<i>HTT, ATXN1</i> and <i>ATXN2</i> CAG triplet repeat sizes: exploring their role in the disease risk and cancer comorbidity in Parkinson’s disease
Parkinson's disease genetic embraces genetic and non-genetic factors. It has been suggested a link between CAG repeat number in the <i>HTT, ATXN1</i> and <i>ATXN2</i> 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 <i>ATXN1, ATXN2</i> and <i>HTT</i> 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 <i>HTT, ATXN1</i> and <i>ATXN</i>2 genes were analysed. Dunn's multiple comparison test for quantitative variables and logistic and linear regression were used. The long <i>ATXN1</i> and <i>HTT</i> alleles and CAG size and both the <i>ATXN2</i> short and long alleles were predictors for the Parkinson's disease risk. The long CAG <i>ATXN1</i> allele gene was associated with the risk of cancer. No association was observed between CAG size in the <i>HTT</i> and <i>ATXN2</i> genes and risk of cancer in patients with Parkinson's disease. We described an association of <i>HTT, ATXN1</i> and <i>ATXN2</i> with the risk of Parkinson's disease, which reinforce the hypothesis of the common pathway of neurodegeneration. Besides, <i>ATXN1</i> 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.
Authors
- Ignacio Álvarez (ORCID: https://orcid.org/0000-0002-8537-3935)
- Beatriz De la Casa‐Fages (ORCID: https://orcid.org/0000-0003-0486-3308)
- Isabel González Aramburu (ORCID: https://orcid.org/0000-0002-3696-4093)
- Agustı́n Ruiz (ORCID: https://orcid.org/0000-0003-2633-2495)
- Ciara García-Fernández
- Sergio Pérez‐Oliveira (ORCID: https://orcid.org/0000-0002-3292-0501)
- Pau Pástor (ORCID: https://orcid.org/0000-0002-7493-8777)
- Jon Infante (ORCID: https://orcid.org/0000-0003-4025-4606)
- Maitée Rosende‐Roca (ORCID: https://orcid.org/0000-0003-1778-8175)
- Marta Blázquez Estrada (ORCID: https://orcid.org/0000-0003-3348-9992)
- Victoria Álvarez (ORCID: https://orcid.org/0000-0002-1916-2523)
- Merçé Boada (ORCID: https://orcid.org/0000-0003-2617-3009)
- Israel David Duarte-Herrera (ORCID: https://orcid.org/0000-0001-5427-6019)
- Pablo García‐González (ORCID: https://orcid.org/0000-0003-0125-5403)
- Juan Castilla‐Silgado (ORCID: https://orcid.org/0000-0002-6266-8247)
- Manuel Menéndez‐González (ORCID: https://orcid.org/0000-0002-5218-0774)
- Esther Suárez
- Pablo Siso-García
Institutions
- Universidad de Cantabria (ES)
- Universidad de Oviedo (ES)
- Gobierno del Principado de Asturias (ES)
- Instituto de Salud Carlos III (ES)
- Hospital General Universitario Gregorio Marañón (ES)
- Universitat Internacional de Catalunya (ES)
- Biomedical Research Networking Center on Neurodegenerative Diseases (ES)
- University Hospital Mútua de Terrassa (ES)
- Marqués de Valdecilla University Hospital (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Hospital Universitario Central de Asturias (ES)
- Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (ES)
- Hospital Universitario De Cabueñes (ES)
- Medical Research Network (US)
- Instituto de Investigación Sanitaria del Principado de Asturias (ES)
Publication Details
- Journal
- Brain Communications
- Published
- 2024-12-24
- DOI
- https://doi.org/10.1093/braincomms/fcaf060
- Citations
- 1
- Primary Topic
- Parkinson's Disease Mechanisms and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.37
Funders
- European Federation of Pharmaceutical Industries and Associations
- European Commission
- Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas
- Instituto de Salud Carlos III