Now showing items 177-196 of 424

    • Genome-wide association study identifies three novel loci for type 2 diabetes 

      Hara K; Fujita H; Johnson TA; Yamauchi T; Yasuda K; Horikoshi M; Peng C; Hu C; Ma RC; Imamura M; Iwata M; Tsunoda T; Morizono T; Shojima N; So WY; Leung TF; Kwan P; Zhang R; Wang J; Yu W; Maegawa H; Hirose H; DIAGRAM Consortium; Kaku K; Ito C; Watada H; Tanaka Y; Tobe K; Kashiwagi A; Kawamori R; Jia W; Chan JC; Teo YY; Shyong TE; Kamatani N; Kubo M; Maeda S; Kadowaki T (2014)
      Although over 60 loci for type 2 diabetes (T2D) have been identified, there still remains a large genetic component to be clarified. To explore unidentified loci for T2D, we performed a genome-wide association study (GWAS) ...
    • Genome-wide association study of kidney function decline in individuals of European descent 

      Gorski M; Tin A; Garnaas M; McMahon GM; Chu AY; Tayo BO; Pattaro C; Teumer A; Chasman DI; Chalmers J; Hamet P; Tremblay J; Woodward M; Aspelund T; Eiriksdottir G; Gudnason V; Harris TB; Launer LJ; Smith AV; Mitchell BD; O'Connell JR; Shuldiner AR; Coresh J; Li M; Freudenberger P; Hofer E; Schmidt H; Schmidt R; Holliday EG; Mitchell P; Wang JJ; de Boer IH; Li G; Siscovick DS; Kutalik Z; Corre T; Vollenweider P; Waeber G; Gupta J; Kanetsky PA; Hwang SJ; Olden M; Yang Q; de Andrade M; Atkinson EJ; Kardia SL; Turner ST; Stafford JM; Ding J; Liu Y; Barlassina C; Cusi D; Salvi E; Staessen JA; Ridker PM; Grallert H; Meisinger C; Müller-Nurasyid M; Krämer BK; Kramer H; Rosas SE; Nolte IM; Penninx BW; Snieder H; Del Greco M F; Franke A; Nöthlings U; Lieb W; Bakker SJ; Gansevoort RT; van der Harst P; Dehghan A; Franco OH; Hofman A; Rivadeneira F; Sedaghat S; Uitterlinden AG; Coassin S; Haun M; Kollerits B; Kronenberg F; Paulweber B; Aumann N; Endlich K; Pietzner M; Völker U; Rettig R; Chouraki V; Helmer C; Lambert JC; Metzger M; Stengel B; Lehtimäki T; Lyytikäinen LP; Raitakari O; Johnson A; Parsa A; Bochud M; Heid IM; Goessling W; Köttgen A; Kao WH; Fox CS; Böger CA (2015)
      Genome-wide association studies (GWASs) have identified multiple loci associated with cross-sectional eGFR, but a systematic genetic analysis of kidney function decline over time is missing. Here we conducted a GWAS ...
    • A genome-wide association study of sleep habits and insomnia 

      Byrne EM; Gehrman PR; Medland SE; Nyholt DR; Heath AC; Madden PA; Hickie IB; van Duijn CM; Henders AK; Montgomery GW; Martin NG; Wray NR; Chronogen Consortium (2013)
      Several aspects of sleep behavior such as timing, duration and quality have been demonstrated to be heritable. To identify common variants that influence sleep traits in the population, we conducted a genome-wide association ...
    • Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts 

      Boraska V; Day-Williams A; Franklin CS; Elliott KS; Panoutsopoulou K; Tachmazidou I; Albrecht E; Bandinelli S; Beilin LJ; Bochud M; Cadby G; Ernst F; Evans DM; Hayward C; Hicks AA; Huffman J; Huth C; James AL; Klopp N; Kolcic I; Kutalik Z; Lawlor DA; Musk AW; Pehlic M; Pennell CE; Perry JR; Peters A; Polasek O; St Pourcain B; Ring SM; Salvi E; Schipf S; Staessen JA; Teumer A; Timpson N; Vitart V; Warrington NM; Yaghootkar H; Zemunik T; Zgaga L; An P; Anttila V; Borecki IB; Holmen J; Ntalla I; Palotie A; Pietiläinen KH; Wedenoja J; Winsvold BS; Dedoussis GV; Kaprio J; Province MA; Zwart JA; Burnier M; Campbell H; Cusi D; Smith GD; Frayling TM; Gieger C; Palmer LJ; Pramstaller PP; Rudan I; Völzke H; Wichmann HE; Wright AF; Zeggini E (2012)
      Brachial circumference (BC), also known as upper arm or mid arm circumference, can be used as an indicator of muscle mass and fat tissue, which are distributed differently in men and women. Analysis of anthropometric ...
    • Genome-wide Enrichment Analysis between Endometriosis and Obesity-related Traits Reveals Novel Susceptibility Loci 

      Rahmioglu N; Macgregor S; Drong AW; Hedman AK; Harris HR; Randall JC; Prokopenko I; The International EndoGene Consortium IEC; The GIANT Consortium; Nyholt DR; Morris AP; Montgomery GW; Missmer SA; Lindgren CM; Zondervan KT (2015)
      Endometriosis is a chronic inflammatory condition in women that results in pelvic pain and subfertility, and has been associated with decreased body mass index (BMI). Genetic variants contributing to the heritable component ...
    • Genome-wide linkage analysis of serum creatinine in three isolated European populations 

      Pattaro C; Aulchenko YS; Isaacs A; Vitart V; Hayward C; Franklin CS; Polasek O; Kolcic I; Biloglav Z; Campbell S; Hastie N; Lauc G; Meitinger T; Oostra BA; Gyllensten U; Wilson JF; Pichler I; Hicks AA; Campbell H; Wright AF; Rudan I; van Duijn CM; Riegler P; Marroni F; Pramstaller PP; EUROSPAN Consortium (2009)
      There is increasing evidence for a role of genetic predisposition in the etiology of kidney disease, but linkage scans have been poorly replicated. Here we performed a genome-wide linkage analysis of serum creatinine on ...
    • Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity 

      Joshi PK; Pirastu N; Kentistou KA; Fischer K; Hofer E; Schraut KE; Clark DW; Nutile T; Barnes CLK; Timmers PRHJ; Shen X; Gandin I; McDaid AF; Hansen TF; Gordon SD; Giulianini F; Boutin TS; Abdellaoui A; Zhao W; Medina-Gomez C; Bartz TM; Trompet S; Lange LA; Raffield L; van der Spek A; Galesloot TE; Proitsi P; Yanek LR; Bielak LF; Payton A; Murgia F; Concas MP; Biino G; Tajuddin SM; Seppälä I; Amin N; Boerwinkle E; Børglum AD; Campbell A; Demerath EW; Demuth I; Faul JD; Ford I; Gialluisi A; Gögele M; Graff M; Hingorani A; Hottenga JJ; Hougaard DM; Hurme MA; Ikram MA; Jylhä M; Kuh D; Ligthart L; Lill CM; Lindenberger U; Lumley T; Mägi R; Marques-Vidal P; Medland SE; Milani L; Nagy R; Ollier WER; Peyser PA; Pramstaller PP; Ridker PM; Rivadeneira F; Ruggiero D; Saba Y; Schmidt R; Schmidt H; Slagboom PE; Smith BH; Smith JA; Sotoodehnia N; Steinhagen-Thiessen E; van Rooij FJA; Verbeek AL; Vermeulen SH; Vollenweider P; Wang Y; Werge T; Whitfield JB; Zonderman AB; Lehtimäki T; Evans MK; Pirastu M; Fuchsberger C; Bertram L; Pendleton N; Kardia SLR; Ciullo M; Becker DM; Wong A; Psaty BM; van Duijn CM; Wilson JG; Jukema JW; Kiemeney L; Uitterlinden AG; Franceschini N; North KE; Weir DR; Metspalu A; Boomsma DI; Hayward C; Chasman D; Martin NG; Sattar N; Campbell H; Esko T; Kutalik Z; Wilson JF. (2017)
      Genomic analysis of longevity offers the potential to illuminate the biology of human aging. Here, using genome-wide association meta-analysis of 606,059 parents' survival, we discover two regions associated with longevity ...
    • Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture 

      Berndt SI; Gustafsson S; Mägi R; Ganna A; Wheeler E; Feitosa MF; Justice AE; Monda KL; Croteau-Chonka DC; Day FR; Esko T; Fall T; Ferreira T; Gentilini D; Jackson AU; Luan J; Randall JC; Vedantam S; Willer CJ; Winkler TW; Wood AR; Workalemahu T; Hu YJ; Lee SH; Liang L; Lin DY; Min JL; Neale BM; Thorleifsson G; Yang J; Albrecht E; Amin N; Bragg-Gresham JL; Cadby G; den Heijer M; Eklund N; Fischer K; Goel A; Hottenga JJ; Huffman JE; Jarick I; Johansson Å; Johnson T; Kanoni S; Kleber ME; König IR; Kristiansson K; Kutalik Z; Lamina C; Lecoeur C; Li G; Mangino M; McArdle WL; Medina-Gomez C; Müller-Nurasyid M; Ngwa JS; Nolte IM; Paternoster L; Pechlivanis S; Perola M; Peters MJ; Preuss M; Rose LM; Shi J; Shungin D; Smith AV; Strawbridge RJ; Surakka I; Teumer A; Trip MD; Tyrer J; van Vliet-Ostaptchouk JV; Vandenput L; Waite LL; Zhao JH; Absher D; Asselbergs FW; Atalay M; Attwood AP; Balmforth AJ; Basart H; Beilby J; Bonnycastle LL; Brambilla P; Bruinenberg M; Campbell H; Chasman DI; Chines PS; Collins FS; Connell JM; Cookson WO; de Faire U; de Vegt F; Dei M; Dimitriou M; Edkins S; Estrada K; Evans DM; Farrall M; Ferrario MM; Ferrières J; Franke L; Frau F; Gejman PV; Grallert H; Grönberg H; Gudnason V; Hall AS; Hall P; Hartikainen AL; Hayward C; Heard-Costa NL; Heath AC; Hebebrand J; Homuth G; Hu FB; Hunt SE; Hyppönen E; Iribarren C; Jacobs KB; Jansson JO; Jula A; Kähönen M; Kathiresan S; Kee F; Khaw KT; Kivimäki M; Koenig W; Kraja AT; Kumari M; Kuulasmaa K; Kuusisto J; Laitinen JH; Lakka TA; Langenberg C; Launer LJ; Lind L; Lindström J; Liu J; Liuzzi A; Lokki ML; Lorentzon M; Madden PA; Magnusson PK; Manunta P; Marek D; März W; Mateo Leach I; McKnight B; Medland SE; Mihailov E; Milani L; Montgomery GW; Mooser V; Mühleisen TW; Munroe PB; Musk AW; Narisu N; Navis G; Nicholson G; Nohr EA; Ong KK; Oostra BA; Palmer CN; Palotie A; Peden JF; Pedersen N; Peters A; Polasek O; Pouta A; Pramstaller PP; Prokopenko I; Pütter C; Radhakrishnan A; Raitakari O; Rendon A; Rivadeneira F; Rudan I; Saaristo TE; Sambrook JG; Sanders AR; Sanna S; Saramies J; Schipf S; Schreiber S; Schunkert H; Shin SY; Signorini S; Sinisalo J; Skrobek B; Soranzo N; Stancáková A; Stark K; Stephens JC; Stirrups K; Stolk RP; Stumvoll M; Swift AJ; Theodoraki EV; Thorand B; Tregouet DA; Tremoli E; van der Klauw MM; van Meurs JB; Vermeulen SH; Viikari J; Virtamo J; Vitart V; Waeber G; Wang Z; Widén E; Wild SH; Willemsen G; Winkelmann BR; Witteman JC; Wolffenbuttel BH; Wong A; Wright AF; Zillikens MC; Amouyel P; Boehm BO; Boerwinkle E; Boomsma DI; Caulfield MJ; Chanock SJ; Cupples LA; Cusi D; Dedoussis GV; Erdmann J; Eriksson JG; Franks PW; Froguel P; Gieger C; Gyllensten U; Hamsten A; Harris TB; Hengstenberg C; Hicks AA; Hingorani A; Hinney A; Hofman A; Hovingh KG; Hveem K; Illig T; Jarvelin MR; Jöckel KH; Keinanen-Kiukaanniemi SM; Kiemeney LA; Kuh D; Laakso M; Lehtimäki T; Levinson DF; Martin NG; Metspalu A; Morris AD; Nieminen MS; Njølstad I; Ohlsson C; Oldehinkel AJ; Ouwehand WH; Palmer LJ; Penninx B; Power C; Province MA; Psaty BM; Qi L; Rauramaa R; Ridker PM; Ripatti S; Salomaa V; Samani NJ; Snieder H; Sørensen TI; Spector TD; Stefansson K; Tönjes A; Tuomilehto J; Uitterlinden AG; Uusitupa M; van der Harst P; Vollenweider P; Wallaschofski H; Wareham NJ; Watkins H; Wichmann HE; Wilson JF; Abecasis GR; Assimes TL; Barroso I; Boehnke M; Borecki IB; Deloukas P; Fox CS; Frayling T; Groop LC; Haritunian T; Heid IM; Hunter D; Kaplan RC; Karpe F; Moffatt MF; Mohlke KL; O'Connell JR; Pawitan Y; Schadt EE; Schlessinger D; Steinthorsdottir V; Strachan DP; Thorsteinsdottir U; van Duijn CM; Visscher PM; Di Blasio AM; Hirschhorn JN; Lindgren CM; Morris AP; Meyre D; Scherag A; McCarthy MI; Speliotes EK; North KE; Loos RJ; Ingelsson E (2013)
      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 ...
    • Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels 

      Kilpeläinen TO; Carli JF; Skowronski AA; Sun Q; Kriebel J; Feitosa MF; Hedman ÅK; Drong AW; Hayes JE; Zhao J; Pers TH; Schick U; Grarup N; Kutalik Z; Trompet S; Mangino M; Kristiansson K; Beekman M; Lyytikäinen LP; Eriksson J; Henneman P; Lahti J; Tanaka T; Luan J; Del Greco M F; Pasko D; Renström F; Willems SM; Mahajan A; Rose LM; Guo X; Liu Y; Kleber ME; Pérusse L; Gaunt T; Ahluwalia TS; Ju Sung Y; Ramos YF; Amin N; Amuzu A; Barroso I; Bellis C; Blangero J; Buckley BM; Böhringer S; I Chen YD; de Craen AJ; Crosslin DR; Dale CE; Dastani Z; Day FR; Deelen J; Delgado GE; Demirkan A; Finucane FM; Ford I; Garcia ME; Gieger C; Gustafsson S; Hallmans G; Hankinson SE; Havulinna AS; Herder C; Hernandez D; Hicks AA; Hunter DJ; Illig T; Ingelsson E; Ioan-Facsinay A; Jansson JO; Jenny NS; Jørgensen ME; Jørgensen T; Karlsson M; Koenig W; Kraft P; Kwekkeboom J; Laatikainen T; Ladwig KH; LeDuc CA; Lowe G; Lu Y; Marques-Vidal P; Meisinger C; Menni C; Morris AP; Myers RH; Männistö S; Nalls MA; Paternoster L; Peters A; Pradhan AD; Rankinen T; Rasmussen-Torvik LJ; Rathmann W; Rice TK; Brent Richards J; Ridker PM; Sattar N; Savage DB; Söderberg S; Timpson NJ; Vandenput L; van Heemst D; Uh HW; Vohl MC; Walker M; Wichmann HE; Widén E; Wood AR; Yao J; Zeller T; Zhang Y; Meulenbelt I; Kloppenburg M; Astrup A; Sørensen TI; Sarzynski MA; Rao DC; Jousilahti P; Vartiainen E; Hofman A; Rivadeneira F; Uitterlinden AG; Kajantie E; Osmond C; Palotie A; Eriksson JG; Heliövaara M; Knekt PB; Koskinen S; Jula A; Perola M; Huupponen RK; Viikari JS; Kähönen M; Lehtimäki T; Raitakari OT; Mellström D; Lorentzon M; Casas JP; Bandinelli S; März W; Isaacs A; van Dijk KW; van Duijn CM; Harris TB; Bouchard C; Allison MA; Chasman DI; Ohlsson C; Lind L; Scott RA; Langenberg C; Wareham NJ; Ferrucci L; Frayling TM; Pramstaller PP; Borecki IB; Waterworth DM; Bergmann S; Waeber G; Vollenweider P; Vestergaard H; Hansen T; Pedersen O; Hu FB; Eline Slagboom P; Grallert H; Spector TD; Jukema JW; Klein RJ; Schadt EE; Franks PW; Lindgren CM; Leibel RL; Loos RJ (2016)
      Leptin is an adipocyte-secreted hormone, the circulating levels of which correlate closely with overall adiposity. Although rare mutations in the leptin (LEP) gene are well known to cause leptin deficiency and severe ...
    • A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol 

      Surakka I; Isaacs A; Karssen LC; Laurila PP; Middelberg RP; Tikkanen E; Ried JS; Lamina C; Mangino M; Igl W; Hottenga JJ; Lagou V; van der Harst P; Mateo Leach I; Esko T; Kutalik Z; Wainwright NW; Struchalin MV; Sarin AP; Kangas AJ; Viikari JS; Perola M; Rantanen T; Petersen AK; Soininen P; Johansson A; Soranzo N; Heath AC; Papamarkou T; Prokopenko I; Tönjes A; Kronenberg F; Döring A; Rivadeneira F; Montgomery GW; Whitfield JB; Kähönen M; Lehtimäki T; Freimer NB; Willemsen G; de Geus EJ; Palotie A; Sandhu MS; Waterworth DM; Metspalu A; Stumvoll M; Uitterlinden AG; Jula A; Navis G; Wijmenga C; Wolffenbuttel BH; Taskinen MR; Ala-Korpela M; Kaprio J; Kyvik KO; Boomsma DI; Pedersen NL; Gyllensten U; Wilson JF; Rudan I; Campbell H; Pramstaller PP; Spector TD; Witteman JC; Eriksson JG; Salomaa V; Oostra BA; Raitakari OT; Wichmann HE; Gieger C; Järvelin MR; Martin NG; Hofman A; McCarthy MI; Peltonen L; van Duijn CM; Aulchenko YS; Ripatti S; ENGAGE Consortium (2011)
      Recent genome-wide association (GWA) studies described 95 loci controlling serum lipid levels. These common variants explain ∼25% of the heritability of the phenotypes. To date, no unbiased screen for gene–environment ...
    • Genomewide association study for onset age in Parkinson disease 

      Latourelle JC; Pankratz N; Dumitriu A; Wilk JB; Goldwurm S; Pezzoli G; Mariani CB; DeStefano AL; Halter C; Gusella JF; Nichols WC; Myers RH; Foroud T; PROGENI Investigators; Coordinators and Molecular Genetic Laboratories; GenePD Investigators (2009)
      BACKGROUND: Age at onset in Parkinson disease (PD) is a highly heritable quantitative trait for which a significant genetic influence is supported by multiple segregation analyses. Because genes associated with onset age ...
    • Genomewide meta-analysis identifies loci associated with IGF-I and IGEBP-3 levels with impact on age-related traits (vol 15, pg 811, 2016) [erratum] 

      Teumer A; Qi Q; Nethander M; Aschard H; Bandinelli S; Beekman M; Berndt SI; Bidlingmaier M; Broer L; CHARGE Longevity Working Group; Cappola A; Ceda GP; Chanock S; Chen MH; Chen TC; Chen YD; Chung J; Del Greco M F; Eriksson J; Ferrucci L; Friedrich N; Gnewuch C; Goodarzi MO; Grarup N; Guo T; Hammer E; Hayes RB; Hicks AA; Hofman A; Houwing-Duistermaat JJ; Hu F; Hunter DJ; Husemoen LL; Isaacs A; Jacobs KB; Janssen JA; Jansson JO; Jehmlich N; Johnson S; Juul A; Karlsson M; Kilpelainen TO; Kovacs P; Kraft P; Li C; Linneberg A; Liu Y; Loos RJ; Body Composition Genetics Consortium; Lorentzon M; Lu Y; Maggio M; Magi R; Meigs J; Mellström D; Nauck M; Newman AB; Pollak MN; Pramstaller PP; Prokopenko I; Psaty BM; Reincke M; Rimm EB; Rotter JI; Saint-Pierre A; Schurmann C; Seshadri S; Sjögren K; Slagboom P; Strickler HD; Stumvoll M; Suh Y; Sun Q; Zhang C; Svensson J; Tanaka T; Tare A; Tönjes A; Uh HW; van Duijn CM; van Heemst D; Vandenput L; Vasan RS; Völker U; Willems SM; Ohlsson C; Wallaschofski H; Kaplan RC (2017)
      The growth hormone/insulin-like growth factor (IGF) axis can be manipulated in animal models to promote longevity, and IGF-related proteins including IGF-I and IGF-binding protein-3 (IGFBP-3) have also been implicated in ...
    • Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits 

      Teumer A; Qi Q; Nethander M; Aschard H; Bandinelli S; Beekman M; Berndt SI; Bidlingmaier M; Broer L; CHARGE Longevity Working Group; Cappola A; Ceda GP; Chanock S; Chen MH; Chen TC; Chen YD; Chung J; Del Greco M F; Eriksson J; Ferrucci L; Friedrich N; Gnewuch C; Goodarzi MO; Grarup N; Guo T; Hammer E; Hayes RB; Hicks AA; Hofman A; Houwing-Duistermaat JJ; Hu F; Hunter DJ; Husemoen LL; Isaacs A; Jacobs KB; Janssen JA; Jansson JO; Jehmlich N; Johnson S; Juul A; Karlsson M; Kilpelainen TO; Kovacs P; Kraft P; Li C; Linneberg A; Liu Y; Loos RJ; Body Composition Genetics Consortium; Lorentzon M; Lu Y; Maggio M; Magi R; Meigs J; Mellström D; Nauck M; Newman AB; Pollak MN; Pramstaller PP; Prokopenko I; Psaty BM; Reincke M; Rimm EB; Rotter JI; Saint-Pierre A; Schurmann C; Seshadri S; Sjögren K; Slagboom PE; Strickler HD; Stumvoll M; Suh Y; Sun Q; Zhang C; Svensson J; Tanaka T; Tare A; Tönjes A; Uh HW; van Duijn CM; van Heemst D; Vandenput L; Vasan RS; Völker U; Willems SM; Ohlsson C; Wallaschofski H; Kaplan RC (2016)
      The growth hormone/insulin-like growth factor (IGF) axis can be manipulated in animal models to promote longevity, and IGF-related proteins including IGF-I and IGF-binding protein-3 (IGFBP-3) have also been implicated in ...
    • Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed SingleBase-Extension assay: the singular maternal history of the Tyrolean Iceman 

      Endicott P; Sanchez JJ; Pichler I; Brotherton P; Brooks J; Egarter-Vigl E; Cooper A; Pramstaller P (2009)
      BACKGROUND: Progress in the field of human ancient DNA studies has been severely restricted due to the myriad sources of potential contamination, and because of the pronounced difficulty in identifying authentic results. ...
    • A global in vivo Drosophila RNAi screen identifies NOT3 as a conserved regulator of heart function 

      Neely GG; Kuba K; Cammarato A; Isobe K; Amann S; Zhang L; Murata M; Elmén L; Gupta V; Arora S; Sarangi R; Dan D; Fujisawa S; Usami T; Xia CP; Keene AC; Alayari NN; Yamakawa H; Elling U; Berger C; Novatchkova M; Koglgruber R; Fukuda K; Nishina H; Isobe M; Pospisilik JA; Imai Y; Pfeufer A; Hicks AA; Pramstaller PP; Subramaniam S; Kimura A; Ocorr K; Bodmer R; Penninger JM (2010)
      Heart diseases are the most common causes of morbidity and death in humans. Using cardiac-specific RNAi-silencing in Drosophila, we knocked down 7061 evolutionarily conserved genes under conditions of stress. We present a ...
    • Glutathione-S-transferase genes and asthma phenotypes: a Human Genome Epidemiology (HuGE) systematic review and meta-analysis including unpublished data 

      Minelli C; Granell R; Newson R; Rose-Zerilli MJ; Torrent M; Ring SM; Holloway JW; Shaheen SO; Henderson JA (2010)
      BACKGROUND: Oxidative stress is thought to be involved in the pathogenesis of asthma. Glutathione-S-transferase (GST) enzymes, which play an important role in antioxidant defences, may therefore influence asthma risk. Two ...
    • The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study 

      Latourelle JC; Sun M; Lew MF; Suchowersky O; Klein C; Golbe LI; Mark MH; Growdon JH; Wooten GF; Watts RL; Guttman M; Racette BA; Perlmutter JS; Ahmed A; Shill HA; Singer C; Goldwurm S; Pezzoli G; Zini M; Saint-Hilaire MH; Hendricks AE; Williamson S; Nagle MW; Wilk JB; Massood T; Huskey KW; Laramie JM; DeStefano AL; Baker KB; Itin I; Litvan I; Nicholson G; Corbett A; Nance M; Drasby E; Isaacson S; Burn DJ; Chinnery PF; Pramstaller PP; Al-Hinti J; Moller AT; Ostergaard K; Sherman SJ; Roxburgh R; Snow B; Slevin JT; Cambi F; Gusella JF; Myers RH (2008)
      BACKGROUND: We report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (LRRK2)-related Parkinson's disease (PD) in a large sample of familial PD. The most frequently seen LRRK2 mutation, Gly2019Ser ...
    • Guidelines for acute ischemic stroke treatment: part II: stroke treatment 

      Martins SC; Freitas GR; Pontes-Neto OM; Pieri A; Moro CH; Jesus PA; Longo A; Evaristo EF; Carvalho JJ; Fernandes JG; Gagliardi RJ; Oliveira-Filho J; Executive Committee from the Brazilian Stroke Society and the Scientific Department in Cerebrovascular Diseases of the Brazilian Academy of Neurology (2012)
      The second part of these Guidelines covers the topics of antiplatelet, anticoagulant, and statin therapy in acute ischemic stroke, reperfusion therapy, and classification of Stroke Centers. Information on the classes and ...
    • A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site 

      Nürnberg ST; Rendon A; Smethurst PA; Paul DS; Voss K; Thon JN; Lloyd-Jones H; Sambrook JG; Tijssen MR; HaemGen Consortium; Italiano JE; Deloukas P; Gottgens B; Soranzo N; Ouwehand WH (2012)
      We recently identified 68 genomic loci where common sequence variants are associated with platelet count and volume. Platelets are formed in the bone marrow by megakaryocytes, which are derived from hematopoietic stem cells ...
    • GWAtoolbox: an R package for fast quality control and handling of genome-wide association studies meta-analysis data 

      Fuchsberger C; Taliun D; Pramstaller PP; Pattaro C; CKDGen Consortium (2012)
      SUMMARY: The GWAtoolbox is an R package that standardizes and accelerates the handling of data from genome-wide association studies (GWAS), particularly in the context of large-scale GWAS meta-analyses. A key feature of ...