HTT, ATXN1 and ATXN2 CAG triplet repeat sizes: exploring their role in the disease risk and cancer comorbidity in Parkinson's disease

被引：0

作者：

Perez-Oliveira, Sergio ^{[1
,2
]}

Alvarez, Ignacio ^{[3
,4
]}

Menendez-Gonzalez, Manuel ^{[2
,5
]}

Duarte-Herrera, Israel David ^{[2
,7
]}

Blazquez-Estrada, Marta ^{[2
,5
,6
]}

Castilla-Silgado, Juan ^{[8
]}

Suarez, Esther ^{[2
,5
]}

Garcia-Fernandez, Ciara ^{[2
,5
]}

Siso-Garcia, Pablo ^{[2
,9
]}

Garcia-Gonzalez, Pablo ^{[10
]}

Rosende-Roca, Maitee ^{[10
,11
]}

Boada, Merce ^{[10
,11
]}

Ruiz, Agustin ^{[10
,11
]}

Infante, Jon ^{[11
,12
]}

de la Casa-fages, Beatriz ^{[13
,14
]}

Gonzalez-Aramburu, Isabel ^{[11
,12
]}

Alvarez, Victoria ^{[1
,2
]}

Pastor, Pau ^{[15
,16
]}

机构：

[1] Hosp Univ Cent Asturias, Lab Genet, Oviedo 33011, Spain

[2] Inst Invest Sanit Principado Asturias ISPA, Oviedo 33011, Spain

[3] Univ Hosp Mutua Terrassa, Movement Disorders Unit, Dept Neurol, Barcelona 08221, Spain

[4] Fundacio Docencia & Recerca Mutua Terrassa, Terrassa 08221, Barcelona, Spain

[5] Hosp Univ Cent Asturias, Serv Neurol, Oviedo 33011, Spain

[6] Univ Oviedo, Dept Med, Oviedo 33006, Spain

[7] Networked Biomed Res Ctr CIBER Resp Dis, Madrid 28029, Spain

[8] Asociac Parkinson Asturias APARKAS, Oviedo 33011, Spain

[9] Hosp Univ Cabuenes, Serv Neurol, Gijon 33394, Spain

[10] Univ Int Catalunya, Ace Alzheimer Ctr Barcelona, Barcelona 08028, Spain

[11] Inst Salud Carlos III, Networking Res Ctr Neurodegenerat Dis CIBERNED, Madrid 28029, Spain

[12] Univ Cantabria, Marques Valdecilla Univ Hosp, Dept Neurol, Santander 39008, Spain

[13] Hosp Gen Univ Gregorio Maranon, Dept Neurol, Movement Disorders Unit, Madrid 28007, Spain

[14] Inst Invest Sanit Gregorio Maranon, Madrid 28007, Spain

[15] Univ Hosp Germans Trias & Pujol, Dept Neurol, Unit Neurodegenerat Dis, Barcelona 08916, Spain

[16] Germans Trias & Pujol Res Inst IGTP Badalona, Barcelona 08916, Spain

来源：

BRAIN COMMUNICATIONS | 2025年 / 7卷 / 01期

关键词：

Parkinson's disease; cancer; CAG repeats; TUMOR-SUPPRESSOR GENE; ASSOCIATION; PREVALENCE;

D O I：

10.1093/braincomms/fcaf060

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Parkinson's disease genetic embraces genetic and non-genetic factors. It has been suggested a link between CAG repeat number in the HTT, ATXN1 and ATXN2 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 ATXN1, ATXN2 and HTT 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 HTT, ATXN1 and ATXN2 genes were analysed. Dunn's multiple comparison test for quantitative variables and logistic and linear regression were used. The long ATXN1 and HTT alleles and CAG size and both the ATXN2 short and long alleles were predictors for the Parkinson's disease risk. The long CAG ATXN1 allele gene was associated with the risk of cancer. No association was observed between CAG size in the HTT and ATXN2 genes and risk of cancer in patients with Parkinson's disease. We described an association of HTT, ATXN1 and ATXN2 with the risk of Parkinson's disease, which reinforce the hypothesis of the common pathway of neurodegeneration. Besides, ATXN1 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. P & eacute;rez-Oliveira et al. reported association between CAG repeat expansion disorders and the risk of Parkinson disease and also investigated the connection between CAG repeats and cancer comorbidity in patients with Parkinson's disease. ATXN1 could be a predictor of cancer risk among patients with Parkinson's disease, suggesting that cancer and neurodegeneration process can share common pathways.

引用

页数：12

共 12 条

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Perez Oliveira, Sergio
Alvarez Fernandez, Ignacio
Menendez-Gonzalez, Manuel
David Duarte-Herrera, Israel
Blazquez-Estrada, Marta
Suarez, Esther
Garcia-Fernandez, Ciara
Siso-Garcia, Pablo
Garcia-Gonzalez, Pablo
Rosende-Roca, Maitee
Boada, Merce
Ruiz, Agustin
Infante, Jon
De la Casa Fages, Beatriz
Gonzalez-Aramburu, Isabel
Alvarez Martinez, Maria Victoria
Pastor, Pau
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1474 - 1474
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BRAIN COMMUNICATIONS, 2024, 6 (02)
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EUROPEAN JOURNAL OF NEUROLOGY, 2019, 26 : 233 - 233
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EUROPEAN JOURNAL OF NEUROLOGY, 2015, 22 : 257 - 257
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FRONTIERS IN MOLECULAR NEUROSCIENCE, 2017, 10
[10] THE ROLE OF FAN1 IN HTT CAG REPEAT INSTABILITY AND AGE AT ONSET IN THE R6/1 MOUSE MODEL OF HUNTINGTON'S DISEASE
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JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2022, 93 : A18 - A18

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