Human whole genome genotype and transcriptome data for Alzheimer's and other neurodegenerative diseases

被引:264
作者
Allen, Mariet [1 ]
Carrasquillo, Minerva M. [1 ]
Funk, Cory [2 ]
Heavner, Benjamin D. [2 ]
Zou, Fanggeng [1 ]
Younkin, Curtis S. [3 ]
Burgess, Jeremy D. [1 ]
Chai, High-Seng [4 ]
Crook, Julia [2 ]
Eddy, James A. [2 ]
Li, Hongdong [2 ]
Logsdon, Ben [5 ]
Peters, Mette A. [5 ]
Dang, Kristen K. [5 ]
Wang, Xue [3 ]
Serie, Daniel [3 ]
Wang, Chen [4 ]
Thuy Nguyen [1 ]
Lincoln, Sarah [1 ]
Malphrus, Kimberly [1 ]
Bisceglio, Gina [1 ]
Li, Ma [1 ]
Golde, Todd E. [6 ]
Mangravite, Lara M. [5 ]
Asmann, Yan [2 ]
Price, Nathan D. [2 ]
Petersen, Ronald C. [7 ]
Graff-Radford, Neill R. [8 ]
Dickson, Dennis W. [1 ]
Younkin, Steven G. [1 ]
Ertekin-Taner, Nilufer [1 ,8 ]
机构
[1] Mayo Clin, Dept Neurosci, 4500 San Pablo Rd, Jacksonville, FL 32224 USA
[2] Inst Syst Biol, 401 Terry Ave N, Seattle, WA 98109 USA
[3] Mayo Clin, Dept Hlth Sci Res, 4500 San Pablo Rd, Jacksonville, FL 32224 USA
[4] Mayo Clin, Dept Hlth Sci Res, 200 First St, Rochester, MN 55905 USA
[5] Sage Bionetworks, 1100 Fairview Ave N, Seattle, WA 98109 USA
[6] Univ Florida, Ctr Translat Res Neurodegenerat Dis, 1275 Ctr Dr, Gainesville, FL 32611 USA
[7] Mayo Clin, Dept Neurol, 200 First St, Rochester, MN 55905 USA
[8] Mayo Clin, Dept Neurol, 4500 San Pablo Rd, Jacksonville, FL 32224 USA
关键词
BRAIN GENE-EXPRESSION; WIDE ASSOCIATION; COMMON VARIANTS; IDENTIFIES VARIANTS; RISK; LOCI; SUSCEPTIBILITY; DIAGNOSIS; CD2AP; EPHA1;
D O I
10.1038/sdata.2016.89
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Previous genome-wide association studies (GWAS), conducted by our group and others, have identified loci that harbor risk variants for neurodegenerative diseases, including Alzheimer's disease (AD). Human disease variants are enriched for polymorphisms that affect gene expression, including some that are known to associate with expression changes in the brain. Postulating that many variants confer risk to neurodegenerative disease via transcriptional regulatory mechanisms, we have analyzed gene expression levels in the brain tissue of subjects with AD and related diseases. Herein, we describe our collective datasets comprised of GWAS data from 2,099 subjects; microarray gene expression data from 773 brain samples, 186 of which also have RNAseq; and an independent cohort of 556 brain samples with RNAseq. We expect that these datasets, which are available to all qualified researchers, will enable investigators to explore and identify transcriptional mechanisms contributing to neurodegenerative diseases.
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页数:10
相关论文
共 40 条
[1]  
Allen M., 2016, SYNAPSE
[2]   Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci [J].
Allen, Mariet ;
Burgess, Jeremy D. ;
Ballard, Travis ;
Serie, Daniel ;
Wang, Xue ;
Younkin, Curtis S. ;
Sun, Zhifu ;
Kouri, Naomi ;
Baheti, Saurabh ;
Wang, Chen ;
Carrasquillo, Minerva M. ;
Thuy Nguyen ;
Lincoln, Sarah ;
Malphrus, Kimberly ;
Murray, Melissa ;
Golde, Todd E. ;
Price, Nathan D. ;
Younkin, Steven G. ;
Schellenberg, Gerard D. ;
Asmann, Yan ;
Ordog, Tamas ;
Crook, Julia ;
Dickson, Dennis ;
Ertekin-Taner, Nilufer .
ACTA NEUROPATHOLOGICA, 2016, 132 (02) :197-211
[3]   Late-onset Alzheimer disease risk variants mark brain regulatory loci [J].
Allen, Mariet ;
Kachadoorian, Michaela ;
Carrasquillo, Minerva M. ;
Karhade, Aditya ;
Manly, Lester ;
Burgess, Jeremy D. ;
Wang, Chen ;
Serie, Daniel ;
Wang, Xue ;
Siuda, Joanna ;
Zou, Fanggeng ;
Chai, High Seng ;
Younkin, Curtis ;
Crook, Julia ;
Medway, Christopher ;
Thuy Nguyen ;
Ma, Li ;
Malphrus, Kimberly ;
Lincoln, Sarah ;
Petersen, Ronald C. ;
Graff-Radford, Neill R. ;
Asmann, Yan W. ;
Dickson, Dennis W. ;
Younkin, Steven G. ;
Ertekin-Taner, Nilufer .
NEUROLOGY-GENETICS, 2015, 1 (02)
[4]   Association of MAPT haplotypes with Alzheimer's disease risk and MAPT brain gene expression levels [J].
Allen, Mariet ;
Kachadoorian, Michaela ;
Quicksall, Zachary ;
Zou, Fanggeng ;
Chai, High Seng ;
Younkin, Curtis ;
Crook, Julia E. ;
Pankratz, V. Shane ;
Carrasquillo, Minerva M. ;
Krishnan, Siddharth ;
Thuy Nguyen ;
Ma, Li ;
Malphrus, Kimberly ;
Lincoln, Sarah ;
Bisceglio, Gina ;
Kolbert, Christopher P. ;
Jen, Jin ;
Mukherjee, Shubhabrata ;
Kauwe, John K. ;
Crane, Paul K. ;
Haines, Jonathan L. ;
Mayeux, Richard ;
Pericak-Vance, Margaret A. ;
Farrer, Lindsay A. ;
Schellenberg, Gerard D. ;
Parisi, Joseph E. ;
Petersen, Ronald C. ;
Graff-Radford, Neill R. ;
Dickson, Dennis W. ;
Younkin, Steven G. ;
Ertekin-Taner, Niluefer .
ALZHEIMERS RESEARCH & THERAPY, 2014, 6 (04)
[5]   Novel late-onset Alzheimer disease loci variants associate with brain gene expression [J].
Allen, Mariet ;
Zou, Fanggeng ;
Chai, High Seng ;
Younkin, Curtis S. ;
Crook, Julia ;
Pankratz, V. Shane ;
Carrasquillo, Minerva M. ;
Rowley, Christopher N. ;
Nair, Asha A. ;
Middha, Sumit ;
Maharjan, Sooraj ;
Thuy Nguyen ;
Ma, Li ;
Malphrus, Kimberly G. ;
Palusak, Ryan ;
Lincoln, Sarah ;
Bisceglio, Gina ;
Georgescu, Constantin ;
Schultz, Debra ;
Rakhshan, Fariborz ;
Kolbert, Christopher P. ;
Jen, Jin ;
Haines, Jonathan L. ;
Mayeux, Richard ;
Pericak-Vance, Margaret A. ;
Farrer, Lindsay A. ;
Schellenberg, Gerard D. ;
Petersen, Ronald C. ;
Graff-Radford, Neill R. ;
Dickson, Dennis W. ;
Younkin, Steven G. ;
Ertekin-Taner, Niluefer .
NEUROLOGY, 2012, 79 (03) :221-228
[6]   Glutathione S-transferase omega genes in Alzheimer and Parkinson disease risk, age-at-diagnosis and brain gene expression: an association study with mechanistic implications [J].
Allen, Mariet ;
Zou, Fanggeng ;
Chai, High Seng ;
Younkin, Curtis S. ;
Miles, Richard ;
Nair, Asha A. ;
Crook, Julia E. ;
Pankratz, V. Shane ;
Carrasquillo, Minerva M. ;
Rowley, Christopher N. ;
Thuy Nguyen ;
Ma, Li ;
Malphrus, Kimberly G. ;
Bisceglio, Gina ;
Ortolaza, Alexandra I. ;
Palusak, Ryan ;
Middha, Sumit ;
Maharjan, Sooraj ;
Georgescu, Constantin ;
Schultz, Debra ;
Rakhshan, Fariborz ;
Kolbert, Christopher P. ;
Jen, Jin ;
Sando, Sigrid B. ;
Aasly, Jan O. ;
Barcikowska, Maria ;
Uitti, Ryan J. ;
Wszolek, Zbigniew K. ;
Ross, Owen A. ;
Petersen, Ronald C. ;
Graff-Radford, Neill R. ;
Dickson, Dennis W. ;
Younkin, Steven G. ;
Ertekin-Taner, Niluefer .
MOLECULAR NEURODEGENERATION, 2012, 7
[7]  
[Anonymous], 2016, SYNAPSE
[8]   NEUROPATHOLOGICAL STAGING OF ALZHEIMER-RELATED CHANGES [J].
BRAAK, H ;
BRAAK, E .
ACTA NEUROPATHOLOGICA, 1991, 82 (04) :239-259
[9]  
Carrasquillo M. M., 2016, SYNAPSE
[10]   Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease [J].
Carrasquillo, Minerva M. ;
Zou, Fanggeng ;
Pankratz, V. Shane ;
Wilcox, Samantha L. ;
Ma, Li ;
Walker, Louise P. ;
Younkin, Samuel G. ;
Younkin, Curtis S. ;
Younkin, Linda H. ;
Bisceglio, Gina D. ;
Ertekin-Taner, Nilufer ;
Crook, Julia E. ;
Dickson, Dennis W. ;
Petersen, Ronald C. ;
Graff-Radford, Neill R. ;
Younkin, Steven G. .
NATURE GENETICS, 2009, 41 (02) :192-198