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01-09-2017 | Original Paper

rs3851179 Polymorphism at 5′ to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population

Authors: Cíntia Barros Santos-Rebouças, Andressa Pereira Gonçalves, Jussara Mendonça dos Santos, Bianca Barbosa Abdala, Luciana Branco Motta, Jerson Laks, Margarete Borges de Borges, Ana Lúcia Zuma de Rosso, João Santos Pereira, Denise Hack Nicaretta, Márcia Mattos Gonçalves Pimentel

Published in: NeuroMolecular Medicine | Issue 2-3/2017

Abstract

Alzheimer’s (AD) and Parkinson’s diseases (PD) share clinical and pathological features, suggesting that they could have common pathogenic mechanisms, as well as overlapping genetic modifiers. Here, we performed a case–control study in a Brazilian population to clarify whether the risk of AD and PD might be influenced by shared polymorphisms at PICALM (rs3851179), CR1 (rs6656401) and CLU (rs11136000) genes, which were previously identified as AD risk factors by genome-wide association studies. For this purpose, 174 late-onset AD patients, 166 PD patients and 176 matched controls were genotyped using TaqMan^® assays. The results revealed that there were significant differences in genotype and allele frequencies for the SNP PICALM rs3851179 between AD/PD cases and controls, but none for CR1 rs6656401 and CLU rs11136000 intronic polymorphisms. After stratification by APOE ε4 status, the protective effect of the PICALM rs3851179 A allele in AD cases remains evident only in APOE ε4 (−) carriers, suggesting that the APOE ε4 risky allele weakens its protective effect in the APOE ε4 (+) subgroup. More genetic studies using large-sized and well-defined matched samples of AD and PD patients from mixed populations as well as functional correlation analysis are urgently needed to clarify the role of rs3851179 in the AD/PD risk. An understanding of the contribution of rs3851179 to the development of AD and PD could provide new targets for the development of novel therapies.

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Ando, K., Tomimura, K., Sazdovitch, V., Suain, V., Yilmaz, Z., Authelet, M., et al. (2016). Level of PICALM, a key component of clathrin-mediated endocytosis, is correlated with levels of phosphotau and autophagy-related proteins and is associated with tau inclusions in AD, PSP and Pick disease. Neurobiology of Disease, 94, 32–43.CrossRefPubMed

Barrett, M. J., Koeppel, A. F., Flanigan, J. L., Turner, S. D., & Worrall, B. B. (2016). Investigation of genetic variants associated with Alzheimer disease in Parkinson disease cognition. Journal of Parkinson’s Disease, 6, 119–124.CrossRefPubMed

Belcavello, L., Camporez, D., Almeida, L. D., Morelato, R. L., Batitucci, M. C., & de Paula, F. (2015). Association of MTHFR and PICALM polymorphisms with Alzheimer’s disease. Molecular Biology Reports, 42, 611–616.CrossRefPubMed

Caballol, N., Marti, M. J., & Tolosa, E. (2007). Cognitive dysfunction and dementia in Parkinson disease. Movement Disorders, 22, S358–S366.CrossRefPubMed

Chen, L. H., Kao, P. Y., Fan, Y. H., Ho, D. T., Chan, C. S., Yik, P. Y., et al. (2012). Polymorphisms of CR1, CLU and PICALM confer susceptibility of Alzheimer’s disease in a southern Chinese population. Neurobiology of Aging, 33, e1–e7.CrossRef

Cheng, F., Li, X., Li, Y., Wang, C., Wang, T., Liu, G., et al. (2011). α-Synuclein promotes clathrin-mediated NMDA receptor endocytosis and attenuates NMDA-induced dopaminergic cell death. Journal of Neurochemistry, 119, 815–825.CrossRefPubMed

Chung, S. J., Jung, Y., Hong, M., Kim, M. J., You, S., Kim, Y. J., et al. (2013). Alzheimer’s disease and Parkinson’s disease genome-wide association study top hits and risk of Parkinson’s disease in Korean population. Neurobiology of Aging, 34(2695), e1–e7.

Costello, S., Bordelon, Y., Bronstein, J., & Ritz, B. (2010). Familial associations of Alzheimer disease and essential tremor with Parkinson disease. European Journal of Neurology, 17, 871–878.CrossRefPubMedPubMedCentral

Cuyvers, E., & Sleegers, K. (2016). Genetic variations underlying Alzheimer’s disease: evidence from genome-wide association studies and beyond. Lancet Neurology, 15, 857–868.CrossRefPubMed

Ferrari, R., Moreno, J. H., Minhajuddin, A. T., O’Bryant, S. E., Reisch, J. S., Barber, R. C., et al. (2012). Implication of common and disease specific variants in CLU, CR1, and PICALM. Neurobiology of Aging, 33(1846), e7–e18.

Gao, J., Huang, X., Park, Y., Hollenbeck, A., & Chen, H. (2011). An exploratory study on CLU, CR1 and PICALM and Parkinson disease. PLoS ONE, 6, e24211.CrossRefPubMedPubMedCentral

Harel, A., Wu, F., Mattson, M. P., Morris, C. M., & Yao, P. J. (2008). Evidence for CALM in directing VAMP2 trafficking. Traffic, 9, 417–429.CrossRefPubMed

Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., et al. (2009). Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer’s disease. Nature Genetics, 41, 1088–1093.CrossRefPubMedPubMedCentral

Hernandez, D. G., Reed, X., & Singleton, A. B. (2016). Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance. Journal of Neurochemistry. doi:10.1111/jnc.13593.

Hixson, J. E., & Vernier, D. T. (1990). Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. Journal of Lipid Research, 31, 545–548.PubMed

Hughes, A. J., Ben-Shlomo, Y., Daniel, S. E., & Lees, A. J. (2001). What features improve the accuracy of clinical diagnosis in Parkinson’s disease: a clinicopathologic study 1992. Neurology, 57, S34–S38.CrossRefPubMed

Kalia, L. V., & Lang, A. E. (2016). Parkinson disease in 2015: Evolving basic, pathological and clinical concepts in PD. Nature Reviews Neurology, 12, 65–66.CrossRefPubMed

Kalinderi, K., Bostantjopoulou, S., Katsarou, Z., Clarimón, J., & Fidani, L. (2012). Lack of association of the PICALM rs3851179 polymorphism with Parkinson’s disease in the Greek population. International Journal of Neuroscience, 122, 502–605.CrossRefPubMed

Kim, J., Yoon, H., Basak, J., & Kim, J. (2014). Apolipoprotein E in synaptic plasticity and Alzheimer’s disease: potential cellular and molecular mechanisms. Molecules and Cells, 37, 767–776.CrossRefPubMedPubMedCentral

Kisos, H., Ben-Gedalya, T., & Sharon, R. (2014). The clathrin-dependent localization of dopamine transporter to surface membranes is affected by α-synuclein. Journal of Molecular Neuroscience, 52, 167–176.CrossRefPubMed

Lambert, J. C., Heath, S., Even, G., Campion, D., Sleegers, K., Hiltunen, M., et al. (2009). Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer’s disease. Nature Genetics, 41, 1094–1099.CrossRefPubMed

Macleod, D. A., Rhinn, H., Kuwahara, T., Zolin, A., Di Paolo, G., Maccabe, B. D., et al. (2013). RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson’s disease risk. Neuron, 77, 425–439.CrossRefPubMedPubMedCentral

McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D., & Stadlan, E. M. (1984). Clinical diagnosis of Alzheimer’s disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer’s Disease. Neurology, 34, 939–944.CrossRefPubMed

Mengel-From, J., Christensen, K., McGue, M., & Christiansen, L. (2011). Genetic variations in the CLU and PICALM genes are associated with cognitive function in the oldest old. Neurobiololy of Aging, 32, e7–e11.

Miyashita, A., Koike, A., Jun, G., Wang, L. S., Takahashi, S., Matsubara, E., et al. (2013). SORL1 is genetically associated with late-onset Alzheimer’s disease in Japanese, Koreans and Caucasians. PLoS One, 8, e58618.CrossRefPubMedPubMedCentral

Morgen, K., Ramirez, A., Frölich, L., Tost, H., Plichta, M. M., Kölsch, H., et al. (2014). Genetic interaction of PICALM and APOE is associated with brain atrophy and cognitive impairment in Alzheimer’s disease. Alzheimer’s & Dementia, 10, S269–S276.CrossRef

Oh, S. H., Kim, H. N., Park, H. J., Shin, J. Y., Bae, E. J., Sunwoo, M. K., et al. (2016). Mesenchymal Stem Cells Inhibit Transmission of α-Synuclein by Modulating Clathrin-Mediated Endocytosis in a Parkinsonian Model. Cell Reports, 14, 835–849.CrossRefPubMed

Parikh, I., Fardo, D. W., & Estus, S. (2014). Genetics of PICALM expression and Alzheimer’s disease. PLoS ONE, 9, e91242.CrossRefPubMedPubMedCentral

Parra, F. C., Amado, R. C., Lambertucci, J. R., Rocha, J., Antunes, C. M., & Pena, S. D. (2003). Color and genomic ancestry in Brazilians. Proceedings of the National Academy of Sciences USA, 100, 177–182.CrossRef

Rosen, A. R., Steenland, N. K., Hanfelt, J., Factor, S. A., Lah, J. J., & Levey, A. I. (2007). Evidence of shared risk for Alzheimer’s disease and Parkinson’s disease using family history. Neurogenetics, 8, 263–270.CrossRefPubMedPubMedCentral

Rosenberg, R. N., Lambracht-Washington, D., Yu, G., & Xia, W. (2016). Genomics of Alzheimer Disease: A Review. JAMA Neurology, 73, 867–874.CrossRefPubMed

Ross, C. A., & Poirier, M. A. (2004). Protein aggregation and neurodegenerative disease. Nature Medicine, 10, S10–S17.CrossRefPubMed

Ruiz, A., Hernández, I., Ronsende-Roca, M., González-Pérez, A., Rodriguez-Noriega, E., Ramírez-Lorca, R., et al. (2013). Exploratory analysis of seven Alzheimer’s disease genes: Disease progression. Neurobiolology of Aging, 34, e1–e7.CrossRef

Scheltens, P., Blennow, K., Breteler, M. M., de Strooper, B., Frisoni, G. B., Salloway, S., et al. (2016). Alzheimer’s disease. Lancet, S0140–6736, 01124.

Wang, Y. Q., Tang, B. S., Yang, Y., Cui, Y. T., Kang, J. F., Liu, Z. H., et al. (2016). Relationship between Alzheimer’s disease GWAS-linked top hits and risk of Parkinson’s disease with or without cognitive decline: a Chinese population-based study. Neurobiology of Aging, 39(e9–217), e11.

Wijsman, E. M., Pankratz, N. D., Choi, Y., Rothstein, J. H., Faber, K. M., Cheng, R., et al. (2011). Genome-wide association of familial late-onset Alzheimer’s disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. PLoS Genetics, 7, e1001308.CrossRefPubMedPubMedCentral

Yu, J. T., Song, J. H., Ma, T., Zhang, W., Yu, N. N., Xuan, S. Y., et al. (2011). Genetic association of PICALM polymorphisms with Alzheimer’s disease in Han Chinese. Journal of the Neurological Sciences, 300, 78–80.CrossRefPubMed

Zhao, Z., Sagare, A. P., Ma, Q., Halliday, M. R., Kong, P., Kisler, K., et al. (2015). Central role for PICALM in amyloid-β blood-brain barrier transcytosis and clearance. Nature Neuroscience, 18, 978–987.CrossRefPubMedPubMedCentral

Title: rs3851179 Polymorphism at 5′ to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population
Authors: Cíntia Barros Santos-Rebouças
Andressa Pereira Gonçalves
Jussara Mendonça dos Santos
Bianca Barbosa Abdala
Luciana Branco Motta
Jerson Laks
Margarete Borges de Borges
Ana Lúcia Zuma de Rosso
João Santos Pereira
Denise Hack Nicaretta
Márcia Mattos Gonçalves Pimentel
Publication date: 01-09-2017
Publisher: Springer US
Published in: NeuroMolecular Medicine / Issue 2-3/2017
Print ISSN: 1535-1084
Electronic ISSN: 1559-1174
DOI: https://doi.org/10.1007/s12017-017-8444-z

At a glance: The STEP trials

Springer Medicine

rs3851179 Polymorphism at 5′ to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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