Now showing items 244-263 of 422

    • A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila 

      Allebrandt KV; Amin N; Müller-Myhsok B; Esko T; Teder-Laving M; Azevedo RV; Hayward C; van Mill J; Vogelzangs N; Green EW; Melville SA; Lichtner P; Wichmann HE; Oostra BA; Janssens AC; Campbell H; Wilson JF; Hicks AA; Pramstaller PP; Dogas Z; Rudan I; Merrow M; Penninx B; Kyriacou CP; Metspalu A; van Duijn CM; Meitinger T; Roenneberg T (2013)
      Humans sleep approximately a third of their lifetime. The observation that individuals with either long or short sleep duration show associations with metabolic syndrome and psychiatric disorders suggests that the length ...
    • Ketoamide resistance and hepatitis C virus fitness in val55 variants of the NS3 serine protease 

      Welsch C; Schweizer S; Shimakami T; Domingues FS; Kim S; Lemon SM; Antes I (2012)
      Drug-resistant viral variants are a major issue in the use of direct-acting antiviral agents in chronic hepatitis C. Ketoamides are potent inhibitors of the NS3 protease, with V55A identified as mutation associated with ...
    • Lack of replication in polymorphisms reported to be associated with atrial fibrillation 

      Sinner MF; Lubitz SA; Pfeufer A; Makino S; Beckmann BM; Lunetta KL; Steinbeck G; Perz S; Rahman R; Sonni A; Greenberg SM; Furie KL; Wichmann HE; Meitinger T; Peters A; Benjamin EJ; Rosand J; Ellinor PT; Kääb S (2011)
      BACKGROUND: Atrial fibrillation (AF) is the most common sustained arrhythmia and has a substantial heritable component. Numerous associations between single nucleotide polymorphisms (SNPs) and AF have been described, but ...
    • Large-scale assessment of polyglutamine repeat expansions in Parkinson disease 

      Wang L; Aasly JO; Annesi G; Bardien S; Bozi M; Brice A; Carr J; Chung SJ; Clarke C; Crosiers D; Deutschländer A; Eckstein G; Farrer MJ; Goldwurm S; Garraux G; Hadjigeorgiou GM; Hicks AA; Hattori N; Klein C; Jeon B; Kim YJ; Lesage S; Lin JJ; Lynch T; Lichtner P; Lang AE; Mok V; Jasinska-Myga B; Mellick GD; Morrison KE; Opala G; Pihlstrøm L; Pramstaller PP; Park SS; Quattrone A; Rogaeva E; Ross OA; Stefanis L; Stockton JD; Silburn PA; Theuns J; Tan EK; Tomiyama H; Toft M; Van Broeckhoven C; Uitti RJ; Wirdefeldt K; Wszolek Z; Xiromerisiou G; Yueh KC; Zhao Y; Gasser T; Maraganore DM; Krüger R; Sharma M; GEO-PD Consortium (2015)
      OBJECTIVES: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). METHODS: We invited researchers from the ...
    • Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways 

      Scott RA; Lagou V; Welch RP; Wheeler E; Montasser ME; Luan J; Mägi R; Strawbridge RJ; Rehnberg E; Gustafsson S; Kanoni S; Rasmussen-Torvik LJ; Yengo L; Lecoeur C; Shungin D; Sanna S; Sidore C; Johnson PC; Jukema JW; Johnson T; Mahajan A; Verweij N; Thorleifsson G; Hottenga JJ; Shah S; Smith AV; Sennblad B; Gieger C; Salo P; Perola M; Timpson NJ; Evans DM; Pourcain BS; Wu Y; Andrews JS; Hui J; Bielak LF; Zhao W; Horikoshi M; Navarro P; Isaacs A; O'Connell JR; Stirrups K; Vitart V; Hayward C; Esko T; Mihailov E; Fraser RM; Fall T; Voight BF; Raychaudhuri S; Chen H; Lindgren CM; Morris AP; Rayner NW; Robertson N; Rybin D; Liu CT; Beckmann JS; Willems SM; Chines PS; Jackson AU; Kang HM; Stringham HM; Song K; Tanaka T; Peden JF; Goel A; Hicks AA; An P; Müller-Nurasyid M; Franco-Cereceda A; Folkersen L; Marullo L; Jansen H; Oldehinkel AJ; Bruinenberg M; Pankow JS; North KE; Forouhi NG; Loos RJ; Edkins S; Varga TV; Hallmans G; Oksa H; Antonella M; Nagaraja R; Trompet S; Ford I; Bakker SJ; Kong A; Kumari M; Gigante B; Herder C; Munroe PB; Caulfield M; Antti J; Mangino M; Small K; Miljkovic I; Liu Y; Atalay M; Kiess W; James AL; Rivadeneira F; Uitterlinden AG; Palmer CN; Doney AS; Willemsen G; Smit JH; Campbell S; Polasek O; Bonnycastle LL; Hercberg S; Dimitriou M; Bolton JL; Fowkes GR; Kovacs P; Lindström J; Zemunik T; Bandinelli S; Wild SH; Basart HV; Rathmann W; Grallert H; DIAGRAM Consortium; Maerz W; Kleber ME; Boehm BO; Peters A; Pramstaller PP; Province MA; Borecki IB; Hastie ND; Rudan I; Campbell H; Watkins H; Farrall M; Stumvoll M; Ferrucci L; Waterworth DM; Bergman RN; Collins FS; Tuomilehto J; Watanabe RM; de Geus EJ; Penninx BW; Hofman A; Oostra BA; Psaty BM; Vollenweider P; Wilson JF; Wright AF; Hovingh GK; Metspalu A; Uusitupa M; Magnusson PK; Kyvik KO; Kaprio J; Price JF; Dedoussis GV; Deloukas P; Meneton P; Lind L; Boehnke M; Shuldiner AR; van Duijn CM; Morris AD; Toenjes A; Peyser PA; Beilby JP; Körner A; Kuusisto J; Laakso M; Bornstein SR; Schwarz PE; Lakka TA; Rauramaa R; Adair LS; Smith GD; Spector TD; Illig T; de Faire U; Hamsten A; Gudnason V; Kivimaki M; Hingorani A; Keinanen-Kiukaanniemi SM; Saaristo TE; Boomsma DI; Stefansson K; van der Harst P; Dupuis J; Pedersen NL; Sattar N; Harris TB; Cucca F; Ripatti S; Salomaa V; Mohlke KL; Balkau B; Froguel P; Pouta A; Jarvelin MR; Wareham NJ; Bouatia-Naji N; McCarthy MI; Franks PW; Meigs JB; Teslovich TM; Florez JC; Langenberg C; Ingelsson E; Prokopenko I; Barroso I (2012)
      Through genome-wide association meta-analyses of up to 133,010 individuals of European ancestry without diabetes, including individuals newly genotyped using the Metabochip, we have increased the number of confirmed loci ...
    • Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function 

      Wild PS; Felix JF; Schillert A; Teumer A; Chen MH; Leening MJG; Völker U; Großmann V; Brody JA; Irvin MR; Shah SJ; Pramana S; Lieb W; Schmidt R; Stanton AV; Malzahn D; Smith AV; Sundström J; Minelli C; Ruggiero D; Lyytikäinen LP; Tiller D; Smith JG; Monnereau C; Di Tullio MR; Musani SK; Morrison AC; Pers TH; Morley M; Kleber ME; Aragam J; Benjamin EJ; Bis JC; Bisping E; Broeckel U; Cheng S; Deckers JW; Del Greco M F; Edelmann F; Fornage M; Franke L; Friedrich N; Harris TB; Hofer E; Hofman A; Huang J; Hughes AD; Kähönen M; Investigators K; Kruppa J; Lackner KJ; Lannfelt L; Laskowski R; Launer LJ; Leosdottir M; Lin H; Lindgren CM; Loley C; MacRae CA; Mascalzoni D; Mayet J; Medenwald D; Morris AP; Müller C; Müller-Nurasyid M; Nappo S; Nilsson PM; Nuding S; Nutile T; Peters A; Pfeufer A; Pietzner D; Pramstaller PP; Raitakari OT; Rice KM; Rivadeneira F; Rotter JI; Ruohonen ST; Sacco RL; Samdarshi TE; Schmidt H; Sharp ASP; Shields DC; Sorice R; Sotoodehnia N; Stricker BH; Surendran P; Thom S; Töglhofer AM; Uitterlinden AG; Wachter R; Völzke H; Ziegler A; Münzel T; März W; Cappola TP; Hirschhorn JN; Mitchell GF; Smith NL; Fox ER; Dueker ND; Jaddoe VWV; Melander O; Russ M; Lehtimäki T; Ciullo M; Hicks AA; Lind L; Gudnason V; Pieske B; Barron AJ; Zweiker R; Schunkert H; Ingelsson E; Liu K; Arnett DK; Psaty BM; Blankenberg S; Larson MG; Felix SB; Franco OH; Zeller T; Vasan RS; Dörr M (2017)
      BACKGROUND: Understanding the genetic architecture of cardiac structure and function may help to prevent and treat heart disease. This investigation sought to identify common genetic variations associated with inter-individual ...
    • Large-scale replication and heterogeneity in Parkinson disease genetic loci 

      Sharma M; Ioannidis JP; Aasly JO; Annesi G; Brice A; Van Broeckhoven C; Bertram L; Bozi M; Crosiers D; Clarke C; Facheris M; Farrer M; Garraux G; Gispert S; Auburger G; Vilariño-Güell C; Hadjigeorgiou GM; Hicks AA; Hattori N; Jeon B; Lesage S; Lill CM; Lin JJ; Lynch T; Lichtner P; Lang AE; Mok V; Jasinska-Myga B; Mellick GD; Morrison KE; Opala G; Pramstaller PP; Pichler I; Park SS; Quattrone A; Rogaeva E; Ross OA; Stefanis L; Stockton JD; Satake W; Silburn PA; Theuns J; Tan EK; Toda T; Tomiyama H; Uitti RJ; Wirdefeldt K; Wszolek Z; Xiromerisiou G; Yueh KC; Zhao Y; Gasser T; Maraganore D; Krüger R; GEO-PD Consortium (2012)
      OBJECTIVE: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which ...
    • Legal issues in governing genetic biobanks: the Italian framework as a case study for the implications for citizen's health through public-private initiatives 

      Piciocchi C; Ducato R; Martinelli L; Perra S; Tomasi M; Zuddas C; Mascalzoni D (2017)
      This paper outlines some of the challenges faced by regulation of genetic biobanking, using case studies coming from the Italian legal system. The governance of genetic resources in the context of genetic biobanks in Italy ...
    • Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms 

      Claussnitzer M; Dankel SN; Klocke B; Grallert H; Glunk V; Berulava T; Lee H; Oskolkov N; Fadista J; Ehlers K; Wahl S; Hoffmann C; Qian K; Rönn T; Riess H; Müller-Nurasyid M; Bretschneider N; Schroeder T; Skurk T; Horsthemke B; DIAGRAM Consortium; Spieler D; Klingenspor M; Seifert M; Kern MJ; Mejhert N; Dahlman I; Hansson O; Hauck SM; Blüher M; Arner P; Groop L; Illig T; Suhre K; Hsu YH; Mellgren G; Hauner H; Laumen H (2014)
      Genome-wide association studies have revealed numerous risk loci associated with diverse diseases. However, identification of disease-causing variants within association loci remains a major challenge. Divergence in gene ...
    • Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers 

      Pramstaller PP; Schlossmacher MG; Jacques TS; Scaravilli F; Eskelson C; Pepivani I; Hedrich K; Adel S; Gonzales-McNeal M; Hilker R; Kramer PL; Klein C (2005)
      We report the clinical, genetic, and neuropathological findings of a seven generation-spanning pedigree with 196 individuals, 25 of whom had levodopa-responsive parkinsonism. Genetic analyses indicated Parkin mutations in ...
    • The Lin28/let-7 axis regulates glucose metabolism 

      Zhu H; Shyh-Chang N; Segrè AV; Shinoda G; Shah SP; Einhorn WS; Takeuchi A; Engreitz JM; Hagan JP; Kharas MG; Urbach A; Thornton JE; Triboulet R; Gregory RI; DIAGRAM Consortium; MAGIC Investigators; Altshuler D; Daley GQ (2011)
      The let-7 tumor suppressor microRNAs are known for their regulation of oncogenes, while the RNA-binding proteins Lin28a/b promote malignancy by inhibiting let-7 biogenesis. We have uncovered unexpected roles for the ...
    • Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate 

      Pichler I; Marroni F; Volpato CB; Gusella JF; Klein C; Casari G; De Grandi A; Pramstaller PP (2006)
      Restless legs syndrome (RLS) is a common neurological condition with three loci (12q, 14q, and 9p) described so far, although none of these genes has yet been identified. We report a genomewide linkage scan of patients ...
    • Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27 

      Volpato CB; De Grandi A; Gögele M; Taliun D; Fuchsberger C; Facheris MF; Minelli C; Pattaro C; Pramstaller PP; Hicks AA (2011)
      BACKGROUND: Thyroid hormones have important roles in growth, development and control of metabolism, and their dysregulation can lead to disease. OBJECTIVES: To identify genes contributing to hyperthyrotropinaemia. DESIGN, ...
    • Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene 

      Johansson A; Marroni F; Hayward C; Franklin CS; Kirichenko AV; Jonasson I; Hicks AA; Vitart V; Isaacs A; Axenovich T; Campbell S; Floyd J; Hastie N; Knott S; Lauc G; Pichler I; Rotim K; Wild SH; Zorkoltseva IV; Wilson JF; Rudan I; Campbell H; Pattaro C; Pramstaller P; Oostra BA; Wright AF; van Duijn CM; Aulchenko YS; Gyllensten U; EUROSPAN Consortium (2010)
      As major risk-factors for diabetes and cardiovascular diseases, the genetic contribution to obesity-related traits has been of interest for decades. Recently, a limited number of common genetic variants, which have replicated ...
    • Linkage disequilibrium patterns and tagSNP transferability among European populations 

      Mueller JC; Lõhmussaar E; Mägi R; Remm M; Bettecken T; Lichtner P; Biskup S; Illig T; Pfeufer A; Luedemann J; Schreiber S; Pramstaller P; Pichler I; Romeo G; Gaddi A; Testa A; Wichmann HE; Metspalu A; Meitinger T (2005)
      The pattern of linkage disequilibrium (LD) is critical for association studies, in which disease-causing variants are identified by allelic association with adjacent markers. The aim of this study is to compare the LD ...
    • Lipidomics, Atrial Conduction, and Body Mass Index 

      Del Greco M F; Foco L; Teumer A; Verweij N; Paglia G; Meraviglia V; Melotti R; Vukovic V; Rauhe W; Joshi PK; Demirkan A; Felix SB; Pietzner M; Said MA; van de Vegte YJ; van der Harst P; Wright AF; Hicks AA; Campbell H; Dörr M; Snieder H; Wilson JF; Pramstaller PP; Rossini A; Pattaro C. (2019)
      BACKGROUND: Lipids are increasingly involved in cardiovascular risk prediction as potential proarrhythmic influencers. However, knowledge is limited about the specific mechanisms connecting lipid alterations with atrial ...
    • Localising loci underlying complex trait variation using Regional Genomic Relationship Mapping 

      Nagamine Y; Pong-Wong R; Navarro P; Vitart V; Hayward C; Rudan I; Campbell H; Wilson J; Wild S; Hicks AA; Pramstaller PP; Hastie N; Wright AF; Haley CS (2012)
      The limited proportion of complex trait variance identified in genome-wide association studies may reflect the limited power of single SNP analyses to detect either rare causative alleles or those of small effect. Motivated ...
    • Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts 

      Aulchenko YS; Ripatti S; Lindqvist I; Boomsma D; Heid IM; Pramstaller PP; Penninx BW; Janssens AC; Wilson JF; Spector T; Martin NG; Pedersen NL; Kyvik KO; Kaprio J; Hofman A; Freimer NB; Jarvelin MR; Gyllensten U; Campbell H; Rudan I; Johansson A; Marroni F; Hayward C; Vitart V; Jonasson I; Pattaro C; Wright A; Hastie N; Pichler I; Hicks AA; Falchi M; Willemsen G; Hottenga JJ; de Geus EJ; Montgomery GW; Whitfield J; Magnusson P; Saharinen J; Perola M; Silander K; Isaacs A; Sijbrands EJ; Uitterlinden AG; Witteman JC; Oostra BA; Elliott P; Ruokonen A; Sabatti C; Gieger C; Meitinger T; Kronenberg F; Döring A; Wichmann HE; Smit JH; McCarthy MI; van Duijn CM; Peltonen L; ENGAGE Consortium (2009)
      Recent genome-wide association (GWA) studies of lipids have been conducted in samples ascertained for other phenotypes, particularly diabetes. Here we report the first GWA analysis of loci affecting total cholesterol (TC), ...
    • Low-frequency variants in HMGA1 are not associated with type 2 diabetes risk 

      Marquez M; Huyvaert M; Perry JR; Pearson RD; Falchi M; Morris AP; Vivequin S; Lobbens S; Yengo L; Gaget S; Pattou F; Poulain-Godefroy O; Charpentier G; Carlsson LM; Jacobson P; Sjöström L; Lantieri O; Heude B; Walley A; Balkau B; Marre M; Froguel P; Cauchi S; DIAGRAM Consortium (2012)
      It has recently been suggested that the low-frequency c.136-14_136-13insC variant in high-mobility group A1 (HMGA1) may strongly contribute to insulin resistance and type 2 diabetes risk. In our study, we attempted to ...
    • LRRK2 mouse models: dissecting the behavior, striatal neurochemistry and neurophysiology of PD pathogenesis 

      Volta M; Melrose H (2017)
      Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common genetic cause of familial Parkinson's disease (PD), resembling the sporadic disorder. Intensive effort has been directed toward LRRK2 mouse modeling and ...