CiteULike | Further Information

• {"link"=>{"url"=>"http://www.citeulike.org/user/guhjy/article/10688756"}, "post_time"=>"2012-05-20 14:50:58", "tag"=>["ckd", "genetics", "gwas", "rnai"], "linkout"=>[{"type"=>"DOI", "url"=>"http://dx.doi.org/10.1371/journal.pgen.1002584"}, {"type"=>"Pubmed Central", "url"=>"http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315455/"}, {"type"=>"Pubmed", "url"=>"http://view.ncbi.nlm.nih.gov/pubmed/22479191"}, {"type"=>"Hubmed", "url"=>"http://www.hubmed.org/display.cgi?uids=22479191"}], "username"=>"guhjy", "article_id"=>"10688756"}

Mendeley | Further Information

{"title"=>"Genome-wide association and functional follow-up reveals new loci for kidney function", "type"=>"journal", "authors"=>[{"first_name"=>"Cristian", "last_name"=>"Pattaro", "scopus_author_id"=>"56375339800"}, {"first_name"=>"Anna", "last_name"=>"Köttgen", "scopus_author_id"=>"57194234494"}, {"first_name"=>"Alexander", "last_name"=>"Teumer", "scopus_author_id"=>"24339525500"}, {"first_name"=>"Maija", "last_name"=>"Garnaas", "scopus_author_id"=>"25622602700"}, {"first_name"=>"Carsten A.", "last_name"=>"Böger", "scopus_author_id"=>"6602543444"}, {"first_name"=>"Christian", "last_name"=>"Fuchsberger", "scopus_author_id"=>"18233396000"}, {"first_name"=>"Matthias", "last_name"=>"Olden", "scopus_author_id"=>"36106144200"}, {"first_name"=>"Ming Huei", "last_name"=>"Chen", "scopus_author_id"=>"56472986500"}, {"first_name"=>"Adrienne", "last_name"=>"Tin", "scopus_author_id"=>"24342527900"}, {"first_name"=>"Daniel", "last_name"=>"Taliun", "scopus_author_id"=>"40462495600"}, 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H.Linda", "last_name"=>"Kao", "scopus_author_id"=>"32867884000"}, {"first_name"=>"Caroline S.", "last_name"=>"Fox", "scopus_author_id"=>"7402165524"}], "year"=>2012, "source"=>"PLoS Genetics", "identifiers"=>{"scopus"=>"2-s2.0-84859224378", "sgr"=>"84859224378", "issn"=>"15537390", "doi"=>"10.1371/journal.pgen.1002584", "pmid"=>"22479191", "isbn"=>"1553-7404; 1553-7390", "pui"=>"364556415"}, "id"=>"3f9fec9b-f19b-3f78-b917-1163528d02dc", "abstract"=>"Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD.", "link"=>"http://www.mendeley.com/research/genomewide-association-functional-followup-reveals-new-loci-kidney-function-15", "reader_count"=>81, "reader_count_by_academic_status"=>{"Unspecified"=>2, "Professor > Associate Professor"=>1, "Librarian"=>4, "Researcher"=>13, "Student > Doctoral Student"=>4, "Student > Ph. D. Student"=>23, "Student > Postgraduate"=>2, "Student > Master"=>13, "Other"=>5, "Student > Bachelor"=>10, "Lecturer > Senior Lecturer"=>3, "Professor"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>2, "Professor > Associate Professor"=>1, "Librarian"=>4, "Researcher"=>13, "Student > Doctoral Student"=>4, "Student > Ph. D. 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ORCID | Further Information

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Figshare

• {"files"=>["https://ndownloader.figshare.com/files/339616", "https://ndownloader.figshare.com/files/341069", "https://ndownloader.figshare.com/files/341124", "https://ndownloader.figshare.com/files/341172", "https://ndownloader.figshare.com/files/341230", "https://ndownloader.figshare.com/files/341283", "https://ndownloader.figshare.com/files/341352", "https://ndownloader.figshare.com/files/341418", "https://ndownloader.figshare.com/files/341470", "https://ndownloader.figshare.com/files/341520", "https://ndownloader.figshare.com/files/341573", "https://ndownloader.figshare.com/files/341617", "https://ndownloader.figshare.com/files/341677", "https://ndownloader.figshare.com/files/341728", "https://ndownloader.figshare.com/files/341768", "https://ndownloader.figshare.com/files/341830", "https://ndownloader.figshare.com/files/341010", "https://ndownloader.figshare.com/files/340937", "https://ndownloader.figshare.com/files/340783", "https://ndownloader.figshare.com/files/339656", "https://ndownloader.figshare.com/files/339770", "https://ndownloader.figshare.com/files/339842", "https://ndownloader.figshare.com/files/339959", "https://ndownloader.figshare.com/files/339988", "https://ndownloader.figshare.com/files/340012", "https://ndownloader.figshare.com/files/340128", "https://ndownloader.figshare.com/files/340153", "https://ndownloader.figshare.com/files/340185", "https://ndownloader.figshare.com/files/340211", "https://ndownloader.figshare.com/files/340235", "https://ndownloader.figshare.com/files/340252", "https://ndownloader.figshare.com/files/340369", "https://ndownloader.figshare.com/files/340492", "https://ndownloader.figshare.com/files/340647", "https://ndownloader.figshare.com/files/341878"], "description"=>"<div><p>Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near <em>MPPED2</em>, <em>DDX1</em>, <em>SLC47A1</em>, <em>CDK12</em>, <em>CASP9</em>, and <em>INO80</em>. Morpholino knockdown of <em>mpped2</em> and <em>casp9</em> in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD.</p> </div>", "links"=>[], "tags"=>["genome-wide", "follow-up", "reveals", "loci", "kidney"], "article_id"=>127051, "categories"=>["Genetics"], "users"=>["Cristian Pattaro", "Anna Kottgen", "Alexander Teumer", "Maija Garnaas", "Carsten A. Böger", "Christian Fuchsberger", "Matthias Olden", "Ming-Huei Chen", "Adrienne Tin", "Daniel Taliun", "Man Li", "Xiaoyi Gao", "Mathias Gorski", "Qiong Yang", "Claudia Hundertmark", "Meredith C. Foster", "Conall M. O'Seaghdha", "Nicole Glazer", "Aaron Isaacs", "Ching-Ti Liu", "Albert V. Smith", "Jeffrey R. O'Connell", "Maksim Struchalin", "Toshiko Tanaka", "Guo Li", "Andrew D. Johnson", "Hinco J. Gierman", "Mary Feitosa", "Shih-Jen Hwang", "Elizabeth J. Atkinson", "Kurt Lohman", "Marilyn C. Cornelis", "Åsa Johansson", "Anke Tönjes", "Abbas Dehghan", "Vincent Chouraki", "Elizabeth G. Holliday", "Rossella Sorice", "Zoltán Kutalik", "Terho Lehtimäki", "Tõnu Esko", "Harshal Deshmukh", "Sheila Ulivi", "Audrey Y. Chu", "Federico Murgia", "Stella Trompet", "Medea Imboden", "Barbara Kollerits", "Giorgio Pistis", "Tamara B. Harris", "Lenore J. Launer", "Thor Aspelund", "Gudny Eiriksdottir", "Braxton D. Mitchell", "Eric Boerwinkle", "Helena Schmidt", "Margherita Cavalieri", "Madhumathi Rao", "Frank B. Hu", "Ayse Demirkan", "Ben A. Oostra", "Mariza de Andrade", "Stephen T. Turner", "Jingzhong Ding", "Jeanette S. Andrews", "Barry I. Freedman", "Wolfgang Koenig", "Thomas Illig", "Angela Döring", "H.-Erich Wichmann", "Ivana Kolčić", "Tatijana Zemunik", "Mladen Boban", "Cosetta Minelli", "Heather E. Wheeler", "Wilmar Igl", "Ghazal Zaboli", "Sarah H. Wild", "Alan F. Wright", "Harry Campbell", "David Ellinghaus", "Ute Nöthlings", "Gunnar Jacobs", "Reiner Biffar", "Karlhans Endlich", "Florian Ernst", "Georg Homuth", "Heyo K. Kroemer", "Matthias Nauck", "Sylvia Stracke", "Uwe Völker", "Henry Völzke", "Peter Kovacs", "Michael Stumvoll", "Reedik Magi", "Albert Hofman", "Andre G. Uitterlinden", "Fernando Rivadeneira", "Yurii S. Aulchenko", "Ozren Polašek", "Nick Hastie", "Veronique Vitart", "Catherine Helmer", "Jie Jin Wang", "Daniela Ruggiero", "Sven Bergmann", "Mika Kähönen", "Jorma Viikari", "Tiit Nikopensius", "Michael Province", "Shamika Ketkar", "Helen Colhoun", "Alex Doney", "Antonietta Robino", "Franco Giulianini", "Bernhard K. Krämer", "Laura Portas", "Ian Ford", "Brendan M. Buckley", "Martin Adam", "Gian-Andri Thun", "Bernhard Paulweber", "Margot Haun", "Cinzia Sala", "Marie Metzger", "Paul Mitchell", "Marina Ciullo", "Stuart K. Kim", "Peter Vollenweider", "Olli Raitakari", "Andres Metspalu", "Colin Palmer", "Paolo Gasparini", "Mario Pirastu", "J. Wouter Jukema", "Nicole M. Probst-Hensch", "Florian Kronenberg", "Daniela Toniolo", "Vilmundur Gudnason", "Alan R. Shuldiner", "Josef Coresh", "Reinhold Schmidt", "Luigi Ferrucci", "David S. Siscovick", "Cornelia M. van Duijn", "Ingrid Borecki", "Sharon L. R. Kardia", "Yongmei Liu", "Gary C. Curhan", "Igor Rudan", "Ulf Gyllensten", "James F. Wilson", "Andre Franke", "Peter P. Pramstaller", "Rainer Rettig", "Inga Prokopenko", "Jacqueline C. M. Witteman", "Caroline Hayward", "Paul Ridker", "Afshin Parsa", "Murielle Bochud", "Iris M. Heid", "Wolfram Goessling", "Daniel I. Chasman", "W. H. Linda Kao", "Caroline S. Fox"], "doi"=>[nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Genome_Wide_Association_and_Functional_Follow_Up_Reveals_New_Loci_for_Kidney_Function/127051", "title"=>"Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2012-03-29 01:57:31"}
• {"files"=>["https://ndownloader.figshare.com/files/660909"], "description"=>"<p>Regional association plots in the CKDGen European ancestry discovery analysis (N = 74,354) (A) and in the CARe African ancestry discovery analysis (N = 8,110) (B). LD structure: comparison between the HapMap release II – CEU and YRI samples in the region included within +/−100 kb from the target SNP rs3925584 identified in the CKDGen GWAS. The green circle highlights a stream of high LD connecting the two blocks, indicating the presence of common haplotypes (C).</p>", "links"=>[], "tags"=>["ld", "locus", "european", "african", "ancestry"], "article_id"=>331111, "categories"=>["Genetics"], "users"=>["Cristian Pattaro", "Anna Kottgen", "Alexander Teumer", "Maija Garnaas", "Carsten A. Böger", "Christian Fuchsberger", "Matthias Olden", "Ming-Huei Chen", "Adrienne Tin", "Daniel Taliun", "Man Li", "Xiaoyi Gao", "Mathias Gorski", "Qiong Yang", "Claudia Hundertmark", "Meredith C. Foster", "Conall M. O'Seaghdha", "Nicole Glazer", "Aaron Isaacs", "Ching-Ti Liu", "Albert V. Smith", "Jeffrey R. O'Connell", "Maksim Struchalin", "Toshiko Tanaka", "Guo Li", "Andrew D. Johnson", "Hinco J. Gierman", "Mary Feitosa", "Shih-Jen Hwang", "Elizabeth J. Atkinson", "Kurt Lohman", "Marilyn C. Cornelis", "Åsa Johansson", "Anke Tönjes", "Abbas Dehghan", "Vincent Chouraki", "Elizabeth G. Holliday", "Rossella Sorice", "Zoltán Kutalik", "Terho Lehtimäki", "Tõnu Esko", "Harshal Deshmukh", "Sheila Ulivi", "Audrey Y. Chu", "Federico Murgia", "Stella Trompet", "Medea Imboden", "Barbara Kollerits", "Giorgio Pistis", "Tamara B. Harris", "Lenore J. Launer", "Thor Aspelund", "Gudny Eiriksdottir", "Braxton D. Mitchell", "Eric Boerwinkle", "Helena Schmidt", "Margherita Cavalieri", "Madhumathi Rao", "Frank B. Hu", "Ayse Demirkan", "Ben A. Oostra", "Mariza de Andrade", "Stephen T. Turner", "Jingzhong Ding", "Jeanette S. Andrews", "Barry I. Freedman", "Wolfgang Koenig", "Thomas Illig", "Angela Döring", "H.-Erich Wichmann", "Ivana Kolčić", "Tatijana Zemunik", "Mladen Boban", "Cosetta Minelli", "Heather E. Wheeler", "Wilmar Igl", "Ghazal Zaboli", "Sarah H. Wild", "Alan F. Wright", "Harry Campbell", "David Ellinghaus", "Ute Nöthlings", "Gunnar Jacobs", "Reiner Biffar", "Karlhans Endlich", "Florian Ernst", "Georg Homuth", "Heyo K. Kroemer", "Matthias Nauck", "Sylvia Stracke", "Uwe Völker", "Henry Völzke", "Peter Kovacs", "Michael Stumvoll", "Reedik Magi", "Albert Hofman", "Andre G. Uitterlinden", "Fernando Rivadeneira", "Yurii S. Aulchenko", "Ozren Polašek", "Nick Hastie", "Veronique Vitart", "Catherine Helmer", "Jie Jin Wang", "Daniela Ruggiero", "Sven Bergmann", "Mika Kähönen", "Jorma Viikari", "Tiit Nikopensius", "Michael Province", "Shamika Ketkar", "Helen Colhoun", "Alex Doney", "Antonietta Robino", "Franco Giulianini", "Bernhard K. Krämer", "Laura Portas", "Ian Ford", "Brendan M. Buckley", "Martin Adam", "Gian-Andri Thun", "Bernhard Paulweber", "Margot Haun", "Cinzia Sala", "Marie Metzger", "Paul Mitchell", "Marina Ciullo", "Stuart K. Kim", "Peter Vollenweider", "Olli Raitakari", "Andres Metspalu", "Colin Palmer", "Paolo Gasparini", "Mario Pirastu", "J. Wouter Jukema", "Nicole M. Probst-Hensch", "Florian Kronenberg", "Daniela Toniolo", "Vilmundur Gudnason", "Alan R. Shuldiner", "Josef Coresh", "Reinhold Schmidt", "Luigi Ferrucci", "David S. Siscovick", "Cornelia M. van Duijn", "Ingrid Borecki", "Sharon L. R. Kardia", "Yongmei Liu", "Gary C. Curhan", "Igor Rudan", "Ulf Gyllensten", "James F. Wilson", "Andre Franke", "Peter P. Pramstaller", "Rainer Rettig", "Inga Prokopenko", "Jacqueline C. M. Witteman", "Caroline Hayward", "Paul Ridker", "Afshin Parsa", "Murielle Bochud", "Iris M. Heid", "Wolfram Goessling", "Daniel I. Chasman", "W. H. Linda Kao", "Caroline S. Fox"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002584.g001"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Genetic_association_and_LD_distribution_of_the_MPPED2_gene_locus_in_European_and_African_ancestry_populations_/331111", "title"=>"Genetic association and LD distribution of the <i>MPPED2</i> gene locus in European and African ancestry populations.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-03-29 00:18:31"}
• {"files"=>["https://ndownloader.figshare.com/files/661302"], "description"=>"<p>(A–E) Whole mount <i>in situ</i> hybridization in control embryos demonstrates normal expression of the global kidney marker <i>pax2a</i> (A: lateral view; B: dorsal view), the glomerular marker <i>nephrin</i> (C), and the tubular markers <i>slc20a1a</i> (proximal tubule, D), and <i>slc12a3</i> (distal tubule, E) at 48 hours post fertilization (hpf). (F–J) <i>Mpped2</i> morpholino (MO) knockdown embryos develop glomerular gene expression defects (F–H, arrowheads), but tubular marker expression is normal (I, J). (K–O) <i>Casp9</i> MO knockdown embryos demonstrate reduced glomerular gene expression (K–M, arrowheads) and shortened distal tubules (O). (P) Quantification of observed abnormalities per number of embryos reveal significant differences in expression of <i>pax2a</i> and <i>nephrin</i> in response to knockdown of both <i>mpped2</i> and <i>casp9</i> (Fisher's exact test). (Q–V) Embryos were injected with control, <i>mpped2</i>, <i>or casp9</i> MO at the one-cell stage and subsequently injected with 70,000 MW fluorescent rhodamine dextran at 80 hpf. Dextran fluorescence was monitored over the next 48 hours. All dextran-injected embryos show equal loading into the cardiac sinus venosus at 2 hours post-injection (2 hpi/82 hpf; Q, S, U). Compared to control MO-injected embryos (R) and <i>mpped2</i> knockdown embryos (T), knockdown of <i>casp9</i> resulted in reduced dextran clearance at 48 hpi as shown by increased trunk fluorescence (V). (W) <i>Casp9</i> knockdown results in increased susceptibility to edema formation both spontaneously (−dex) (<i>P</i> value = 0.0234, Fisher's exact test) and after dextran challenge (+dex) (<i>P</i> value<0.0001). Embryos injected with both MO and dextran did not survive to 6 dpf (N/A). (X) Edema develops earlier and with higher frequency in <i>casp9</i> morphants following injection of the nephrotoxin gentamicin.</p>", "links"=>[], "tags"=>["knockdowns", "defective", "kidney"], "article_id"=>331535, "categories"=>["Genetics"], "users"=>["Cristian Pattaro", "Anna Kottgen", "Alexander Teumer", "Maija Garnaas", "Carsten A. Böger", "Christian Fuchsberger", "Matthias Olden", "Ming-Huei Chen", "Adrienne Tin", "Daniel Taliun", "Man Li", "Xiaoyi Gao", "Mathias Gorski", "Qiong Yang", "Claudia Hundertmark", "Meredith C. Foster", "Conall M. O'Seaghdha", "Nicole Glazer", "Aaron Isaacs", "Ching-Ti Liu", "Albert V. Smith", "Jeffrey R. O'Connell", "Maksim Struchalin", "Toshiko Tanaka", "Guo Li", "Andrew D. Johnson", "Hinco J. Gierman", "Mary Feitosa", "Shih-Jen Hwang", "Elizabeth J. Atkinson", "Kurt Lohman", "Marilyn C. Cornelis", "Åsa Johansson", "Anke Tönjes", "Abbas Dehghan", "Vincent Chouraki", "Elizabeth G. Holliday", "Rossella Sorice", "Zoltán Kutalik", "Terho Lehtimäki", "Tõnu Esko", "Harshal Deshmukh", "Sheila Ulivi", "Audrey Y. Chu", "Federico Murgia", "Stella Trompet", "Medea Imboden", "Barbara Kollerits", "Giorgio Pistis", "Tamara B. Harris", "Lenore J. Launer", "Thor Aspelund", "Gudny Eiriksdottir", "Braxton D. Mitchell", "Eric Boerwinkle", "Helena Schmidt", "Margherita Cavalieri", "Madhumathi Rao", "Frank B. Hu", "Ayse Demirkan", "Ben A. Oostra", "Mariza de Andrade", "Stephen T. Turner", "Jingzhong Ding", "Jeanette S. Andrews", "Barry I. Freedman", "Wolfgang Koenig", "Thomas Illig", "Angela Döring", "H.-Erich Wichmann", "Ivana Kolčić", "Tatijana Zemunik", "Mladen Boban", "Cosetta Minelli", "Heather E. Wheeler", "Wilmar Igl", "Ghazal Zaboli", "Sarah H. Wild", "Alan F. Wright", "Harry Campbell", "David Ellinghaus", "Ute Nöthlings", "Gunnar Jacobs", "Reiner Biffar", "Karlhans Endlich", "Florian Ernst", "Georg Homuth", "Heyo K. Kroemer", "Matthias Nauck", "Sylvia Stracke", "Uwe Völker", "Henry Völzke", "Peter Kovacs", "Michael Stumvoll", "Reedik Magi", "Albert Hofman", "Andre G. Uitterlinden", "Fernando Rivadeneira", "Yurii S. Aulchenko", "Ozren Polašek", "Nick Hastie", "Veronique Vitart", "Catherine Helmer", "Jie Jin Wang", "Daniela Ruggiero", "Sven Bergmann", "Mika Kähönen", "Jorma Viikari", "Tiit Nikopensius", "Michael Province", "Shamika Ketkar", "Helen Colhoun", "Alex Doney", "Antonietta Robino", "Franco Giulianini", "Bernhard K. Krämer", "Laura Portas", "Ian Ford", "Brendan M. Buckley", "Martin Adam", "Gian-Andri Thun", "Bernhard Paulweber", "Margot Haun", "Cinzia Sala", "Marie Metzger", "Paul Mitchell", "Marina Ciullo", "Stuart K. Kim", "Peter Vollenweider", "Olli Raitakari", "Andres Metspalu", "Colin Palmer", "Paolo Gasparini", "Mario Pirastu", "J. Wouter Jukema", "Nicole M. Probst-Hensch", "Florian Kronenberg", "Daniela Toniolo", "Vilmundur Gudnason", "Alan R. Shuldiner", "Josef Coresh", "Reinhold Schmidt", "Luigi Ferrucci", "David S. Siscovick", "Cornelia M. van Duijn", "Ingrid Borecki", "Sharon L. R. Kardia", "Yongmei Liu", "Gary C. Curhan", "Igor Rudan", "Ulf Gyllensten", "James F. Wilson", "Andre Franke", "Peter P. Pramstaller", "Rainer Rettig", "Inga Prokopenko", "Jacqueline C. M. Witteman", "Caroline Hayward", "Paul Ridker", "Afshin Parsa", "Murielle Bochud", "Iris M. Heid", "Wolfram Goessling", "Daniel I. Chasman", "W. H. Linda Kao", "Caroline S. Fox"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002584.g002"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Mpped2_and_casp9_knockdowns_result_in_defective_kidney_development_/331535", "title"=>"<i>Mpped2</i> and <i>casp9</i> knockdowns result in defective kidney development.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-03-29 00:25:35"}
• {"files"=>["https://ndownloader.figshare.com/files/661692"], "description"=>"<p>SNPs are listed in the stratum where the smallest <i>P</i> value in the discovery analysis was observed. Sample size/number of studies in the discovery phase: 74,354/26 (overall, direction test), 66,931/24 (No Diabetes), 46,435/23 (age ≤65 years); replication phase: 56,246/19 (overall, direction test), 41,218/17 (No Diabetes), 28,631/16 (age ≤65 years); combined analysis: 130,600/45 (overall, direction test), 108,149/41 (No Diabetes), 75,066/39 (age ≤65 years).</p><p>Chr.: chromosome; bp: base-pairs; Ref./Non-Ref. All.: reference/non-reference alleles; RAF: reference allele frequency; SE: standard error.</p>‡<p>Genes nearby were based on RefSeq genes (build 36). The gene closest to the SNP is listed first and is in boldface if the SNP is located within the gene.</p>§<p>Effects on log(eGFRcrea); post GWAS meta-analysis genomic control correction applied to <i>P</i> values and SEs.</p>*<p>While being uncovered in the younger samples, this locus showed consistent results in the non-diabetic group (combined-analysis <i>P</i> value 5.7×10⁻¹⁶) and in the overall population (<i>P</i> value 9.5×10⁻²²) - see <a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002584#pgen.1002584.s028\" target=\"_blank\">Tables S16</a> and <a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002584#pgen.1002584.s022\" target=\"_blank\">S10</a> for additional details.</p>**<p>The direction test was performed in the overall dataset; the genomic control corrected <i>P</i> value from the direction test for the SNP rs2928148 was 4.0×10⁻⁷. In the combined analysis, the largest effect size (0.0054 on log eGFR in ml/min/1.73 m²) and the smallest <i>P</i> value (3.7×10⁻⁸) were observed in the non-diabetic group.</p>†<p>All results were confirmed by random-effect meta-analysis.</p>", "links"=>[], "tags"=>["loci"], "article_id"=>331912, "categories"=>["Genetics"], "users"=>["Cristian Pattaro", "Anna Kottgen", "Alexander Teumer", "Maija Garnaas", "Carsten A. Böger", "Christian Fuchsberger", "Matthias Olden", "Ming-Huei Chen", "Adrienne Tin", "Daniel Taliun", "Man Li", "Xiaoyi Gao", "Mathias Gorski", "Qiong Yang", "Claudia Hundertmark", "Meredith C. Foster", "Conall M. O'Seaghdha", "Nicole Glazer", "Aaron Isaacs", "Ching-Ti Liu", "Albert V. Smith", "Jeffrey R. O'Connell", "Maksim Struchalin", "Toshiko Tanaka", "Guo Li", "Andrew D. Johnson", "Hinco J. Gierman", "Mary Feitosa", "Shih-Jen Hwang", "Elizabeth J. Atkinson", "Kurt Lohman", "Marilyn C. Cornelis", "Åsa Johansson", "Anke Tönjes", "Abbas Dehghan", "Vincent Chouraki", "Elizabeth G. Holliday", "Rossella Sorice", "Zoltán Kutalik", "Terho Lehtimäki", "Tõnu Esko", "Harshal Deshmukh", "Sheila Ulivi", "Audrey Y. Chu", "Federico Murgia", "Stella Trompet", "Medea Imboden", "Barbara Kollerits", "Giorgio Pistis", "Tamara B. Harris", "Lenore J. Launer", "Thor Aspelund", "Gudny Eiriksdottir", "Braxton D. Mitchell", "Eric Boerwinkle", "Helena Schmidt", "Margherita Cavalieri", "Madhumathi Rao", "Frank B. Hu", "Ayse Demirkan", "Ben A. Oostra", "Mariza de Andrade", "Stephen T. Turner", "Jingzhong Ding", "Jeanette S. Andrews", "Barry I. Freedman", "Wolfgang Koenig", "Thomas Illig", "Angela Döring", "H.-Erich Wichmann", "Ivana Kolčić", "Tatijana Zemunik", "Mladen Boban", "Cosetta Minelli", "Heather E. Wheeler", "Wilmar Igl", "Ghazal Zaboli", "Sarah H. Wild", "Alan F. Wright", "Harry Campbell", "David Ellinghaus", "Ute Nöthlings", "Gunnar Jacobs", "Reiner Biffar", "Karlhans Endlich", "Florian Ernst", "Georg Homuth", "Heyo K. Kroemer", "Matthias Nauck", "Sylvia Stracke", "Uwe Völker", "Henry Völzke", "Peter Kovacs", "Michael Stumvoll", "Reedik Magi", "Albert Hofman", "Andre G. Uitterlinden", "Fernando Rivadeneira", "Yurii S. Aulchenko", "Ozren Polašek", "Nick Hastie", "Veronique Vitart", "Catherine Helmer", "Jie Jin Wang", "Daniela Ruggiero", "Sven Bergmann", "Mika Kähönen", "Jorma Viikari", "Tiit Nikopensius", "Michael Province", "Shamika Ketkar", "Helen Colhoun", "Alex Doney", "Antonietta Robino", "Franco Giulianini", "Bernhard K. Krämer", "Laura Portas", "Ian Ford", "Brendan M. Buckley", "Martin Adam", "Gian-Andri Thun", "Bernhard Paulweber", "Margot Haun", "Cinzia Sala", "Marie Metzger", "Paul Mitchell", "Marina Ciullo", "Stuart K. Kim", "Peter Vollenweider", "Olli Raitakari", "Andres Metspalu", "Colin Palmer", "Paolo Gasparini", "Mario Pirastu", "J. Wouter Jukema", "Nicole M. Probst-Hensch", "Florian Kronenberg", "Daniela Toniolo", "Vilmundur Gudnason", "Alan R. Shuldiner", "Josef Coresh", "Reinhold Schmidt", "Luigi Ferrucci", "David S. Siscovick", "Cornelia M. van Duijn", "Ingrid Borecki", "Sharon L. R. Kardia", "Yongmei Liu", "Gary C. Curhan", "Igor Rudan", "Ulf Gyllensten", "James F. Wilson", "Andre Franke", "Peter P. Pramstaller", "Rainer Rettig", "Inga Prokopenko", "Jacqueline C. M. Witteman", "Caroline Hayward", "Paul Ridker", "Afshin Parsa", "Murielle Bochud", "Iris M. Heid", "Wolfram Goessling", "Daniel I. Chasman", "W. H. Linda Kao", "Caroline S. Fox"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002584.t001"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Novel_loci_associated_with_eGFRcrea_/331912", "title"=>"Novel loci associated with eGFRcrea.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2012-03-29 00:31:52"}
• {"files"=>["https://ndownloader.figshare.com/files/662005"], "description"=>"<p>Ref./Non-Ref. All.: reference/non-reference alleles; RAF: reference allele frequency; SE: standard error.</p>*<p>Characteristics of the six lead SNPs in the EA individuals from the CKDGen consortium can be found in <a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002584#pgen-1002584-t001\" target=\"_blank\">Table 1</a>.</p>§<p>The gene closest to the SNP is listed first and is in boldface if the SNP is located within the gene.</p>**<p>S = number of independent, typed SNPs interrogated.</p>†<p>No LD information available in the HapMap database between the target SNP and the best SNP in the DDX1 region.</p>‡<p>The SNP rs11078903 was not present in the CARe consortium database.</p>", "links"=>[], "tags"=>["loci", "uncovered", "european", "ancestry", "individuals", "african", "consortium"], "article_id"=>332226, "categories"=>["Genetics"], "users"=>["Cristian Pattaro", "Anna Kottgen", "Alexander Teumer", "Maija Garnaas", "Carsten A. Böger", "Christian Fuchsberger", "Matthias Olden", "Ming-Huei Chen", "Adrienne Tin", "Daniel Taliun", "Man Li", "Xiaoyi Gao", "Mathias Gorski", "Qiong Yang", "Claudia Hundertmark", "Meredith C. Foster", "Conall M. O'Seaghdha", "Nicole Glazer", "Aaron Isaacs", "Ching-Ti Liu", "Albert V. Smith", "Jeffrey R. O'Connell", "Maksim Struchalin", "Toshiko Tanaka", "Guo Li", "Andrew D. Johnson", "Hinco J. Gierman", "Mary Feitosa", "Shih-Jen Hwang", "Elizabeth J. Atkinson", "Kurt Lohman", "Marilyn C. Cornelis", "Åsa Johansson", "Anke Tönjes", "Abbas Dehghan", "Vincent Chouraki", "Elizabeth G. Holliday", "Rossella Sorice", "Zoltán Kutalik", "Terho Lehtimäki", "Tõnu Esko", "Harshal Deshmukh", "Sheila Ulivi", "Audrey Y. Chu", "Federico Murgia", "Stella Trompet", "Medea Imboden", "Barbara Kollerits", "Giorgio Pistis", "Tamara B. Harris", "Lenore J. Launer", "Thor Aspelund", "Gudny Eiriksdottir", "Braxton D. Mitchell", "Eric Boerwinkle", "Helena Schmidt", "Margherita Cavalieri", "Madhumathi Rao", "Frank B. Hu", "Ayse Demirkan", "Ben A. Oostra", "Mariza de Andrade", "Stephen T. Turner", "Jingzhong Ding", "Jeanette S. Andrews", "Barry I. Freedman", "Wolfgang Koenig", "Thomas Illig", "Angela Döring", "H.-Erich Wichmann", "Ivana Kolčić", "Tatijana Zemunik", "Mladen Boban", "Cosetta Minelli", "Heather E. Wheeler", "Wilmar Igl", "Ghazal Zaboli", "Sarah H. Wild", "Alan F. Wright", "Harry Campbell", "David Ellinghaus", "Ute Nöthlings", "Gunnar Jacobs", "Reiner Biffar", "Karlhans Endlich", "Florian Ernst", "Georg Homuth", "Heyo K. Kroemer", "Matthias Nauck", "Sylvia Stracke", "Uwe Völker", "Henry Völzke", "Peter Kovacs", "Michael Stumvoll", "Reedik Magi", "Albert Hofman", "Andre G. Uitterlinden", "Fernando Rivadeneira", "Yurii S. Aulchenko", "Ozren Polašek", "Nick Hastie", "Veronique Vitart", "Catherine Helmer", "Jie Jin Wang", "Daniela Ruggiero", "Sven Bergmann", "Mika Kähönen", "Jorma Viikari", "Tiit Nikopensius", "Michael Province", "Shamika Ketkar", "Helen Colhoun", "Alex Doney", "Antonietta Robino", "Franco Giulianini", "Bernhard K. Krämer", "Laura Portas", "Ian Ford", "Brendan M. Buckley", "Martin Adam", "Gian-Andri Thun", "Bernhard Paulweber", "Margot Haun", "Cinzia Sala", "Marie Metzger", "Paul Mitchell", "Marina Ciullo", "Stuart K. Kim", "Peter Vollenweider", "Olli Raitakari", "Andres Metspalu", "Colin Palmer", "Paolo Gasparini", "Mario Pirastu", "J. Wouter Jukema", "Nicole M. Probst-Hensch", "Florian Kronenberg", "Daniela Toniolo", "Vilmundur Gudnason", "Alan R. Shuldiner", "Josef Coresh", "Reinhold Schmidt", "Luigi Ferrucci", "David S. Siscovick", "Cornelia M. van Duijn", "Ingrid Borecki", "Sharon L. R. Kardia", "Yongmei Liu", "Gary C. Curhan", "Igor Rudan", "Ulf Gyllensten", "James F. Wilson", "Andre Franke", "Peter P. Pramstaller", "Rainer Rettig", "Inga Prokopenko", "Jacqueline C. M. Witteman", "Caroline Hayward", "Paul Ridker", "Afshin Parsa", "Murielle Bochud", "Iris M. Heid", "Wolfram Goessling", "Daniel I. Chasman", "W. H. Linda Kao", "Caroline S. Fox"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002584.t002"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Interrogation_of_the_six_novel_loci_uncovered_in_the_European_ancestry_EA_individuals_CKDGen_consortium_in_individuals_of_African_ancestry_AA_from_the_CARe_consortium_for_the_trait_eGFRcrea_/332226", "title"=>"Interrogation of the six novel loci uncovered in the European ancestry (EA) individuals (CKDGen consortium) in individuals of African ancestry (AA) from the CARe consortium for the trait eGFRcrea.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2012-03-29 00:37:06"}

PMC Usage Stats | Further Information

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Relative Metric

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F1000Prime