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{"title"=>"Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease", "type"=>"journal", "authors"=>[{"first_name"=>"John S.K.", "last_name"=>"Kauwe", "scopus_author_id"=>"57201215203"}, {"first_name"=>"Carlos", "last_name"=>"Cruchaga", "scopus_author_id"=>"8280224300"}, {"first_name"=>"Celeste M.", "last_name"=>"Karch", "scopus_author_id"=>"24460265800"}, {"first_name"=>"Brooke", "last_name"=>"Sadler", "scopus_author_id"=>"55163406800"}, {"first_name"=>"Mo", "last_name"=>"Lee", "scopus_author_id"=>"39761932800"}, {"first_name"=>"Kevin", "last_name"=>"Mayo", "scopus_author_id"=>"37026558000"}, {"first_name"=>"Wayne", "last_name"=>"Latu", "scopus_author_id"=>"36518958200"}, {"first_name"=>"Manti", "last_name"=>"Su'a", "scopus_author_id"=>"36988329400"}, {"first_name"=>"Anne M.", "last_name"=>"Fagan", "scopus_author_id"=>"7006947447"}, {"first_name"=>"David M.", "last_name"=>"Holtzman", "scopus_author_id"=>"35416882500"}, {"first_name"=>"John C.", "last_name"=>"Morris", "scopus_author_id"=>"35355376000"}, {"first_name"=>"Alison M.", "last_name"=>"Goate", "scopus_author_id"=>"7006308333"}], "year"=>2011, "source"=>"PLoS ONE", "identifiers"=>{"issn"=>"19326203", "scopus"=>"2-s2.0-79951798741", "sgr"=>"79951798741", "pui"=>"361298714", "isbn"=>"1932-6203 (Electronic)\\r1932-6203 (Linking)", "pmid"=>"21347408", "doi"=>"10.1371/journal.pone.0015918"}, "id"=>"590da316-20c6-34ce-9c83-d64332e9de44", "abstract"=>"Recent genome-wide association studies of Alzheimer's disease (AD) have identified variants in BIN1, CLU, CR1 and PICALM that show replicable association with risk for disease. We have thoroughly sampled common variation in these genes, genotyping 355 variants in over 600 individuals for whom measurements of two AD biomarkers, cerebrospinal fluid (CSF) 42 amino acid amyloid beta fragments (Aβ(42)) and tau phosphorylated at threonine 181 (ptau(181)), have been obtained. Association analyses were performed to determine whether variants in BIN1, CLU, CR1 or PICALM are associated with changes in the CSF levels of these biomarkers. Despite adequate power to detect effects as small as a 1.05 fold difference, we have failed to detect evidence for association between SNPs in these genes and CSF Aβ(42) or ptau(181) levels in our sample. Our results suggest that these variants do not affect risk via a mechanism that results in a strong additive effect on CSF levels of Aβ(42) or ptau(181).", "link"=>"http://www.mendeley.com/research/fine-mapping-genetic-variants-bin1-clu-cr1-picalm-association-cerebrospinal-fluid-biomarkers-alzheim-1", "reader_count"=>89, "reader_count_by_academic_status"=>{"Unspecified"=>5, "Professor > Associate Professor"=>10, "Researcher"=>24, "Student > Doctoral Student"=>2, "Student > Ph. D. Student"=>21, "Student > Postgraduate"=>3, "Student > Master"=>7, "Other"=>7, "Student > Bachelor"=>4, "Lecturer"=>1, "Professor"=>5}, "reader_count_by_user_role"=>{"Unspecified"=>5, "Professor > Associate Professor"=>10, "Researcher"=>24, "Student > Doctoral Student"=>2, "Student > Ph. D. Student"=>21, "Student > Postgraduate"=>3, "Student > Master"=>7, "Other"=>7, "Student > Bachelor"=>4, "Lecturer"=>1, "Professor"=>5}, "reader_count_by_subject_area"=>{"Unspecified"=>8, "Engineering"=>2, "Biochemistry, Genetics and Molecular Biology"=>5, "Mathematics"=>3, "Agricultural and Biological Sciences"=>42, "Medicine and Dentistry"=>14, "Neuroscience"=>9, "Psychology"=>1, "Chemistry"=>1, "Social Sciences"=>2, "Computer Science"=>2}, "reader_count_by_subdiscipline"=>{"Engineering"=>{"Engineering"=>2}, "Medicine and Dentistry"=>{"Medicine and Dentistry"=>14}, "Neuroscience"=>{"Neuroscience"=>9}, "Chemistry"=>{"Chemistry"=>1}, "Social Sciences"=>{"Social Sciences"=>2}, "Psychology"=>{"Psychology"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>42}, "Computer Science"=>{"Computer Science"=>2}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>5}, "Mathematics"=>{"Mathematics"=>3}, "Unspecified"=>{"Unspecified"=>8}}, "reader_count_by_country"=>{"Netherlands"=>1, "United States"=>4, "Brazil"=>2, "Mexico"=>1, "United Kingdom"=>2, "France"=>1, "Germany"=>1}, "group_count"=>3}

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• http://doi.org/10.1371/journal.pone.0106035
• http://doi.org/10.3233/JAD-170062
• http://doi.org/10.1371/journal.pone.0050976
• http://doi.org/10.1007/s40142-014-0062-6
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• http://doi.org/10.1016/j.biopsych.2012.08.015
• http://doi.org/10.1371/journal.pone.0055531

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Figshare

• {"files"=>["https://ndownloader.figshare.com/files/799507"], "description"=>"<p>Association with CSF Aβ₄₂ levels. P-values for association between the top three hits and CSF Aβ₄₂ levels in the Washington University (WU), Alzheimer's Disease Neuroimaging Initiative (ADNI) and Combined series.</p><p>*SNPs that are significant in previously reported genome-wide association studies are also shown, even when not ranked in the top three hits.</p>", "links"=>[], "tags"=>["hits", "GWAS", "snps", "csf"], "article_id"=>469860, "categories"=>["Cell Biology", "Genetics", "Neuroscience"], "users"=>["John S. K. Kauwe", "Carlos Cruchaga", "Celeste M. Karch", "Brooke Sadler", "Mo Lee", "Kevin Mayo", "Wayne Latu", "Manti Su'a", "Anne M. Fagan", "David M. Holtzman", "John C. Morris", "Alison M. Goate"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0015918.t003", "stats"=>{"downloads"=>5, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Top_hits_and_GWAS_SNPs_for_CSF_A_42_/469860", "title"=>"Top hits and GWAS SNPs for CSF Aβ₄₂.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2011-02-09 02:44:20"}
• {"files"=>["https://ndownloader.figshare.com/files/799552"], "description"=>"<p>Association with CSF ptau₁₈₁ levels. P-values for association between the top three hits and CSF ptau₁₈₁ levels in the Washington University (WU), Alzheimer's Disease Neuroimaging Initiative (ADNI) and Combined series.</p><p>*SNPs that are significant in previously reported genome-wide association studies are also shown, even when not ranked in the top three hits.</p>", "links"=>[], "tags"=>["hits", "GWAS", "snps"], "article_id"=>469910, "categories"=>["Cell Biology", "Genetics", "Neuroscience"], "users"=>["John S. K. Kauwe", "Carlos Cruchaga", "Celeste M. Karch", "Brooke Sadler", "Mo Lee", "Kevin Mayo", "Wayne Latu", "Manti Su'a", "Anne M. Fagan", "David M. Holtzman", "John C. Morris", "Alison M. Goate"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0015918.t004", "stats"=>{"downloads"=>1, "page_views"=>2, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Top_hits_and_GWAS_SNPs_for_ptau_181_/469910", "title"=>"Top hits and GWAS SNPs for ptau₁₈₁.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2011-02-09 02:45:10"}
• {"files"=>["https://ndownloader.figshare.com/files/399740", "https://ndownloader.figshare.com/files/399850"], "description"=>"<div><p>Recent genome-wide association studies of Alzheimer's disease (AD) have identified variants in <em>BIN1</em>, <em>CLU</em>, <em>CR1</em> and <em>PICALM</em> that show replicable association with risk for disease. We have thoroughly sampled common variation in these genes, genotyping 355 variants in over 600 individuals for whom measurements of two AD biomarkers, cerebrospinal fluid (CSF) 42 amino acid amyloid beta fragments (Aβ₄₂) and tau phosphorylated at threonine 181 (ptau₁₈₁), have been obtained. Association analyses were performed to determine whether variants in <em>BIN1, CLU, CR1</em> or <em>PICALM</em> are associated with changes in the CSF levels of these biomarkers. Despite adequate power to detect effects as small as a 1.05 fold difference, we have failed to detect evidence for association between SNPs in these genes and CSF Aβ₄₂ or ptau₁₈₁ levels in our sample. Our results suggest that these variants do not affect risk via a mechanism that results in a strong additive effect on CSF levels of Aβ₄₂ or ptau₁₈₁.</p> </div>", "links"=>[], "tags"=>["variants", "cerebrospinal", "biomarkers"], "article_id"=>138963, "categories"=>["Cell Biology", "Genetics", "Neuroscience"], "users"=>["John S. K. Kauwe", "Carlos Cruchaga", "Celeste M. Karch", "Brooke Sadler", "Mo Lee", "Kevin Mayo", "Wayne Latu", "Manti Su'a", "Anne M. Fagan", "David M. Holtzman", "John C. Morris", "Alison M. Goate"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0015918.s001", "https://dx.doi.org/10.1371/journal.pone.0015918.s002"], "stats"=>{"downloads"=>19, "page_views"=>11, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Fine_Mapping_of_Genetic_Variants_in_BIN1_CLU_CR1_and_PICALM_for_Association_with_Cerebrospinal_Fluid_Biomarkers_for_Alzheimer_s_Disease/138963", "title"=>"Fine Mapping of Genetic Variants in <em>BIN1</em>, <em>CLU</em>, <em>CR1</em> and <em>PICALM</em> for Association with Cerebrospinal Fluid Biomarkers for Alzheimer's Disease", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2011-02-09 02:29:23"}
• {"files"=>["https://ndownloader.figshare.com/files/799462"], "description"=>"<p>Power to detect genetic association. Power for the overall F test in a one-way, three group analysis of variance. The effect size, measured in “fold-difference” between the means at which power was estimated at 0.80 was calculated for minor allele frequencies from 0.10 to 0.50 and alpha levels of 0.05 and 0.00021.</p>", "links"=>[], "tags"=>["genetics and genomics", "pathology", "neurological disorders"], "article_id"=>469820, "categories"=>["Cell Biology", "Genetics", "Neuroscience"], "users"=>["John S. K. Kauwe", "Carlos Cruchaga", "Celeste M. Karch", "Brooke Sadler", "Mo Lee", "Kevin Mayo", "Wayne Latu", "Manti Su'a", "Anne M. Fagan", "David M. Holtzman", "John C. Morris", "Alison M. Goate"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0015918.t002", "stats"=>{"downloads"=>1, "page_views"=>3, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Power_analyses_/469820", "title"=>"Power analyses.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2011-02-09 02:43:40"}
• {"files"=>["https://ndownloader.figshare.com/files/799418"], "description"=>"<p>Sample size (N), mean and standard deviation for age in years, Clinical Dementia Ratings (CDR), the percentage of females in the sample (%female), percentage of the sample that carries at least one <i>APOE ε4</i> allele (%<i>ε4</i>pos) and the mean and standard deviation for Aβ₄₂ in pg/ml and ptau₁₈₁ in pg/ml for the complete Washington University CSF sample (WU: All), cases and controls and the complete Alzheimer's Disease Neuroimaging Initiative (ADNI: All), cases and controls are shown.</p>1<p>analyzed with Innotest ELISA (Innogenetics, Ghent, Belgium).</p>2<p>analyzed with AlzBia3 (xMAP) assay (Innogenetics, Ghent, Belgium).</p>", "links"=>[], "tags"=>["genetics and genomics", "pathology", "neurological disorders"], "article_id"=>469779, "categories"=>["Cell Biology", "Genetics", "Neuroscience"], "users"=>["John S. K. Kauwe", "Carlos Cruchaga", "Celeste M. Karch", "Brooke Sadler", "Mo Lee", "Kevin Mayo", "Wayne Latu", "Manti Su'a", "Anne M. Fagan", "David M. Holtzman", "John C. Morris", "Alison M. Goate"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0015918.t001", "stats"=>{"downloads"=>1, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Sample_characteristics_/469779", "title"=>"Sample characteristics.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2011-02-09 02:42:59"}

PMC Usage Stats | Further Information

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F1000Prime