publication . Article . 2019

The BIN1 rs744373 SNP is associated with increased tau-PET levels and impaired memory

Franzmeier, Nicolai; Rubinski, Anna; Neitzel, Julia; Ewers, Michael; Alzheimer’s Disease Neuroimaging Initiative (ADNI);
Open Access English
  • Published: 01 Apr 2019 Journal: Nature Communications, volume 10 (eissn: 2041-1723, Copyright policy)
  • Publisher: Nature Publishing Group UK
  • Country: Mexico
Abstract
The single nucleotide polymorphism (SNP) rs744373 in the bridging integrator-1 gene (BIN1) is a risk factor for Alzheimer’s disease (AD). In the brain, BIN1 is involved in endocytosis and sustaining cytoskeleton integrity. Post-mortem and in vitro studies suggest that BIN1-associated AD risk is mediated by increased tau pathology but whether rs744373 is associated with increased tau pathology in vivo is unknown. Here we find in 89 older individuals without dementia, that BIN1 rs744373 risk-allele carriers show higher AV1451 tau-PET across brain regions corresponding to Braak stages II–VI. In contrast, the BIN1 rs744373 SNP was not associated with AV45 amyloid-PE...
Subjects
Medical Subject Headings: mental disorders
free text keywords: Alzheimer’s Disease Neuroimaging Initiative, Brain, Cytoskeleton, Humans, Alzheimer Disease, Adaptor Proteins, Signal Transducing, tau Proteins, Tumor Suppressor Proteins, Nuclear Proteins, Positron-Emission Tomography, Magnetic Resonance Imaging, Risk Factors, Cognition, Memory, Endocytosis, Polymorphism, Single Nucleotide, Alleles, Aged, 80 and over, Female, Male, Genetic Variation, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Aging, Acquired Cognitive Impairment, Dementia, Brain Disorders, Genetics, Biomedical Imaging, Neurosciences, Alzheimer's Disease, Neurodegenerative, 2.1 Biological and endogenous factors, Neurological, and over, MD Multidisciplinary, Article, Science, Q
Funded by
CIHR
Project
  • Funder: Canadian Institutes of Health Research (CIHR)
,
NIH| Alzheimers Disease Neuroimaging Initiative
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 1U01AG024904-01
  • Funding stream: NATIONAL INSTITUTE ON AGING
,
EC| VASCAMY
Project
VASCAMY
Vascular and Aymloid Predictors of Neurodegeneration and Cognitive Decline in Nondemented Subjects.
  • Funder: European Commission (EC)
  • Project Code: 334259
  • Funding stream: FP7 | SP3 | PEOPLE
Communities
Neuroinformatics
72 references, page 1 of 5

Selkoe, DJ, Hardy, J. The amyloid hypothesis of Alzheimer’s disease at 25 years. EMBO Mol. Med.. 2016; 8: 595-608 [OpenAIRE] [PubMed] [DOI]

Ridge, PG. Assessment of the genetic variance of late-onset Alzheimer’s disease. Neurobiol. Aging. 2016; 41: 200 e213-200 e220 [OpenAIRE] [DOI]

Seshadri, S. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA. 2010; 303: 1832-1840 [OpenAIRE] [PubMed] [DOI]

Zhu, R, Liu, X, He, Z. The bridging integrator 1 gene polymorphism rs744373 and the risk of Alzheimer’s disease in caucasian and asian populations: an updated meta-analysis. Mol. Neurobiol.. 2017; 54: 1419-1428 [OpenAIRE] [PubMed] [DOI]

Hollingworth, P. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease. Nat. Genet.. 2011; 43: 429-435 [OpenAIRE] [PubMed] [DOI]

Wijsman, EM. Genome-wide association of familial late-onset Alzheimer’s disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. PLoS Genet.. 2011; 7: e1001308 [OpenAIRE] [PubMed] [DOI]

Almeida, JFF, Dos Santos, LR, Trancozo, M, de Paula, F. Updated meta-analysis of BIN1, CR1, MS4A6A, CLU, and ABCA7 variants in Alzheimer’s disease. J. Mol. Neurosci.. 2018; 64: 471-477 [OpenAIRE] [PubMed] [DOI]

Antunez, C. The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer’s disease. Genome Med.. 2011; 3: 33 [OpenAIRE] [PubMed] [DOI]

Hu, X. Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer’s disease. PLoS ONE. 2011; 6: e16616 [OpenAIRE] [PubMed] [DOI]

10.AlzGene. Meta-Analysis of all published AD association studies (case-control only) rs744373. Alzgene.org retreived on 23 August 2018.

Sakamuro, D, Elliott, KJ, Wechsler-Reya, R, Prendergast, GC. BIN1 is a novel MYC-interacting protein with features of a tumour suppressor. Nat. Genet.. 1996; 14: 69-77 [OpenAIRE] [PubMed] [DOI]

Butler, MH. Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of ranvier in brain and around T tubules in skeletal muscle. J. Cell. Biol.. 1997; 137: 1355-1367 [OpenAIRE] [PubMed] [DOI]

Prokic, I, Cowling, BS, Laporte, J. Amphiphysin 2 (BIN1) in physiology and diseases. J. Mol. Med (Berl). 2014; 92: 453-463 [OpenAIRE] [PubMed] [DOI]

Tan, MS, Yu, JT, Tan, L. Bridging integrator 1 (BIN1): form, function, and Alzheimer’s disease. Trends Mol. Med.. 2013; 19: 594-603 [OpenAIRE] [PubMed] [DOI]

Chapuis, J. Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology. Mol. Psychiatry. 2013; 18: 1225-1234 [OpenAIRE] [PubMed] [DOI]

72 references, page 1 of 5
Abstract
The single nucleotide polymorphism (SNP) rs744373 in the bridging integrator-1 gene (BIN1) is a risk factor for Alzheimer’s disease (AD). In the brain, BIN1 is involved in endocytosis and sustaining cytoskeleton integrity. Post-mortem and in vitro studies suggest that BIN1-associated AD risk is mediated by increased tau pathology but whether rs744373 is associated with increased tau pathology in vivo is unknown. Here we find in 89 older individuals without dementia, that BIN1 rs744373 risk-allele carriers show higher AV1451 tau-PET across brain regions corresponding to Braak stages II–VI. In contrast, the BIN1 rs744373 SNP was not associated with AV45 amyloid-PE...
Subjects
Medical Subject Headings: mental disorders
free text keywords: Alzheimer’s Disease Neuroimaging Initiative, Brain, Cytoskeleton, Humans, Alzheimer Disease, Adaptor Proteins, Signal Transducing, tau Proteins, Tumor Suppressor Proteins, Nuclear Proteins, Positron-Emission Tomography, Magnetic Resonance Imaging, Risk Factors, Cognition, Memory, Endocytosis, Polymorphism, Single Nucleotide, Alleles, Aged, 80 and over, Female, Male, Genetic Variation, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Aging, Acquired Cognitive Impairment, Dementia, Brain Disorders, Genetics, Biomedical Imaging, Neurosciences, Alzheimer's Disease, Neurodegenerative, 2.1 Biological and endogenous factors, Neurological, and over, MD Multidisciplinary, Article, Science, Q
Funded by
CIHR
Project
  • Funder: Canadian Institutes of Health Research (CIHR)
,
NIH| Alzheimers Disease Neuroimaging Initiative
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 1U01AG024904-01
  • Funding stream: NATIONAL INSTITUTE ON AGING
,
EC| VASCAMY
Project
VASCAMY
Vascular and Aymloid Predictors of Neurodegeneration and Cognitive Decline in Nondemented Subjects.
  • Funder: European Commission (EC)
  • Project Code: 334259
  • Funding stream: FP7 | SP3 | PEOPLE
Communities
Neuroinformatics
72 references, page 1 of 5

Selkoe, DJ, Hardy, J. The amyloid hypothesis of Alzheimer’s disease at 25 years. EMBO Mol. Med.. 2016; 8: 595-608 [OpenAIRE] [PubMed] [DOI]

Ridge, PG. Assessment of the genetic variance of late-onset Alzheimer’s disease. Neurobiol. Aging. 2016; 41: 200 e213-200 e220 [OpenAIRE] [DOI]

Seshadri, S. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA. 2010; 303: 1832-1840 [OpenAIRE] [PubMed] [DOI]

Zhu, R, Liu, X, He, Z. The bridging integrator 1 gene polymorphism rs744373 and the risk of Alzheimer’s disease in caucasian and asian populations: an updated meta-analysis. Mol. Neurobiol.. 2017; 54: 1419-1428 [OpenAIRE] [PubMed] [DOI]

Hollingworth, P. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease. Nat. Genet.. 2011; 43: 429-435 [OpenAIRE] [PubMed] [DOI]

Wijsman, EM. Genome-wide association of familial late-onset Alzheimer’s disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. PLoS Genet.. 2011; 7: e1001308 [OpenAIRE] [PubMed] [DOI]

Almeida, JFF, Dos Santos, LR, Trancozo, M, de Paula, F. Updated meta-analysis of BIN1, CR1, MS4A6A, CLU, and ABCA7 variants in Alzheimer’s disease. J. Mol. Neurosci.. 2018; 64: 471-477 [OpenAIRE] [PubMed] [DOI]

Antunez, C. The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer’s disease. Genome Med.. 2011; 3: 33 [OpenAIRE] [PubMed] [DOI]

Hu, X. Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer’s disease. PLoS ONE. 2011; 6: e16616 [OpenAIRE] [PubMed] [DOI]

10.AlzGene. Meta-Analysis of all published AD association studies (case-control only) rs744373. Alzgene.org retreived on 23 August 2018.

Sakamuro, D, Elliott, KJ, Wechsler-Reya, R, Prendergast, GC. BIN1 is a novel MYC-interacting protein with features of a tumour suppressor. Nat. Genet.. 1996; 14: 69-77 [OpenAIRE] [PubMed] [DOI]

Butler, MH. Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of ranvier in brain and around T tubules in skeletal muscle. J. Cell. Biol.. 1997; 137: 1355-1367 [OpenAIRE] [PubMed] [DOI]

Prokic, I, Cowling, BS, Laporte, J. Amphiphysin 2 (BIN1) in physiology and diseases. J. Mol. Med (Berl). 2014; 92: 453-463 [OpenAIRE] [PubMed] [DOI]

Tan, MS, Yu, JT, Tan, L. Bridging integrator 1 (BIN1): form, function, and Alzheimer’s disease. Trends Mol. Med.. 2013; 19: 594-603 [OpenAIRE] [PubMed] [DOI]

Chapuis, J. Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology. Mol. Psychiatry. 2013; 18: 1225-1234 [OpenAIRE] [PubMed] [DOI]

72 references, page 1 of 5
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