Recent Submissions

  • Genome-wide association studies of albuminuria: towards genetic stratification in diabetes? 

    Pattaro C (2018)
    Genome-wide association studies (GWAS) have been very successful in unraveling the polygenic structure of several complex diseases and traits. In the case of albuminuria, despite the large sample size achieved by some ...
  • The UMOD Locus: Insights into the Pathogenesis and Prognosis of Kidney Disease 

    Devuyst O; Pattaro C (2018)
    The identification of genetic factors associated with kidney disease has the potential to provide critical insights into disease mechanisms. Genome-wide association studies have uncovered genomic regions associated with ...
  • A network-based meta-analysis for characterizing the genetic landscape of human aging 

    Blankenburg H; Pramstaller P; Domingues F (2018)
    Great amounts of omics data are generated in aging research, but their diverse and partly complementary nature requires integrative analysis approaches for investigating aging processes and connections to age-related ...
  • Variants in STAT5B associate with serum TC and LDL-C levels 

    Kornfeld JW; Isaacs A; Vitart V; Pospisilik JA; Meitinger T; Gyllensten U; Wilson JF; Rudan I; Campbell H; Penninger JM; Sexl V; Moriggl R; van Duijn C; Pramstaller PP; Hicks AA (2011)
    CONTEXT: Known genetic variants influencing serum lipid levels do not adequately account for the observed population variability of these phenotypes. The GH/signal transducers and activators of transcription (STAT) signaling ...
  • Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels 

    Oexle K; Ried JS; Hicks AA; Tanaka T; Hayward C; Bruegel M; Gögele M; Lichtner P; Müller-Myhsok B; Döring A; Illig T; Schwienbacher C; Minelli C; Pichler I; Fiedler GM; Thiery J; Rudan I; Wright AF; Campbell H; Ferrucci L; Bandinelli S; Pramstaller PP; Wichmann HE; Gieger C; Winkelmann J; Meitinger T (2011)
    The level of body iron storage and the erythropoietic need for iron are indicated by the serum levels of ferritin and soluble transferrin receptor (sTfR), respectively. A meta-analysis of five genome-wide association studies ...
  • Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy 

    Sibbing D; Pfeufer A; Perisic T; Mannes AM; Fritz-Wolf K; Unwin S; Sinner MF; Gieger C; Gloeckner CJ; Wichmann HE; Kremmer E; Schäfer Z; Walch A; Hinterseer M; Näbauer M; Kääb S; Kastrati A; Schömig A; Meitinger T; Bornkamm GW; Conrad M; von Beckerath N (2011)
    AIMS: Cardiac energy requirement is met to a large extent by oxidative phosphorylation in mitochondria that are highly abundant in cardiac myocytes. Human mitochondrial thioredoxin reductase (TXNRD2) is a selenocysteine ...
  • Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study 

    Wilk JB; Tobin JE; Suchowersky O; Shill HA; Klein C; Wooten GF; Lew MF; Mark MH; Guttman M; Watts RL; Singer C; Growdon JH; Latourelle JC; Saint-Hilaire MH; DeStefano AL; Prakash R; Williamson S; Berg CJ; Sun M; Goldwurm S; Pezzoli G; Racette BA; Perlmutter JS; Parsian A; Baker KB; Giroux ML; Litvan I; Pramstaller PP; Nicholson G; Burn DJ; Chinnery PF; Vieregge P; Slevin JT; Cambi F; MacDonald ME; Gusella JF; Myers RH; Golbe LI (2006)
    BACKGROUND: Polymorphisms in the glutathione S-transferase pi gene (GSTP1), encoding GSTP1-1, a detoxification enzyme, may increase the risk of Parkinson disease (PD) with exposure to pesticides. Using the GenePD Study ...
  • 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 ...
  • New gene functions in megakaryopoiesis and platelet formation 

    Gieger C; Radhakrishnan A; Cvejic A; Tang W; Porcu E; Pistis G; Serbanovic-Canic J; Elling U; Goodall AH; Labrune Y; Lopez LM; Mägi R; Meacham S; Okada Y; Pirastu N; Sorice R; Teumer A; Voss K; Zhang W; Ramirez-Solis R; Bis JC; Ellinghaus D; Gögele M; Hottenga JJ; Langenberg C; Kovacs P; O'Reilly PF; Shin SY; Esko T; Hartiala J; Kanoni S; Murgia F; Parsa A; Stephens J; van der Harst P; Ellen van der Schoot C; Allayee H; Attwood A; Balkau B; Bastardot F; Basu S; Baumeister SE; Biino G; Bomba L; Bonnefond A; Cambien F; Chambers JC; Cucca F; D'Adamo P; Davies G; de Boer RA; de Geus EJ; Döring A; Elliott P; Erdmann J; Evans DM; Falchi M; Feng W; Folsom AR; Frazer IH; Gibson QD; Glazer NL; Hammond C; Hartikainen AL; Heckbert SR; Hengstenberg C; Hersch M; Illig T; Loos RJ; Jolley J; Khaw KT; Kühnel B; Kyrtsonis MC; Lagou V; Lloyd-Jones H; Lumley T; Mangino M; Maschio A; Mateo Leach I; McKnight B; Memari Y; Mitchell BD; Montgomery GW; Nakamura Y; Nauck M; Navis G; Nöthlings U; Nolte IM; Porteous DJ; Pouta A; Pramstaller PP; Pullat J; Ring SM; Rotter JI; Ruggiero D; Ruokonen A; Sala C; Samani NJ; Sambrook J; Schlessinger D; Schreiber S; Schunkert H; Scott J; Smith NL; Snieder H; Starr JM; Stumvoll M; Takahashi A; Tang WH; Taylor K; Tenesa A; Lay Thein S; Tönjes A; Uda M; Ulivi S; van Veldhuisen DJ; Visscher PM; Völker U; Wichmann HE; Wiggins KL; Willemsen G; Yang TP; Hua Zhao J; Zitting P; Bradley JR; Dedoussis GV; Gasparini P; Hazen SL; Metspalu A; Pirastu M; Shuldiner AR; Joost van Pelt L; Zwaginga JJ; Boomsma DI; Deary IJ; Franke A; Froguel P; Ganesh SK; Jarvelin MR; Martin NG; Meisinger C; Psaty BM; Spector TD; Wareham NJ; Akkerman JW; Ciullo M; Deloukas P; Greinacher A; Jupe S; Kamatani N; Khadake J; Kooner JS; Penninger J; Prokopenko I; Stemple D; Toniolo D; Wernisch L; Sanna S; Hicks AA; Rendon A; Ferreira MA; Ouwehand WH; Soranzo N (2011)
    Platelets are the second most abundant cell type in blood and are essential for maintaining haemostasis. Their count and volume are tightly controlled within narrow physiological ranges, but there is only limited understanding ...
  • The chromosome 9p21 region and myocardial infarction in a European population 

    Koch W; Türk S; Erl A; Hoppmann P; Pfeufer A; King L; Schömig A; Kastrati A (2011)
    OBJECTIVE: Sequence variation at Ch9p21 is a predisposing genetic factor for a number of diseases, including myocardial infarction (MI) and diabetes. We determined the risk of MI associated with various alleles and ...
  • Phase-contrast microtomography: are the tracers necessary for stem cell tracking in infarcted hearts? 

    Giuliani A; Mencarelli M; Frati C; Savi M; Lagrasta C; Pompilio G; Rossini A; Quaini F (2018)
    Recent literature has identified innovative approaches of cellular therapy to generate new myocardium involving transcoronary and intramyocardial injection of cardiac progenitor cells (CPCs). One of the limiting factors ...
  • The solvent component of macromolecular crystals 

    Weichenberger CX; Afonine PV; Kantardjieff K; Rupp B (2015)
    The mother liquor from which a biomolecular crystal is grown will contain water, buffer molecules, native ligands and cofactors, crystallization precipitants and additives, various metal ions, and often small-molecule ...
  • The Cooperative Health Research in South Tyrol (CHRIS) study: rationale, objectives, and preliminary results 

    Pattaro C; Gögele M; Mascalzoni D; Melotti R; Schwienbacher C; De Grandi A; Foco L; D'Elia Y; Linder B; Fuchsberger C; Minelli C; Egger C; Kofink LS; Zanigni S; Schäfer T; Facheris MF; Smárason SV; Rossini A; Hicks AA; Weiss H; Pramstaller PP. (2015)
    The Cooperative Health Research In South Tyrol (CHRIS) study is a population-based study with a longitudinal lookout to investigate the genetic and molecular basis of age-related common chronic conditions and their interaction ...
  • Modulation of genetic associations with serum urate levels by body-mass-index in humans 

    Huffman JE; Albrecht E; Teumer A; Mangino M; Kapur K; Johnson T; Kutalik Z; Pirastu N; Pistis G; Lopez LM; Haller T; Salo P; Goel A; Li M; Tanaka T; Dehghan A; Ruggiero D; Malerba G; Smith AV; Nolte IM; Portas L; Phipps-Green A; Boteva L; Navarro P; Johansson A; Hicks AA; Polasek O; Esko T; Peden JF; Harris SE; Murgia F; Wild SH; Tenesa A; Tin A; Mihailov E; Grotevendt A; Gislason GK; Coresh J; D'Adamo P; Ulivi S; Vollenweider P; Waeber G; Campbell S; Kolcic I; Fisher K; Viigimaa M; Metter JE; Masciullo C; Trabetti E; Bombieri C; Sorice R; Döring A; Reischl E; Strauch K; Hofman A; Uitterlinden AG; Waldenberger M; Wichmann HE; Davies G; Gow AJ; Dalbeth N; Stamp L; Smit JH; Kirin M; Nagaraja R; Nauck M; Schurmann C; Budde K; Farrington SM; Theodoratou E; Jula A; Salomaa V; Sala C; Hengstenberg C; Burnier M; Mägi R; Klopp N; Kloiber S; Schipf S; Ripatti S; Cabras S; Soranzo N; Homuth G; Nutile T; Munroe PB; Hastie N; Campbell H; Rudan I; Cabrera C; Haley C; Franco OH; Merriman TR; Gudnason V; Pirastu M; Penninx BW; Snieder H; Metspalu A; Ciullo M; Pramstaller PP; van Duijn CM; Ferrucci L; Gambaro G; Deary IJ; Dunlop MG; Wilson JF; Gasparini P; Gyllensten U; Spector TD; Wright AF; Hayward C; Watkins H; Perola M; Bochud M; Kao WH; Caulfield M; Toniolo D; Völzke H; Gieger C; Köttgen A; Vitart V (2015)
    We tested for interactions between body mass index (BMI) and common genetic variants affecting serum urate levels, genome-wide, in up to 42569 participants. Both stratified genome-wide association (GWAS) analyses, in lean, ...
  • Dintor: functional annotation of genomic and proteomic data 

    Weichenberger CX; Blankenburg H; Palermo A; D'Elia Y; König E; Bernstein E; Domingues FS (2015)
    BACKGROUND: During the last decade, a great number of extremely valuable large-scale genomics and proteomics datasets have become available to the research community. In addition, dropping costs for conducting high-throughput ...
  • 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 ...
  • Biological interpretation of genome-wide association studies using predicted gene functions 

    Pers TH; Karjalainen JM; Chan Y; Westra HJ; Wood AR; Yang J; Lui JC; Vedantam S; Gustafsson S; Esko T; Frayling T; Speliotes EK; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; Boehnke M; Raychaudhuri S; Fehrmann RS; Hirschhorn JN; Franke, L (2015)
    The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted gene functions ...
  • A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape 

    Ried JS; Jeff M J; Chu AY; Bragg-Gresham JL; van Dongen J; Huffman JE; Ahluwalia TS; Cadby G; Eklund N; Eriksson J; Esko T; Feitosa MF; Goel A; Gorski M; Hayward C; Heard-Costa NL; Jackson AU; Jokinen E; Kanoni S; Kristiansson K; Kutalik Z; Lahti J; Luan J; Mägi R; Mahajan A; Mangino M; Medina-Gomez C; Monda KL; Nolte IM; Pérusse L; Prokopenko I; Qi L; Rose LM; Salvi E; Smith MT; Snieder H; Stančáková A; Ju Sung Y; Tachmazidou I; Teumer A; Thorleifsson G; van der Harst P; Walker RW; Wang SR; Wild SH; Willems SM; Wong A; Zhang W; Albrecht E; Couto Alves A; Bakker SJ; Barlassina C; Bartz TM; Beilby J; Bellis C; Bergman RN; Bergmann S; Blangero J; Blüher M; Boerwinkle E; Bonnycastle LL; Bornstein SR; Bruinenberg M; Campbell H; Chen YI; Chiang CW; Chines PS; Collins FS; Cucca F; Cupples LA; D'Avila F; de Geus EJ; Dedoussis G; Dimitriou M; Döring A; Eriksson JG; Farmaki AE; Farrall M; Ferreira T; Fischer K; Forouhi NG; Friedrich N; Gjesing AP; Glorioso N; Graff M; Grallert H; Grarup N; Gräßler J; Grewal J; Hamsten A; Harder MN; Hartman CA; Hassinen M; Hastie N; Hattersley AT; Havulinna AS; Heliövaara M; Hillege H; Hofman A; Holmen O; Homuth G; Hottenga JJ; Hui J; Husemoen LL; Hysi PG; Isaacs A; Ittermann T; Jalilzadeh S; James AL; Jørgensen T; Jousilahti P; Jula A; Marie Justesen J; Justice AE; Kähönen M; Karaleftheri M; Tee Khaw K; Keinanen-Kiukaanniemi SM; Kinnunen L; Knekt PB; Koistinen HA; Kolcic I; Kooner IK; Koskinen S; Kovacs P; Kyriakou T; Laitinen T; Langenberg C; Lewin AM; Lichtner P; Lindgren CM; Lindström J; Linneberg A; Lorbeer R; Lorentzon M; Luben R; Lyssenko V; Männistö S; Manunta P; Leach IM; McArdle WL; Mcknight B; Mohlke KL; Mihailov E; Milani L; Mills R; Montasser ME; Morris AP; Müller G; Musk AW; Narisu N; Ong KK; Oostra BA; Osmond C; Palotie A; Pankow JS; Paternoster L; Penninx BW; Pichler I; Pilia MG; Polašek O; Pramstaller PP; Raitakari OT; Rankinen T; Rao DC; Rayner NW; Ribel-Madsen R; Rice TK; Richards M; Ridker PM; Rivadeneira F; Ryan KA; Sanna S; Sarzynski MA; Scholtens S; Scott RA; Sebert S; Southam L; Sparsø TH; Steinthorsdottir V; Stirrups K; Stolk RP; Strauch K; Stringham HM; Swertz MA; Swift AJ; Tönjes A; Tsafantakis E; van der Most PJ; Van Vliet-Ostaptchouk JV; Vandenput L; Vartiainen E; Venturini C; Verweij N; Viikari JS; Vitart V; Vohl MC; Vonk JM; Waeber G; Widén E; Willemsen G; Wilsgaard T; Winkler TW; Wright AF; Yerges-Armstrong LM; Hua Zhao J; Carola Zillikens M; Boomsma DI; Bouchard C; Chambers JC; Chasman DI; Cusi D; Gansevoort RT; Gieger C; Hansen T; Hicks AA; Hu F; Hveem K; Jarvelin MR; Kajantie E; Kooner JS; Kuh D; Kuusisto J; Laakso M; Lakka TA; Lehtimäki T; Metspalu A; Njølstad I; Ohlsson C; Oldehinkel AJ; Palmer LJ; Pedersen O; Perola M; Peters A; Psaty BM; Puolijoki H; Rauramaa R; Rudan I; Salomaa V; Schwarz PE; Shudiner AR; Smit JH; Sørensen TI; Spector TD; Stefansson K; Stumvoll M; Tremblay A; Tuomilehto J; Uitterlinden AG; Uusitupa M; Völker U; Vollenweider P; Wareham NJ; Watkins H; Wilson JF; Zeggini E; Abecasis GR; Boehnke M; Borecki IB; Deloukas P; van Duijn CM; Fox C; Groop LC; Heid IM; Hunter DJ; Kaplan RC; McCarthy MI; North KE; O'Connell JR; Schlessinger D; Thorsteinsdottir U; Strachan DP; Frayling T; Hirschhorn JN; Müller-Nurasyid M; Loos RJ (2016)
    Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a ...
  • Computational assessment of feature combinations for pathogenic variant prediction 

    König E; Rainer J; Domingues FS (2016)
    BACKGROUND: Although several methods have been proposed for predicting the effects of genetic variants and their role in disease, it is still a challenge to identify and prioritize pathogenic variants within sequencing ...
  • 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 ...

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