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Author Anttila, V.; Winsvold, B.S.; Gormley, P.; Kurth, T.; Bettella, F.; McMahon, G.; Kallela, M.; Malik, R.; de Vries, B.; Terwindt, G.; Medland, S.E.; Todt, U.; McArdle, W.L.; Quaye, L.; Koiranen, M.; Ikram, M.A.; Lehtimaki, T.; Stam, A.H.; Ligthart, L.; Wedenoja, J.; Dunham, I.; Neale, B.M.; Palta, P.; Hamalainen, E.; Schurks, M.; Rose, L.M.; Buring, J.E.; Ridker, P.M.; Steinberg, S.; Stefansson, H.; Jakobsson, F.; Lawlor, D.A.; Evans, D.M.; Ring, S.M.; Farkkila, M.; Artto, V.; Kaunisto, M.A.; Freilinger, T.; Schoenen, J.; Frants, R.R.; Pelzer, N.; Weller, C.M.; Zielman, R.; Heath, A.C.; Madden, P.A.F.; Montgomery, G.W.; Martin, N.G.; Borck, G.; Gobel, H.; Heinze, A.; Heinze-Kuhn, K.; Williams, F.M.K.; Hartikainen, A.-L.; Pouta, A.; van den Ende, J.; Uitterlinden, A.G.; Hofman, A.; Amin, N.; Hottenga, J.-J.; Vink, J.M.; Heikkila, K.; Alexander, M.; Muller-Myhsok, B.; Schreiber, S.; Meitinger, T.; Wichmann, H.E.; Aromaa, A.; Eriksson, J.G.; Traynor, B.J.; Trabzuni, D.; Rossin, E.; Lage, K.; Jacobs, S.B.R.; Gibbs, J.R.; Birney, E.; Kaprio, J.; Penninx, B.W.; Boomsma, D.I.; van Duijn, C.; Raitakari, O.; Jarvelin, M.-R.; Zwart, J.-A.; Cherkas, L.; Strachan, D.P.; Kubisch, C.; Ferrari, M.D.; van den Maagdenberg, A.M.J.M.; Dichgans, M.; Wessman, M.; Smith, G.D.; Stefansson, K.; Daly, M.J.; Nyholt, D.R.; Chasman, D.I.; Palotie, A.
Title Genome-wide meta-analysis identifies new susceptibility loci for migraine Type Meta-Analysis
Year 2013 Publication Nature Genetics Abbreviated Journal Nat Genet
Volume 45 Issue 8 Pages (down) 912-917
Keywords Cerebellum/metabolism; Computational Biology; Frontal Lobe/metabolism; *Genetic Loci; *Genetic Predisposition to Disease; *Genome-Wide Association Study; Humans; Migraine Disorders/*genetics; Polymorphism, Single Nucleotide; Quantitative Trait Loci; HUNT3
Abstract Migraine is the most common brain disorder, affecting approximately 14% of the adult population, but its molecular mechanisms are poorly understood. We report the results of a meta-analysis across 29 genome-wide association studies, including a total of 23,285 individuals with migraine (cases) and 95,425 population-matched controls. We identified 12 loci associated with migraine susceptibility (P<5x10(-8)). Five loci are new: near AJAP1 at 1p36, near TSPAN2 at 1p13, within FHL5 at 6q16, within C7orf10 at 7p14 and near MMP16 at 8q21. Three of these loci were identified in disease subgroup analyses. Brain tissue expression quantitative trait locus analysis suggests potential functional candidate genes at four loci: APOA1BP, TBC1D7, FUT9, STAT6 and ATP5B.
Address Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK. anttila@atgu.mgh.harvard.edu
Corporate Author International Headache Genetics Consortium Thesis
Publisher Place of Publication Editor
Language English Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
Series Volume Series Issue Edition
ISSN 1061-4036 ISBN Medium
Area Expedition Conference
Notes PMID:23793025 Approved no
Call Number HUNT @ maria.stuifbergen @ Serial 1341
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Author Liu, J.Z.; Hov, J.R.; Folseraas, T.; Ellinghaus, E.; Rushbrook, S.M.; Doncheva, N.T.; Andreassen, O.A.; Weersma, R.K.; Weismuller, T.J.; Eksteen, B.; Invernizzi, P.; Hirschfield, G.M.; Gotthardt, D.N.; Pares, A.; Ellinghaus, D.; Shah, T.; Juran, B.D.; Milkiewicz, P.; Rust, C.; Schramm, C.; Muller, T.; Srivastava, B.; Dalekos, G.; Nothen, M.M.; Herms, S.; Winkelmann, J.; Mitrovic, M.; Braun, F.; Ponsioen, C.Y.; Croucher, P.J.P.; Sterneck, M.; Teufel, A.; Mason, A.L.; Saarela, J.; Leppa, V.; Dorfman, R.; Alvaro, D.; Floreani, A.; Onengut-Gumuscu, S.; Rich, S.S.; Thompson, W.K.; Schork, A.J.; Naess, S.; Thomsen, I.; Mayr, G.; Konig, I.R.; Hveem, K.; Cleynen, I.; Gutierrez-Achury, J.; Ricano-Ponce, I.; van Heel, D.; Bjornsson, E.; Sandford, R.N.; Durie, P.R.; Melum, E.; Vatn, M.H.; Silverberg, M.S.; Duerr, R.H.; Padyukov, L.; Brand, S.; Sans, M.; Annese, V.; Achkar, J.-P.; Boberg, K.M.; Marschall, H.-U.; Chazouilleres, O.; Bowlus, C.L.; Wijmenga, C.; Schrumpf, E.; Vermeire, S.; Albrecht, M.; Rioux, J.D.; Alexander, G.; Bergquist, A.; Cho, J.; Schreiber, S.; Manns, M.P.; Farkkila, M.; Dale, A.M.; Chapman, R.W.; Lazaridis, K.N.; Franke, A.; Anderson, C.A.; Karlsen, T.H.
Title Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis Type Journal Article
Year 2013 Publication Nature Genetics Abbreviated Journal Nat Genet
Volume 45 Issue 6 Pages (down) 670-675
Keywords Case-Control Studies; Cholangitis, Sclerosing/*genetics/immunology; Gene Frequency; Genetic Loci/immunology; Genetic Pleiotropy; Genome-Wide Association Study; Genotyping Techniques; Humans; Linkage Disequilibrium; Oligonucleotide Array Sequence Analysis; Polymorphism, Single Nucleotide; Risk Factors
Abstract Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation. We compared 3,789 PSC cases of European ancestry to 25,079 population controls across 130,422 SNPs genotyped using the Immunochip. We identified 12 genome-wide significant associations outside the human leukocyte antigen (HLA) complex, 9 of which were new, increasing the number of known PSC risk loci to 16. Despite comorbidity with inflammatory bowel disease (IBD) in 72% of the cases, 6 of the 12 loci showed significantly stronger association with PSC than with IBD, suggesting overlapping yet distinct genetic architectures for these two diseases. We incorporated association statistics from 7 diseases clinically occurring with PSC in the analysis and found suggestive evidence for 33 additional pleiotropic PSC risk loci. Together with network analyses, these findings add to the genetic risk map of PSC and expand on the relationship between PSC and other immune-mediated diseases.
Address Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
Corporate Author International PSC Study Group Thesis
Publisher Place of Publication Editor
Language English Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
Series Volume Series Issue Edition
ISSN 1061-4036 ISBN Medium
Area Expedition Conference
Notes PMID:23603763; PMC3667736 Approved no
Call Number HUNT @ maria.stuifbergen @ Serial 1427
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Author Purdue, M.P.; Johansson, M.; Zelenika, D.; Toro, J.R.; Scelo, G.; Moore, L.E.; Prokhortchouk, E.; Wu, X.; Kiemeney, L.A.; Gaborieau, V.; Jacobs, K.B.; Chow, W.-H.; Zaridze, D.; Matveev, V.; Lubinski, J.; Trubicka, J.; Szeszenia-Dabrowska, N.; Lissowska, J.; Rudnai, P.; Fabianova, E.; Bucur, A.; Bencko, V.; Foretova, L.; Janout, V.; Boffetta, P.; Colt, J.S.; Davis, F.G.; Schwartz, K.L.; Banks, R.E.; Selby, P.J.; Harnden, P.; Berg, C.D.; Hsing, A.W.; Grubb, R.L. 3rd; Boeing, H.; Vineis, P.; Clavel-Chapelon, F.; Palli, D.; Tumino, R.; Krogh, V.; Panico, S.; Duell, E.J.; Quiros, J.R.; Sanchez, M.-J.; Navarro, C.; Ardanaz, E.; Dorronsoro, M.; Khaw, K.-T.; Allen, N.E.; Bueno-de-Mesquita, H.B.; Peeters, P.H.M.; Trichopoulos, D.; Linseisen, J.; Ljungberg, B.; Overvad, K.; Tjonneland, A.; Romieu, I.; Riboli, E.; Mukeria, A.; Shangina, O.; Stevens, V.L.; Thun, M.J.; Diver, W.R.; Gapstur, S.M.; Pharoah, P.D.; Easton, D.F.; Albanes, D.; Weinstein, S.J.; Virtamo, J.; Vatten, L.; Hveem, K.; Njolstad, I.; Tell, G.S.; Stoltenberg, C.; Kumar, R.; Koppova, K.; Cussenot, O.; Benhamou, S.; Oosterwijk, E.; Vermeulen, S.H.; Aben, K.K.H.; van der Marel, S.L.; Ye, Y.; Wood, C.G.; Pu, X.; Mazur, A.M.; Boulygina, E.S.; Chekanov, N.N.; Foglio, M.; Lechner, D.; Gut, I.; Heath, S.; Blanche, H.; Hutchinson, A.; Thomas, G.; Wang, Z.; Yeager, M.; Fraumeni, J.F.J.; Skryabin, K.G.; McKay, J.D.; Rothman, N.; Chanock, S.J.; Lathrop, M.; Brennan, P.
Title Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3 Type Journal Article
Year 2011 Publication Nature Genetics Abbreviated Journal Nat Genet
Volume 43 Issue 1 Pages (down) 60-65
Keywords HUNT2; Carcinoma, Renal Cell/*genetics; Case-Control Studies; Chromosomes, Human, Pair 11/*genetics; Chromosomes, Human, Pair 2/*genetics; *Genetic Predisposition to Disease/genetics; Genome, Human; *Genome-Wide Association Study; Humans; Kidney Neoplasms/*genetics; Polymorphism, Single Nucleotide; Risk Factors
Abstract We conducted a two-stage genome-wide association study of renal cell carcinoma (RCC) in 3,772 affected individuals (cases) and 8,505 controls of European background from 11 studies and followed up 6 SNPs in 3 replication studies of 2,198 cases and 4,918 controls. Two loci on the regions of 2p21 and 11q13.3 were associated with RCC susceptibility below genome-wide significance. Two correlated variants (r(2) = 0.99 in controls), rs11894252 (P = 1.8 x 10(-)(8)) and rs7579899 (P = 2.3 x 10(-)(9)), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. The second locus, rs7105934, at 11q13.3, contains no characterized genes (P = 7.8 x 10(-)(1)(4)). In addition, we observed a promising association on 12q24.31 for rs4765623, which maps to SCARB1, the scavenger receptor class B, member 1 gene (P = 2.6 x 10(-)(8)). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights.
Address Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department Health and Human Services, Bethesda, Maryland, USA
Corporate Author Thesis
Publisher Place of Publication Editor
Language English Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
Series Volume Series Issue Edition
ISSN 1061-4036 ISBN Medium
Area Expedition Conference
Notes PMID:21131975; PMC3049257 Approved no
Call Number HUNT @ maria.stuifbergen @ Serial 1697
Permanent link to this record
 

 
Author Berndt, S.I.; Gustafsson, S.; Magi, R.; Ganna, A.; Wheeler, E.; Feitosa, M.F.; Justice, A.E.; Monda, K.L.; Croteau-Chonka, D.C.; Day, F.R.; Esko, T.; Fall, T.; Ferreira, T.; Gentilini, D.; Jackson, A.U.; Luan, J.'an; Randall, J.C.; Vedantam, S.; Willer, C.J.; Winkler, T.W.; Wood, A.R.; Workalemahu, T.; Hu, Y.-J.; Lee, S.H.; Liang, L.; Lin, D.-Y.; Min, J.L.; Neale, B.M.; Thorleifsson, G.; Yang, J.; Albrecht, E.; Amin, N.; Bragg-Gresham, J.L.; Cadby, G.; den Heijer, M.; Eklund, N.; Fischer, K.; Goel, A.; Hottenga, J.-J.; Huffman, J.E.; Jarick, I.; Johansson, A.; Johnson, T.; Kanoni, S.; Kleber, M.E.; Konig, I.R.; Kristiansson, K.; Kutalik, Z.; Lamina, C.; Lecoeur, C.; Li, G.; Mangino, M.; McArdle, W.L.; Medina-Gomez, C.; Muller-Nurasyid, M.; Ngwa, J.S.; Nolte, I.M.; Paternoster, L.; Pechlivanis, S.; Perola, M.; Peters, M.J.; Preuss, M.; Rose, L.M.; Shi, J.; Shungin, D.; Smith, A.V.; Strawbridge, R.J.; Surakka, I.; Teumer, A.; Trip, M.D.; Tyrer, J.; Van Vliet-Ostaptchouk, J.V.; Vandenput, L.; Waite, L.L.; Zhao, J.H.; Absher, D.; Asselbergs, F.W.; Atalay, M.; Attwood, A.P.; Balmforth, A.J.; Basart, H.; Beilby, J.; Bonnycastle, L.L.; Brambilla, P.; Bruinenberg, M.; Campbell, H.; Chasman, D.I.; Chines, P.S.; Collins, F.S.; Connell, J.M.; Cookson, W.O.; de Faire, U.; de Vegt, F.; Dei, M.; Dimitriou, M.; Edkins, S.; Estrada, K.; Evans, D.M.; Farrall, M.; Ferrario, M.M.; Ferrieres, J.; Franke, L.; Frau, F.; Gejman, P.V.; Grallert, H.; Gronberg, H.; Gudnason, V.; Hall, A.S.; Hall, P.; Hartikainen, A.-L.; Hayward, C.; Heard-Costa, N.L.; Heath, A.C.; Hebebrand, J.; Homuth, G.; Hu, F.B.; Hunt, S.E.; Hypponen, E.; Iribarren, C.; Jacobs, K.B.; Jansson, J.-O.; Jula, A.; Kahonen, M.; Kathiresan, S.; Kee, F.; Khaw, K.-T.; Kivimaki, M.; Koenig, W.; Kraja, A.T.; Kumari, M.; Kuulasmaa, K.; Kuusisto, J.; Laitinen, J.H.; Lakka, T.A.; Langenberg, C.; Launer, L.J.; Lind, L.; Lindstrom, J.; Liu, J.; Liuzzi, A.; Lokki, M.-L.; Lorentzon, M.; Madden, P.A.; Magnusson, P.K.; Manunta, P.; Marek, D.; Marz, W.; Mateo Leach, I.; McKnight, B.; Medland, S.E.; Mihailov, E.; Milani, L.; Montgomery, G.W.; Mooser, V.; Muhleisen, T.W.; Munroe, P.B.; Musk, A.W.; Narisu, N.; Navis, G.; Nicholson, G.; Nohr, E.A.; Ong, K.K.; Oostra, B.A.; Palmer, C.N.A.; Palotie, A.; Peden, J.F.; Pedersen, N.; Peters, A.; Polasek, O.; Pouta, A.; Pramstaller, P.P.; Prokopenko, I.; Putter, C.; Radhakrishnan, A.; Raitakari, O.; Rendon, A.; Rivadeneira, F.; Rudan, I.; Saaristo, T.E.; Sambrook, J.G.; Sanders, A.R.; Sanna, S.; Saramies, J.; Schipf, S.; Schreiber, S.; Schunkert, H.; Shin, S.-Y.; Signorini, S.; Sinisalo, J.; Skrobek, B.; Soranzo, N.; Stancakova, A.; Stark, K.; Stephens, J.C.; Stirrups, K.; Stolk, R.P.; Stumvoll, M.; Swift, A.J.; Theodoraki, E.V.; Thorand, B.; Tregouet, D.-A.; Tremoli, E.; Van der Klauw, M.M.; van Meurs, J.B.J.; Vermeulen, S.H.; Viikari, J.; Virtamo, J.; Vitart, V.; Waeber, G.; Wang, Z.; Widen, E.; Wild, S.H.; Willemsen, G.; Winkelmann, B.R.; Witteman, J.C.M.; Wolffenbuttel, B.H.R.; Wong, A.; Wright, A.F.; Zillikens, M.C.; Amouyel, P.; Boehm, B.O.; Boerwinkle, E.; Boomsma, D.I.; Caulfield, M.J.; Chanock, S.J.; Cupples, L.A.; Cusi, D.; Dedoussis, G.V.; Erdmann, J.; Eriksson, J.G.; Franks, P.W.; Froguel, P.; Gieger, C.; Gyllensten, U.; Hamsten, A.; Harris, T.B.; Hengstenberg, C.; Hicks, A.A.; Hingorani, A.; Hinney, A.; Hofman, A.; Hovingh, K.G.; Hveem, K.; Illig, T.; Jarvelin, M.-R.; Jockel, K.-H.; Keinanen-Kiukaanniemi, S.M.; Kiemeney, L.A.; Kuh, D.; Laakso, M.; Lehtimaki, T.; Levinson, D.F.; Martin, N.G.; Metspalu, A.; Morris, A.D.; Nieminen, M.S.; Njolstad, I.; Ohlsson, C.; Oldehinkel, A.J.; Ouwehand, W.H.; Palmer, L.J.; Penninx, B.; Power, C.; Province, M.A.; Psaty, B.M.; Qi, L.; Rauramaa, R.; Ridker, P.M.; Ripatti, S.; Salomaa, V.; Samani, N.J.; Snieder, H.; Sorensen, T.I.A.; Spector, T.D.; Stefansson, K.; Tonjes, A.; Tuomilehto, J.; Uitterlinden, A.G.; Uusitupa, M.; van der Harst, P.; Vollenweider, P.; Wallaschofski, H.; Wareham, N.J.; Watkins, H.; Wichmann, H.-E.; Wilson, J.F.; Abecasis, G.R.; Assimes, T.L.; Barroso, I.; Boehnke, M.; Borecki, I.B.; Deloukas, P.; Fox, C.S.; Frayling, T.; Groop, L.C.; Haritunian, T.; Heid, I.M.; Hunter, D.; Kaplan, R.C.; Karpe, F.; Moffatt, M.F.; Mohlke, K.L.; O'Connell, J.R.; Pawitan, Y.; Schadt, E.E.; Schlessinger, D.; Steinthorsdottir, V.; Strachan, D.P.; Thorsteinsdottir, U.; van Duijn, C.M.; Visscher, P.M.; Di Blasio, A.M.; Hirschhorn, J.N.; Lindgren, C.M.; Morris, A.P.; Meyre, D.; Scherag, A.; McCarthy, M.I.; Speliotes, E.K.; North, K.E.; Loos, R.J.F.; Ingelsson, E.
Title Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture Type Journal Article
Year 2013 Publication Nature Genetics Abbreviated Journal Nat Genet
Volume 45 Issue 5 Pages (down) 501-512
Keywords *Anthropometry; Body Height/*genetics; Body Mass Index; Case-Control Studies; European Continental Ancestry Group/genetics; *Genetic Predisposition to Disease; *Genome-Wide Association Study; Genotype; Humans; Meta-Analysis as Topic; Obesity/*genetics; Phenotype; Polymorphism, Single Nucleotide/*genetics; *Quantitative Trait Loci; Waist-Hip Ratio
Abstract Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
Address US Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA
Corporate Author Thesis
Publisher Place of Publication Editor
Language English Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
Series Volume Series Issue Edition
ISSN 1061-4036 ISBN Medium
Area Expedition Conference
Notes PMID:23563607 Approved no
Call Number HUNT @ maria.stuifbergen @ Serial 1466
Permanent link to this record
 

 
Author Holmen, O.L.; Zhang, H.; Fan, Y.; Hovelson, D.H.; Schmidt, E.M.; Zhou, W.; Guo, Y.; Zhang, J.; Langhammer, A.; Lochen, M.-L.; Ganesh, S.K.; Vatten, L.; Skorpen, F.; Dalen, H.; Zhang, J.; Pennathur, S.; Chen, J.; Platou, C.; Mathiesen, E.B.; Wilsgaard, T.; Njolstad, I.; Boehnke, M.; Chen, Y.E.; Abecasis, G.R.; Hveem, K.; Willer, C.J.
Title Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk Type Journal Article
Year 2014 Publication Nature Genetics Abbreviated Journal Nat Genet
Volume 46 Issue 4 Pages (down) 345-351
Keywords Animals; Cholesterol, LDL/blood/genetics; Exome/genetics; Gene Knockdown Techniques; *Genetic Variation; Genome-Wide Association Study; Genotype; Humans; Lipids/*blood/genetics; Membrane Proteins/*genetics; Mice; Mice, Inbred C57BL; Mutation, Missense/genetics; Myocardial Infarction/*epidemiology/*genetics; Norway/epidemiology; Risk Factors
Abstract Blood lipid levels are heritable, treatable risk factors for cardiovascular disease. We systematically assessed genome-wide coding variation to identify new genes influencing lipid traits, fine map known lipid loci and evaluate whether low-frequency variants with large effects exist for these traits. Using an exome array, we genotyped 80,137 coding variants in 5,643 Norwegians. We followed up 18 variants in 4,666 Norwegians and identified ten loci with coding variants associated with a lipid trait (P < 5 x 10(-8)). One variant in TM6SF2 (encoding p.Glu167Lys), residing in a known genome-wide association study locus for lipid traits, influences total cholesterol levels and is associated with myocardial infarction. Transient TM6SF2 overexpression or knockdown of Tm6sf2 in mice alters serum lipid profiles, consistent with the association observed in humans, identifying TM6SF2 as a functional gene within a locus previously known as NCAN-CILP2-PBX4 or 19p13. This study demonstrates that systematic assessment of coding variation can quickly point to a candidate causal gene.
Address 1] Department of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, Michigan, USA. [2] Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA. [3] Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
Corporate Author Thesis
Publisher Place of Publication Editor
Language English Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
Series Volume Series Issue Edition
ISSN 1061-4036 ISBN Medium
Area Expedition Conference
Notes PMID:24633158 Approved no
Call Number HUNT @ maria.stuifbergen @ Serial 1597
Permanent link to this record
 

 
Author Liu, D.J.; Peloso, G.M.; Zhan, X.; Holmen, O.L.; Zawistowski, M.; Feng, S.; Nikpay, M.; Auer, P.L.; Goel, A.; Zhang, H.; Peters, U.; Farrall, M.; Orho-Melander, M.; Kooperberg, C.; McPherson, R.; Watkins, H.; Willer, C.J.; Hveem, K.; Melander, O.; Kathiresan, S.; Abecasis, G.R.
Title Meta-analysis of gene-level tests for rare variant association Type Journal Article
Year 2014 Publication Nature Genetics Abbreviated Journal Nat Genet
Volume 46 Issue 2 Pages (down) 200-204
Keywords Data Interpretation, Statistical; Exome/genetics; Genetic Association Studies/*methods; *Genetic Variation; Genetics, Population; Genotype; Humans; Lipids/blood/*genetics; *Meta-Analysis as Topic; Models, Genetic; Monte Carlo Method; *Research Design
Abstract The majority of reported complex disease associations for common genetic variants have been identified through meta-analysis, a powerful approach that enables the use of large sample sizes while protecting against common artifacts due to population structure and repeated small-sample analyses sharing individual-level data. As the focus of genetic association studies shifts to rare variants, genes and other functional units are becoming the focus of analysis. Here we propose and evaluate new approaches for performing meta-analysis of rare variant association tests, including burden tests, weighted burden tests, variable-threshold tests and tests that allow variants with opposite effects to be grouped together. We show that our approach retains useful features from single-variant meta-analysis approaches and demonstrate its use in a study of blood lipid levels in approximately 18,500 individuals genotyped with exome arrays.
Address 1] Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan, USA. [2]
Corporate Author Thesis
Publisher Place of Publication Editor
Language English Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
Series Volume Series Issue Edition
ISSN 1061-4036 ISBN Medium
Area Expedition Conference
Notes PMID:24336170; PMC3939031 Approved no
Call Number HUNT @ maria.stuifbergen @ Serial 1600
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Author Liu, D.J.; Peloso, G.M.; Yu, H.; Butterworth, A.S.; Wang, X.; Mahajan, A.; Saleheen, D.; Emdin, C.; Alam, D.; Alves, A.C.; Amouyel, P.; Di Angelantonio, E.; Arveiler, D.; Assimes, T.L.; Auer, P.L.; Baber, U.; Ballantyne, C.M.; Bang, L.E.; Benn, M.; Bis, J.C.; Boehnke, M.; Boerwinkle, E.; Bork-Jensen, J.; Bottinger, E.P.; Brandslund, I.; Brown, M.; Busonero, F.; Caulfield, M.J.; Chambers, J.C.; Chasman, D.I.; Chen, Y.E.; Chen, Y.-D.I.; Chowdhury, R.; Christensen, C.; Chu, A.Y.; Connell, J.M.; Cucca, F.; Cupples, L.A.; Damrauer, S.M.; Davies, G.; Deary, I.J.; Dedoussis, G.; Denny, J.C.; Dominiczak, A.; Dube, M.-P.; Ebeling, T.; Eiriksdottir, G.; Esko, T.; Farmaki, A.-E.; Feitosa, M.F.; Ferrario, M.; Ferrieres, J.; Ford, I.; Fornage, M.; Franks, P.W.; Frayling, T.M.; Frikke-Schmidt, R.; Fritsche, L.G.; Frossard, P.; Fuster, V.; Ganesh, S.K.; Gao, W.; Garcia, M.E.; Gieger, C.; Giulianini, F.; Goodarzi, M.O.; Grallert, H.; Grarup, N.; Groop, L.; Grove, M.L.; Gudnason, V.; Hansen, T.; Harris, T.B.; Hayward, C.; Hirschhorn, J.N.; Holmen, O.L.; Huffman, J.; Huo, Y.; Hveem, K.; Jabeen, S.; Jackson, A.U.; Jakobsdottir, J.; Jarvelin, M.-R.; Jensen, G.B.; Jorgensen, M.E.; Jukema, J.W.; Justesen, J.M.; Kamstrup, P.R.; Kanoni, S.; Karpe, F.; Kee, F.; Khera, A.V.; Klarin, D.; Koistinen, H.A.; Kooner, J.S.; Kooperberg, C.; Kuulasmaa, K.; Kuusisto, J.; Laakso, M.; Lakka, T.; Langenberg, C.; Langsted, A.; Launer, L.J.; Lauritzen, T.; Liewald, D.C.M.; Lin, L.A.; Linneberg, A.; Loos, R.J.F.; Lu, Y.; Lu, X.; Magi, R.; Malarstig, A.; Manichaikul, A.; Manning, A.K.; Mantyselka, P.; Marouli, E.; Masca, N.G.D.; Maschio, A.; Meigs, J.B.; Melander, O.; Metspalu, A.; Morris, A.P.; Morrison, A.C.; Mulas, A.; Muller-Nurasyid, M.; Munroe, P.B.; Neville, M.J.; Nielsen, J.B.; Nielsen, S.F.; Nordestgaard, B.G.; Ordovas, J.M.; Mehran, R.; O'Donnell, C.J.; Orho-Melander, M.; Molony, C.M.; Muntendam, P.; Padmanabhan, S.; Palmer, C.N.A.; Pasko, D.; Patel, A.P.; Pedersen, O.; Perola, M.; Peters, A.; Pisinger, C.; Pistis, G.; Polasek, O.; Poulter, N.; Psaty, B.M.; Rader, D.J.; Rasheed, A.; Rauramaa, R.; Reilly, D.F.; Reiner, A.P.; Renstrom, F.; Rich, S.S.; Ridker, P.M.; Rioux, J.D.; Robertson, N.R.; Roden, D.M.; Rotter, J.I.; Rudan, I.; Salomaa, V.; Samani, N.J.; Sanna, S.; Sattar, N.; Schmidt, E.M.; Scott, R.A.; Sever, P.; Sevilla, R.S.; Shaffer, C.M.; Sim, X.; Sivapalaratnam, S.; Small, K.S.; Smith, A.V.; Smith, B.H.; Somayajula, S.; Southam, L.; Spector, T.D.; Speliotes, E.K.; Starr, J.M.; Stirrups, K.E.; Stitziel, N.; Strauch, K.; Stringham, H.M.; Surendran, P.; Tada, H.; Tall, A.R.; Tang, H.; Tardif, J.-C.; Taylor, K.D.; Trompet, S.; Tsao, P.S.; Tuomilehto, J.; Tybjaerg-Hansen, A.; van Zuydam, N.R.; Varbo, A.; Varga, T.V.; Virtamo, J.; Waldenberger, M.; Wang, N.; Wareham, N.J.; Warren, H.R.; Weeke, P.E.; Weinstock, J.; Wessel, J.; Wilson, J.G.; Wilson, P.W.F.; Xu, M.; Yaghootkar, H.; Young, R.; Zeggini, E.; Zhang, H.; Zheng, N.S.; Zhang, W.; Zhang, Y.; Zhou, W.; Zhou, Y.; Zoledziewska, M.; Howson, J.M.M.; Danesh, J.; McCarthy, M.I.; Cowan, C.A.; Abecasis, G.; Deloukas, P.; Musunuru, K.; Willer, C.J.; Kathiresan, S.
Title Exome-wide association study of plasma lipids in >300,000 individuals Type Journal Article
Year 2017 Publication Nature Genetics Abbreviated Journal Nat Genet
Volume 49 Issue 12 Pages (down) 1758-1766
Keywords Coronary Artery Disease/blood/genetics; Diabetes Mellitus, Type 2/blood/genetics; Exome/*genetics; Genetic Association Studies/*methods; Genetic Predisposition to Disease/genetics; *Genetic Variation; Genotype; Humans; Lipids/*blood; Macular Degeneration/blood/genetics; Phenotype; Risk Factors
Abstract We screened variants on an exome-focused genotyping array in >300,000 participants (replication in >280,000 participants) and identified 444 independent variants in 250 loci significantly associated with total cholesterol (TC), high-density-lipoprotein cholesterol (HDL-C), low-density-lipoprotein cholesterol (LDL-C), and/or triglycerides (TG). At two loci (JAK2 and A1CF), experimental analysis in mice showed lipid changes consistent with the human data. We also found that: (i) beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease (CAD); (ii) excluding the CETP locus, there was not a predictable relationship between plasma HDL-C and risk for age-related macular degeneration; (iii) only some mechanisms of lowering LDL-C appeared to increase risk for type 2 diabetes (T2D); and (iv) TG-lowering alleles involved in hepatic production of TG-rich lipoproteins (TM6SF2 and PNPLA3) tracked with higher liver fat, higher risk for T2D, and lower risk for CAD, whereas TG-lowering alleles involved in peripheral lipolysis (LPL and ANGPTL4) had no effect on liver fat but decreased risks for both T2D and CAD.
Address Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA
Corporate Author VA Million Veteran Program Thesis
Publisher Place of Publication Editor
Language English Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
Series Volume Series Issue Edition
ISSN 1061-4036 ISBN Medium
Area Expedition Conference
Notes PMID:29083408; PMCID:PMC5709146 Approved no
Call Number HUNT @ maria.stuifbergen @ Serial 1943
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Author Ferreira, M.A.; Vonk, J.M.; Baurecht, H.; Marenholz, I.; Tian, C.; Hoffman, J.D.; Helmer, Q.; Tillander, A.; Ullemar, V.; van Dongen, J.; Lu, Y.; Ruschendorf, F.; Esparza-Gordillo, J.; Medway, C.W.; Mountjoy, E.; Burrows, K.; Hummel, O.; Grosche, S.; Brumpton, B.M.; Witte, J.S.; Hottenga, J.-J.; Willemsen, G.; Zheng, J.; Rodriguez, E.; Hotze, M.; Franke, A.; Revez, J.A.; Beesley, J.; Matheson, M.C.; Dharmage, S.C.; Bain, L.M.; Fritsche, L.G.; Gabrielsen, M.E.; Balliu, B.; Nielsen, J.B.; Zhou, W.; Hveem, K.; Langhammer, A.; Holmen, O.L.; Loset, M.; Abecasis, G.R.; Willer, C.J.; Arnold, A.; Homuth, G.; Schmidt, C.O.; Thompson, P.J.; Martin, N.G.; Duffy, D.L.; Novak, N.; Schulz, H.; Karrasch, S.; Gieger, C.; Strauch, K.; Melles, R.B.; Hinds, D.A.; Hubner, N.; Weidinger, S.; Magnusson, P.K.E.; Jansen, R.; Jorgenson, E.; Lee, Y.-A.; Boomsma, D.I.; Almqvist, C.; Karlsson, R.; Koppelman, G.H.; Paternoster, L.
Title Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology Type Meta-Analysis
Year 2017 Publication Nature Genetics Abbreviated Journal Nat Genet
Volume 49 Issue 12 Pages (down) 1752-1757
Keywords Asthma/*genetics; Eczema/*genetics; Genetic Predisposition to Disease/*genetics; Genome-Wide Association Study/methods; Humans; Hypersensitivity/*genetics; Phenotype; Polymorphism, Single Nucleotide; Rhinitis, Allergic, Seasonal/*genetics; Risk Factors
Abstract Asthma, hay fever (or allergic rhinitis) and eczema (or atopic dermatitis) often coexist in the same individuals, partly because of a shared genetic origin. To identify shared risk variants, we performed a genome-wide association study (GWAS; n = 360,838) of a broad allergic disease phenotype that considers the presence of any one of these three diseases. We identified 136 independent risk variants (P < 3 x 10(-8)), including 73 not previously reported, which implicate 132 nearby genes in allergic disease pathophysiology. Disease-specific effects were detected for only six variants, confirming that most represent shared risk factors. Tissue-specific heritability and biological process enrichment analyses suggest that shared risk variants influence lymphocyte-mediated immunity. Six target genes provide an opportunity for drug repositioning, while for 36 genes CpG methylation was found to influence transcription independently of genetic effects. Asthma, hay fever and eczema partly coexist because they share many genetic risk variants that dysregulate the expression of immune-related genes.
Address MRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol, UK
Corporate Author LifeLines Cohort Study Thesis
Publisher Place of Publication Editor
Language English Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
Series Volume Series Issue Edition
ISSN 1061-4036 ISBN Medium
Area Expedition Conference
Notes PMID:29083406 Approved no
Call Number HUNT @ maria.stuifbergen @ Serial 1903
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Author Lu, X.; Peloso, G.M.; Liu, D.J.; Wu, Y.; Zhang, H.; Zhou, W.; Li, J.; Tang, C.S.-M.; Dorajoo, R.; Li, H.; Long, J.; Guo, X.; Xu, M.; Spracklen, C.N.; Chen, Y.; Liu, X.; Zhang, Y.; Khor, C.C.; Liu, J.; Sun, L.; Wang, L.; Gao, Y.-T.; Hu, Y.; Yu, K.; Wang, Y.; Cheung, C.Y.Y.; Wang, F.; Huang, J.; Fan, Q.; Cai, Q.; Chen, S.; Shi, J.; Yang, X.; Zhao, W.; Sheu, W.H.-H.; Cherny, S.S.; He, M.; Feranil, A.B.; Adair, L.S.; Gordon-Larsen, P.; Du, S.; Varma, R.; Chen, Y.-D.I.; Shu, X.-O.; Lam, K.S.L.; Wong, T.Y.; Ganesh, S.K.; Mo, Z.; Hveem, K.; Fritsche, L.G.; Nielsen, J.B.; Tse, H.-F.; Huo, Y.; Cheng, C.-Y.; Chen, Y.E.; Zheng, W.; Tai, E.S.; Gao, W.; Lin, X.; Huang, W.; Abecasis, G.; Kathiresan, S.; Mohlke, K.L.; Wu, T.; Sham, P.C.; Gu, D.; Willer, C.J.
Title Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease Type Meta-Analysis
Year 2017 Publication Nature Genetics Abbreviated Journal Nat Genet
Volume 49 Issue 12 Pages (down) 1722-1730
Keywords Asian Continental Ancestry Group/genetics; Coronary Artery Disease/ethnology/*genetics; Europe; European Continental Ancestry Group/genetics; Exome/*genetics; Far East; Gene Frequency; Genetic Predisposition to Disease/ethnology/*genetics; *Genetic Variation; Genome-Wide Association Study; Genotype; Humans; Lipid Metabolism/*genetics; Lipids/analysis
Abstract Most genome-wide association studies have been of European individuals, even though most genetic variation in humans is seen only in non-European samples. To search for novel loci associated with blood lipid levels and clarify the mechanism of action at previously identified lipid loci, we used an exome array to examine protein-coding genetic variants in 47,532 East Asian individuals. We identified 255 variants at 41 loci that reached chip-wide significance, including 3 novel loci and 14 East Asian-specific coding variant associations. After a meta-analysis including >300,000 European samples, we identified an additional nine novel loci. Sixteen genes were identified by protein-altering variants in both East Asians and Europeans, and thus are likely to be functional genes. Our data demonstrate that most of the low-frequency or rare coding variants associated with lipids are population specific, and that examining genomic data across diverse ancestries may facilitate the identification of functional genes at associated loci.
Address Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA
Corporate Author GLGC Consortium Thesis
Publisher Place of Publication Editor
Language English Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
Series Volume Series Issue Edition
ISSN 1061-4036 ISBN Medium
Area Expedition Conference
Notes PMID:29083407 Approved no
Call Number HUNT @ maria.stuifbergen @ Serial 1957
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Author Zhou, W.; Nielsen, J.B.; Fritsche, L.G.; Dey, R.; Gabrielsen, M.E.; Wolford, B.N.; LeFaive, J.; VandeHaar, P.; Gagliano, S.A.; Gifford, A.; Bastarache, L.A.; Wei, W.-Q.; Denny, J.C.; Lin, M.; Hveem, K.; Kang, H.M.; Abecasis, G.R.; Willer, C.J.; Lee, S.
Title Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies Type Journal Article
Year 2018 Publication Nature Genetics Abbreviated Journal Nat Genet
Volume 50 Issue 9 Pages (down) 1335-1341
Keywords
Abstract In genome-wide association studies (GWAS) for thousands of phenotypes in large biobanks, most binary traits have substantially fewer cases than controls. Both of the widely used approaches, the linear mixed model and the recently proposed logistic mixed model, perform poorly; they produce large type I error rates when used to analyze unbalanced case-control phenotypes. Here we propose a scalable and accurate generalized mixed model association test that uses the saddlepoint approximation to calibrate the distribution of score test statistics. This method, SAIGE (Scalable and Accurate Implementation of GEneralized mixed model), provides accurate P values even when case-control ratios are extremely unbalanced. SAIGE uses state-of-art optimization strategies to reduce computational costs; hence, it is applicable to GWAS for thousands of phenotypes by large biobanks. Through the analysis of UK Biobank data of 408,961 samples from white British participants with European ancestry for > 1,400 binary phenotypes, we show that SAIGE can efficiently analyze large sample data, controlling for unbalanced case-control ratios and sample relatedness.
Address Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA. leeshawn@umich.edu
Corporate Author Thesis
Publisher Place of Publication Editor
Language English Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
Series Volume Series Issue Edition
ISSN 1061-4036 ISBN Medium
Area Expedition Conference
Notes PMID:30104761; PMCID:PMC6119127 Approved no
Call Number HUNT @ maria.stuifbergen @ Serial 2192
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Author Nielsen, J.B.; Thorolfsdottir, R.B.; Fritsche, L.G.; Zhou, W.; Skov, M.W.; Graham, S.E.; Herron, T.J.; McCarthy, S.; Schmidt, E.M.; Sveinbjornsson, G.; Surakka, I.; Mathis, M.R.; Yamazaki, M.; Crawford, R.D.; Gabrielsen, M.E.; Skogholt, A.H.; Holmen, O.L.; Lin, M.; Wolford, B.N.; Dey, R.; Dalen, H.; Sulem, P.; Chung, J.H.; Backman, J.D.; Arnar, D.O.; Thorsteinsdottir, U.; Baras, A.; O'Dushlaine, C.; Holst, A.G.; Wen, X.; Hornsby, W.; Dewey, F.E.; Boehnke, M.; Kheterpal, S.; Mukherjee, B.; Lee, S.; Kang, H.M.; Holm, H.; Kitzman, J.; Shavit, J.A.; Jalife, J.; Brummett, C.M.; Teslovich, T.M.; Carey, D.J.; Gudbjartsson, D.F.; Stefansson, K.; Abecasis, G.R.; Hveem, K.; Willer, C.J.
Title Biobank-driven genomic discovery yields new insight into atrial fibrillation biology Type Journal Article
Year 2018 Publication Nature Genetics Abbreviated Journal Nat Genet
Volume 50 Issue 9 Pages (down) 1234-1239
Keywords
Abstract To identify genetic variation underlying atrial fibrillation, the most common cardiac arrhythmia, we performed a genome-wide association study of >1,000,000 people, including 60,620 atrial fibrillation cases and 970,216 controls. We identified 142 independent risk variants at 111 loci and prioritized 151 functional candidate genes likely to be involved in atrial fibrillation. Many of the identified risk variants fall near genes where more deleterious mutations have been reported to cause serious heart defects in humans (GATA4, MYH6, NKX2-5, PITX2, TBX5)(1), or near genes important for striated muscle function and integrity (for example, CFL2, MYH7, PKP2, RBM20, SGCG, SSPN). Pathway and functional enrichment analyses also suggested that many of the putative atrial fibrillation genes act via cardiac structural remodeling, potentially in the form of an 'atrial cardiomyopathy'(2), either during fetal heart development or as a response to stress in the adult heart.
Address Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA. cristen@umich.edu
Corporate Author Thesis
Publisher Place of Publication Editor
Language English Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
Series Volume Series Issue Edition
ISSN 1061-4036 ISBN Medium
Area Expedition Conference
Notes PMID:30061737 Approved no
Call Number HUNT @ maria.stuifbergen @ Serial 2144
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Author Wood, A.R.; Esko, T.; Yang, J.; Vedantam, S.; Pers, T.H.; Gustafsson, S.; Chu, A.Y.; Estrada, K.; Luan, J.'an; Kutalik, Z.; Amin, N.; Buchkovich, M.L.; Croteau-Chonka, D.C.; Day, F.R.; Duan, Y.; Fall, T.; Fehrmann, R.; Ferreira, T.; Jackson, A.U.; Karjalainen, J.; Lo, K.S.; Locke, A.E.; Magi, R.; Mihailov, E.; Porcu, E.; Randall, J.C.; Scherag, A.; Vinkhuyzen, A.A.E.; Westra, H.-J.; Winkler, T.W.; Workalemahu, T.; Zhao, J.H.; Absher, D.; Albrecht, E.; Anderson, D.; Baron, J.; Beekman, M.; Demirkan, A.; Ehret, G.B.; Feenstra, B.; Feitosa, M.F.; Fischer, K.; Fraser, R.M.; Goel, A.; Gong, J.; Justice, A.E.; Kanoni, S.; Kleber, M.E.; Kristiansson, K.; Lim, U.; Lotay, V.; Lui, J.C.; Mangino, M.; Mateo Leach, I.; Medina-Gomez, C.; Nalls, M.A.; Nyholt, D.R.; Palmer, C.D.; Pasko, D.; Pechlivanis, S.; Prokopenko, I.; Ried, J.S.; Ripke, S.; Shungin, D.; Stancakova, A.; Strawbridge, R.J.; Sung, Y.J.; Tanaka, T.; Teumer, A.; Trompet, S.; van der Laan, S.W.; van Setten, J.; Van Vliet-Ostaptchouk, J.V.; Wang, Z.; Yengo, L.; Zhang, W.; Afzal, U.; Arnlov, J.; Arscott, G.M.; Bandinelli, S.; Barrett, A.; Bellis, C.; Bennett, A.J.; Berne, C.; Bluher, M.; Bolton, J.L.; Bottcher, Y.; Boyd, H.A.; Bruinenberg, M.; Buckley, B.M.; Buyske, S.; Caspersen, I.H.; Chines, P.S.; Clarke, R.; Claudi-Boehm, S.; Cooper, M.; Daw, E.W.; De Jong, P.A.; Deelen, J.; Delgado, G.; Denny, J.C.; Dhonukshe-Rutten, R.; Dimitriou, M.; Doney, A.S.F.; Dorr, M.; Eklund, N.; Eury, E.; Folkersen, L.; Garcia, M.E.; Geller, F.; Giedraitis, V.; Go, A.S.; Grallert, H.; Grammer, T.B.; Grassler, J.; Gronberg, H.; de Groot, L.C.P.G.M.; Groves, C.J.; Haessler, J.; Hall, P.; Haller, T.; Hallmans, G.; Hannemann, A.; Hartman, C.A.; Hassinen, M.; Hayward, C.; Heard-Costa, N.L.; Helmer, Q.; Hemani, G.; Henders, A.K.; Hillege, H.L.; Hlatky, M.A.; Hoffmann, W.; Hoffmann, P.; Holmen, O.; Houwing-Duistermaat, J.J.; Illig, T.; Isaacs, A.; James, A.L.; Jeff, J.; Johansen, B.; Johansson, A.; Jolley, J.; Juliusdottir, T.; Junttila, J.; Kho, A.N.; Kinnunen, L.; Klopp, N.; Kocher, T.; Kratzer, W.; Lichtner, P.; Lind, L.; Lindstrom, J.; Lobbens, S.; Lorentzon, M.; Lu, Y.; Lyssenko, V.; Magnusson, P.K.E.; Mahajan, A.; Maillard, M.; McArdle, W.L.; McKenzie, C.A.; McLachlan, S.; McLaren, P.J.; Menni, C.; Merger, S.; Milani, L.; Moayyeri, A.; Monda, K.L.; Morken, M.A.; Muller, G.; Muller-Nurasyid, M.; Musk, A.W.; Narisu, N.; Nauck, M.; Nolte, I.M.; Nothen, M.M.; Oozageer, L.; Pilz, S.; Rayner, N.W.; Renstrom, F.; Robertson, N.R.; Rose, L.M.; Roussel, R.; Sanna, S.; Scharnagl, H.; Scholtens, S.; Schumacher, F.R.; Schunkert, H.; Scott, R.A.; Sehmi, J.; Seufferlein, T.; Shi, J.; Silventoinen, K.; Smit, J.H.; Smith, A.V.; Smolonska, J.; Stanton, A.V.; Stirrups, K.; Stott, D.J.; Stringham, H.M.; Sundstrom, J.; Swertz, M.A.; Syvanen, A.-C.; Tayo, B.O.; Thorleifsson, G.; Tyrer, J.P.; van Dijk, S.; van Schoor, N.M.; van der Velde, N.; van Heemst, D.; van Oort, F.V.A.; Vermeulen, S.H.; Verweij, N.; Vonk, J.M.; Waite, L.L.; Waldenberger, M.; Wennauer, R.; Wilkens, L.R.; Willenborg, C.; Wilsgaard, T.; Wojczynski, M.K.; Wong, A.; Wright, A.F.; Zhang, Q.; Arveiler, D.; Bakker, S.J.L.; Beilby, J.; Bergman, R.N.; Bergmann, S.; Biffar, R.; Blangero, J.; Boomsma, D.I.; Bornstein, S.R.; Bovet, P.; Brambilla, P.; Brown, M.J.; Campbell, H.; Caulfield, M.J.; Chakravarti, A.; Collins, R.; Collins, F.S.; Crawford, D.C.; Cupples, L.A.; Danesh, J.; de Faire, U.; den Ruijter, H.M.; Erbel, R.; Erdmann, J.; Eriksson, J.G.; Farrall, M.; Ferrannini, E.; Ferrieres, J.; Ford, I.; Forouhi, N.G.; Forrester, T.; Gansevoort, R.T.; Gejman, P.V.; Gieger, C.; Golay, A.; Gottesman, O.; Gudnason, V.; Gyllensten, U.; Haas, D.W.; Hall, A.S.; Harris, T.B.; Hattersley, A.T.; Heath, A.C.; Hengstenberg, C.; Hicks, A.A.; Hindorff, L.A.; Hingorani, A.D.; Hofman, A.; Hovingh, G.K.; Humphries, S.E.; Hunt, S.C.; Hypponen, E.; Jacobs, K.B.; Jarvelin, M.-R.; Jousilahti, P.; Jula, A.M.; Kaprio, J.; Kastelein, J.J.P.; Kayser, M.; Kee, F.; Keinanen-Kiukaanniemi, S.M.; Kiemeney, L.A.; Kooner, J.S.; Kooperberg, C.; Koskinen, S.; Kovacs, P.; Kraja, A.T.; Kumari, M.; Kuusisto, J.; Lakka, T.A.; Langenberg, C.; Le Marchand, L.; Lehtimaki, T.; Lupoli, S.; Madden, P.A.F.; Mannisto, S.; Manunta, P.; Marette, A.; Matise, T.C.; McKnight, B.; Meitinger, T.; Moll, F.L.; Montgomery, G.W.; Morris, A.D.; Morris, A.P.; Murray, J.C.; Nelis, M.; Ohlsson, C.; Oldehinkel, A.J.; Ong, K.K.; Ouwehand, W.H.; Pasterkamp, G.; Peters, A.; Pramstaller, P.P.; Price, J.F.; Qi, L.; Raitakari, O.T.; Rankinen, T.; Rao, D.C.; Rice, T.K.; Ritchie, M.; Rudan, I.; Salomaa, V.; Samani, N.J.; Saramies, J.; Sarzynski, M.A.; Schwarz, P.E.H.; Sebert, S.; Sever, P.; Shuldiner, A.R.; Sinisalo, J.; Steinthorsdottir, V.; Stolk, R.P.; Tardif, J.-C.; Tonjes, A.; Tremblay, A.; Tremoli, E.; Virtamo, J.; Vohl, M.-C.; Amouyel, P.; Asselbergs, F.W.; Assimes, T.L.; Bochud, M.; Boehm, B.O.; Boerwinkle, E.; Bottinger, E.P.; Bouchard, C.; Cauchi, S.; Chambers, J.C.; Chanock, S.J.; Cooper, R.S.; de Bakker, P.I.W.; Dedoussis, G.; Ferrucci, L.; Franks, P.W.; Froguel, P.; Groop, L.C.; Haiman, C.A.; Hamsten, A.; Hayes, M.G.; Hui, J.; Hunter, D.J.; Hveem, K.; Jukema, J.W.; Kaplan, R.C.; Kivimaki, M.; Kuh, D.; Laakso, M.; Liu, Y.; Martin, N.G.; Marz, W.; Melbye, M.; Moebus, S.; Munroe, P.B.; Njolstad, I.; Oostra, B.A.; Palmer, C.N.A.; Pedersen, N.L.; Perola, M.; Perusse, L.; Peters, U.; Powell, J.E.; Power, C.; Quertermous, T.; Rauramaa, R.; Reinmaa, E.; Ridker, P.M.; Rivadeneira, F.; Rotter, J.I.; Saaristo, T.E.; Saleheen, D.; Schlessinger, D.; Slagboom, P.E.; Snieder, H.; Spector, T.D.; Strauch, K.; Stumvoll, M.; Tuomilehto, J.; Uusitupa, M.; van der Harst, P.; Volzke, H.; Walker, M.; Wareham, N.J.; Watkins, H.; Wichmann, H.-E.; Wilson, J.F.; Zanen, P.; Deloukas, P.; Heid, I.M.; Lindgren, C.M.; Mohlke, K.L.; Speliotes, E.K.; Thorsteinsdottir, U.; Barroso, I.; Fox, C.S.; North, K.E.; Strachan, D.P.; Beckmann, J.S.; Berndt, S.I.; Boehnke, M.; Borecki, I.B.; McCarthy, M.I.; Metspalu, A.; Stefansson, K.; Uitterlinden, A.G.; van Duijn, C.M.; Franke, L.; Willer, C.J.; Price, A.L.; Lettre, G.; Loos, R.J.F.; Weedon, M.N.; Ingelsson, E.; O'Connell, J.R.; Abecasis, G.R.; Chasman, D.I.; Goddard, M.E.; Visscher, P.M.; Hirschhorn, J.N.; Frayling, T.M.
Title Defining the role of common variation in the genomic and biological architecture of adult human height Type Meta-Analysis
Year 2014 Publication Nature Genetics Abbreviated Journal Nat Genet
Volume 46 Issue 11 Pages (down) 1173-1186
Keywords HUNT3; Adult; Analysis of Variance; Body Height/*genetics; European Continental Ancestry Group/*genetics; Genetic Variation/*genetics; Genetics, Population; Genome-Wide Association Study/methods; Humans; Oligonucleotide Array Sequence Analysis; Polymorphism, Single Nucleotide/*genetics
Abstract Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated approximately 2,000, approximately 3,700 and approximately 9,500 SNPs explained approximately 21%, approximately 24% and approximately 29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/beta-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.
Address Genetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, UK
Corporate Author LifeLines Cohort Study Thesis
Publisher Place of Publication Editor
Language English Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
Series Volume Series Issue Edition
ISSN 1061-4036 ISBN Medium
Area Expedition Conference
Notes PMID:25282103; PMC4250049 Approved no
Call Number HUNT @ maria.stuifbergen @ Serial 1664
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Author Yeager M, Chatterjee N, Ciampa J et al
Title Identification of a new prstatae cancer sysceptibility locus on shromosome 8q24 Type Journal Article
Year 2009 Publication Nature Genetics 2009 Abbreviated Journal
Volume 41 Issue Pages (down) 1055-7
Keywords HUNT2
Abstract
Address
Corporate Author Thesis
Publisher Place of Publication Editor
Language Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
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ISSN ISBN Medium
Area Expedition Conference
Notes HUNT_ID:997. HUNT2 Approved no
Call Number Serial 965
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Author Thomas G, Jacobs KB, Kraft P et al
Title A multistage genom-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1) Type Journal Article
Year 2009 Publication Nature Genetics 2009 Abbreviated Journal
Volume 41 Issue Pages (down) 579-84
Keywords HUNT2
Abstract
Address
Corporate Author Thesis
Publisher Place of Publication Editor
Language Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
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Area Expedition Conference
Notes HUNT_ID:998. HUNT2 Approved no
Call Number Serial 966
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Author Ahmed S, Thomas G, Ghoussaini M et al
Title Newly discovered breast cancer susceptiblity loci on 3p24 and 17q23.2 Type Journal Article
Year 2009 Publication Nature Genetics 2009 Abbreviated Journal
Volume 41 Issue Pages (down) 585-90
Keywords HUNT2
Abstract
Address
Corporate Author Thesis
Publisher Place of Publication Editor
Language Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
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Area Expedition Conference
Notes HUNT_ID:999. HUNT2 Approved no
Call Number Serial 967
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Author McKey JD, Hung RJ, Gaborieau V et al
Title Lung cancer sysceptibility locus at 5p15.33 Type Journal Article
Year 2008 Publication Nature Genetics 2008 Abbreviated Journal
Volume 40 Issue Pages (down) 1404-6
Keywords HUNT2
Abstract
Address
Corporate Author Thesis
Publisher Place of Publication Editor
Language Summary Language Original Title
Series Editor Series Title Abbreviated Series Title
Series Volume Series Issue Edition
ISSN ISBN Medium
Area Expedition Conference
Notes HUNT_ID:1000. HUNT2 Approved no
Call Number Serial 968
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