具体基因名称1]和[具体基因名称2]基因中的CAG重复次数与不同的神经退行性疾病之间存在联系。帕金森病发展过程中涉及的几个遗传因素确实与癌症通路相关。此外,多项研究发现,神经退行性疾病中癌症的患病率较低,这可能与多个基因中CAG重复序列较短有关。本研究旨在调查在一大群特发性帕金森病患者和健康对照中,[具体基因名称1]和[具体基因名称2]基因的CAG重复序列长度对患癌风险和帕金森病风险的影响。该研究纳入了1052例特发性帕金森病患者和1070例欧洲血统的对照。分析了[具体基因名称1]和[具体基因名称2]基因的CAG重复序列长度。采用了Dunn定量变量多重比较检验以及逻辑回归和线性回归分析。[具体基因名称1]的长等位基因和CAG序列长度以及[具体基因名称2]的短等位基因和长等位基因都是帕金森病风险的预测指标。[具体基因名称1]的长CAG等位基因与患癌风险相关。在帕金森病患者中,未观察到[具体基因名称1]和[具体基因名称2]基因的CAG序列长度与患癌风险之间存在关联。我们描述了[具体基因名称1]和[具体基因名称2]与帕金森病风险之间的关联,这强化了神经退行性变共同通路的假说。此外,[具体基因名称1]可能是帕金森病患者患癌风险的预测指标,这些结果表明癌症和神经退行性变过程可能共享共同通路。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7b1b/11837329/e4eb17993384/fcaf060_ga.jpg

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