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Common variants in Mendelian kidney disease genes and their association with renal function

Parsa A; Fuchsberger C; Köttgen A; O'Seaghdha CM; Pattaro C; de Andrade M; Chasman DI; Teumer A; Endlich K; Olden M; Chen MH; Tin A; Kim YJ; Taliun D; Li M; Feitosa M; Gorski M; Yang Q; Hundertmark C; Foster MC; Glazer N; Isaacs A; Rao M; Smith AV; O'Connell JR; Struchalin M; Tanaka T; Li G; Hwang SJ; Atkinson EJ; Lohman K; Cornelis MC; Johansson A; Tönjes A; Dehghan A; Couraki V; Holliday EG; Sorice R; Kutalik Z; Lehtimäki T; Esko T; Deshmukh H; Ulivi S; Chu AY; Murgia F; Trompet S; Imboden M; Kollerits B; Pistis G; Harris TB; Launer LJ; Aspelund T; Eiriksdottir G; Mitchell BD; Boerwinkle E; Schmidt H; Hofer E; Hu F; Demirkan A; Oostra BA; Turner ST; Ding J; Andrews JS; Freedman BI; Giulianini F; Koenig W; Illig T; Döring A; Wichmann HE; Zgaga L; Zemunik T; Boban M; Minelli C; Wheeler HE; Igl W; Zaboli G; Wild SH; Wright AF; Campbell H; Ellinghaus D; Nöthlings U; Jacobs G; Biffar R; Ernst F; Homuth G; Kroemer HK; Nauck M; Stracke S; Völker U; Völzke H; Kovacs P; Stumvoll M; Mägi R; Hofman A; Uitterlinden AG; Rivadeneira F; Aulchenko YS; Polasek O; Hastie N; Vitart V; Helmer C; Wang JJ; Stengel B; Ruggiero D; Bergmann S; Kähönen M; Viikari J; Nikopensius T; Province M; Colhoun H; Doney A; Robino A; Krämer BK; Portas L; Ford I; Buckley BM; Adam M; Thun GA; Paulweber B; Haun M; Sala C; Mitchell P; Ciullo M; Vollenweider P; Raitakari O; Metspalu A; Palmer C; Gasparini P; Pirastu M; Jukema JW; Probst-Hensch NM; Kronenberg F; Toniolo D; Gudnason V; Shuldiner AR; Coresh J; Schmidt R; Ferrucci L; van Duijn CM; Borecki I; Kardia SL; Liu Y; Curhan GC; Rudan I; Gyllensten U; Wilson JF; Franke A; Pramstaller PP; Rettig R; Prokopenko I; Witteman J; Hayward C; Ridker PM; Bochud M; Heid IM; Siscovick DS; Fox CS; Kao WL; Böger CA (2013)
Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms ...
Hundreds of variants clustered in genomic loci and biological pathways affect human height

Lango Allen H; Estrada K; Lettre G; Berndt SI; Weedon MN; Rivadeneira F; Willer CJ; Jackson AU; Vedantam S; Raychaudhuri S; Ferreira T; Wood AR; Weyant RJ; Segrè AV; Speliotes EK; Wheeler E; Soranzo N; Park JH; Yang J; Gudbjartsson D; Heard-Costa NL; Randall JC; Qi L; Vernon Smith A; Mägi R; Pastinen T; Liang L; Heid IM; Luan J; Thorleifsson G; Winkler TW; Goddard ME; Sin Lo K; Palmer C; Workalemahu T; Aulchenko YS; Johansson A; Zillikens MC; Feitosa MF; Esko T; Johnson T; Ketkar S; Kraft P; Mangino M; Prokopenko I; Absher D; Albrecht E; Ernst F; Glazer NL; Hayward C; Hottenga JJ; Jacobs KB; Knowles JW; Kutalik Z; Monda KL; Polasek O; Preuss M; Rayner NW; Robertson NR; Steinthorsdottir V; Tyrer JP; Voight BF; Wiklund F; Xu J; Zhao JH; Nyholt DR; Pellikka N; Perola M; Perry JR; Surakka I; Tammesoo ML; Altmaier EL; Amin N; Aspelund T; Bhangale T; Boucher G; Chasman DI; Chen C; Coin L; Cooper MN; Dixon AL; Gibson Q; Grundberg E; Hao K; Juhani Junttila M; Kaplan LM; Kettunen J; König IR; Kwan T; Lawrence RW; Levinson DF; Lorentzon M; McKnight B; Morris AP; Müller M; Suh Ngwa J; Purcell S; Rafelt S; Salem RM; Salvi E; Sanna S; Shi J; Sovio U; Thompson JR; Turchin MC; Vandenput L; Verlaan DJ; Vitart V; White CC; Ziegler A; Almgren P; Balmforth AJ; Campbell H; Citterio L; De Grandi A; Dominiczak A; Duan J; Elliott P; Elosua R; Eriksson JG; Freimer NB; Geus EJ; Glorioso N; Haiqing S; Hartikainen AL; Havulinna AS; Hicks AA; Hui J; Igl W; Illig T; Jula A; Kajantie E; Kilpeläinen TO; Koiranen M; Kolcic I; Koskinen S; Kovacs P; Laitinen J; Liu J; Lokki ML; Marusic A; Maschio A; Meitinger T; Mulas A; Paré G; Parker AN; Peden JF; Petersmann A; Pichler I; Pietiläinen KH; Pouta A; Ridderstråle M; Rotter JI; Sambrook JG; Sanders AR; Schmidt CO; Sinisalo J; Smit JH; Stringham HM; Bragi Walters G; Widen E; Wild SH; Willemsen G; Zagato L; Zgaga L; Zitting P; Alavere H; Farrall M; McArdle WL; Nelis M; Peters MJ; Ripatti S; van Meurs JB; Aben KK; Ardlie KG; Beckmann JS; Beilby JP; Bergman RN; Bergmann S; Collins FS; Cusi D; den Heijer M; Eiriksdottir G; Gejman PV; Hall AS; Hamsten A; Huikuri HV; Iribarren C; Kähönen M; Kaprio J; Kathiresan S; Kiemeney L; Kocher T; Launer LJ; Lehtimäki T; Melander O; Mosley TH; Musk AW; Nieminen MS; O'Donnell CJ; Ohlsson C; Oostra B; Palmer LJ; Raitakari O; Ridker PM; Rioux JD; Rissanen A; Rivolta C; Schunkert H; Shuldiner AR; Siscovick DS; Stumvoll M; Tönjes A; Tuomilehto J; van Ommen GJ; Viikari J; Heath AC; Martin NG; Montgomery GW; Province MA; Kayser M; Arnold AM; Atwood LD; Boerwinkle E; Chanock SJ; Deloukas P; Gieger C; Grönberg H; Hall P; Hattersley AT; Hengstenberg C; Hoffman W; Lathrop GM; Salomaa V; Schreiber S; Uda M; Waterworth D; Wright AF; Assimes TL; Barroso I; Hofman A; Mohlke KL; Boomsma DI; Caulfield MJ; Cupples LA; Erdmann J; Fox CS; Gudnason V; Gyllensten U; Harris TB; Hayes RB; Jarvelin MR; Mooser V; Munroe PB; Ouwehand WH; Penninx BW; Pramstaller PP; Quertermous T; Rudan I; Samani NJ; Spector TD; Völzke H; Watkins H; Wilson JF; Groop LC; Haritunians T; Hu FB; Kaplan RC; Metspalu A; North KE; Schlessinger D; Wareham NJ; Hunter DJ; O'Connell JR; Strachan DP; Wichmann HE; Borecki IB; van Duijn CM; Schadt EE; Thorsteinsdottir U; Peltonen L; Uitterlinden AG; Visscher PM; Chatterjee N; Loos RJ; Boehnke M; McCarthy MI; Ingelsson E; Lindgren CM; Abecasis GR; Stefansson K; Frayling TM; Hirschhorn JN (2010)
Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants ...
Genome-wide association analysis identifies multiple loci related to resting heart rate

Eijgelsheim M; Newton-Cheh C; Sotoodehnia N; de Bakker PI; Müller M; Morrison AC; Smith AV; Isaacs A; Sanna S; Dörr M; Navarro P; Fuchsberger C; Nolte IM; de Geus EJ; Estrada K; Hwang SJ; Bis JC; Rückert IM; Alonso A; Launer LJ; Hottenga JJ; Rivadeneira F; Noseworthy PA; Rice KM; Perz S; Arking DE; Spector TD; Kors JA; Aulchenko YS; Tarasov KV; Homuth G; Wild SH; Marroni F; Gieger C; Licht CM; Prineas RJ; Hofman A; Rotter JI; Hicks AA; Ernst F; Najjar SS; Wright AF; Peters A; Fox ER; Oostra BA; Kroemer HK; Couper D; Völzke H; Campbell H; Meitinger T; Uda M; Witteman JC; Psaty BM; Wichmann HE; Harris TB; Kääb S; Siscovick DS; Jamshidi Y; Uitterlinden AG; Folsom AR; Larson MG; Wilson JF; Penninx BW; Snieder H; Pramstaller PP; van Duijn CM; Lakatta EG; Felix SB; Gudnason V; Pfeufer A; Heckbert SR; Stricker BH; Boerwinkle E; O'Donnell CJ (2010)
Higher resting heart rate is associated with increased cardiovascular disease and mortality risk. Though heritable factors play a substantial role in population variation, little is known about specific genetic determinants. ...
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

Köttgen A; Albrecht E; Teumer A; Vitart V; Krumsiek J; Hundertmark C; Pistis G; Ruggiero D; O'Seaghdha CM; Haller T; Yang Q; Tanaka T; Johnson AD; Kutalik Z; Smith AV; Shi J; Struchalin M; Middelberg RP; Brown MJ; Gaffo AL; Pirastu N; Li G; Hayward C; Zemunik T; Huffman J; Yengo L; Zhao JH; Demirkan A; Feitosa MF; Liu X; Malerba G; Lopez LM; van der Harst P; Li X; Kleber ME; Hicks AA; Nolte IM; Johansson A; Murgia F; Wild SH; Bakker SJ; Peden JF; Dehghan A; Steri M; Tenesa A; Lagou V; Salo P; Mangino M; Rose LM; Lehtimäki T; Woodward OM; Okada Y; Tin A; Müller C; Oldmeadow C; Putku M; Czamara D; Kraft P; Frogheri L; Thun GA; Grotevendt A; Gislason GK; Harris TB; Launer LJ; McArdle P; Shuldiner AR; Boerwinkle E; Coresh J; Schmidt H; Schallert M; Martin NG; Montgomery GW; Kubo M; Nakamura Y; Munroe PB; Samani NJ; Jacobs DR; Liu K; D'Adamo P; Ulivi S; Rotter JI; Psaty BM; Vollenweider P; Waeber G; Campbell S; Devuyst O; Navarro P; Kolcic I; Hastie N; Balkau B; Froguel P; Esko T; Salumets A; Khaw KT; Langenberg C; Wareham NJ; Isaacs A; Kraja A; Zhang Q; Wild PS; Scott RJ; Holliday EG; Org E; Viigimaa M; Bandinelli S; Metter JE; Lupo A; Trabetti E; Sorice R; Döring A; Lattka E; Strauch K; Theis F; Waldenberger M; Wichmann HE; Davies G; Gow AJ; Bruinenberg M; LifeLines Cohort Study; Stolk RP; Kooner JS; Zhang W; Winkelmann BR; Boehm BO; Lucae S; Penninx BW; Smit JH; Curhan G; Mudgal P; Plenge RM; Portas L; Persico I; Kirin M; Wilson JF; Mateo Leach I; van Gilst WH; Goel A; Ongen H; Hofman A; Rivadeneira F; Uitterlinden AG; Imboden M; von Eckardstein A; Cucca F; Nagaraja R; Piras MG; Nauck M; Schurmann C; Budde K; Ernst F; Farrington SM; Theodoratou E; Prokopenko I; Stumvoll M; Jula A; Perola M; Salomaa V; Shin SY; Spector TD; Sala C; Ridker PM; Kähönen M; Viikari J; Hengstenberg C; Nelson CP; CARDIoGRAM Consortium; DIAGRAM Consortium; ICBP Consortium; MAGIC Consortium; Meschia JF; Nalls MA; Sharma P; Singleton AB; Kamatani N; Zeller T; Burnier M; Attia J; Laan M; Klopp N; Hillege HL; Kloiber S; Choi H; Pirastu M; Tore S; Probst-Hensch NM; Völzke H; Gudnason V; Parsa A; Schmidt R; Whitfield JB; Fornage M; Gasparini P; Siscovick DS; Polašek O; Campbell H; Rudan I; Bouatia-Naji N; Metspalu A; Loos RJ; van Duijn CM; Borecki IB; Ferrucci L; Gambaro G; Deary IJ; Wolffenbuttel BH; Chambers JC; März W; Pramstaller PP; Snieder H; Gyllensten U; Wright AF; Navis G; Watkins H; Witteman JC; Sanna S; Schipf S; Dunlop MG; Tönjes A; Ripatti S; Soranzo N; Toniolo D; Chasman DI; Raitakari O; Kao WH; Ciullo M; Fox CS; Caulfield M; Bochud M; Gieger C (2013)
Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we ...
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

Chasman DI; Fuchsberger C; Pattaro C; Teumer A; Böger CA; Endlich K; Olden M; Chen MH; Tin A; Taliun D; Li M; Gao X; Gorski M; Yang Q; Hundertmark C; Foster MC; O'Seaghdha CM; Glazer N; Isaacs A; Liu CT; Smith AV; O'Connell JR; Struchalin M; Tanaka T; Li G; Johnson AD; Gierman HJ; Feitosa MF; Hwang SJ; Atkinson EJ; Lohman K; Cornelis MC; Johansson A; Tönjes A; Dehghan A; Lambert JC; Holliday EG; Sorice R; Kutalik Z; Lehtimäki T; Esko T; Deshmukh H; Ulivi S; Chu AY; Murgia F; Trompet S; Imboden M; Coassin S; Pistis G; CARDIoGRAM Consortium; ICBP Consortium; CARe Consortium; WTCCC2; Harris TB; Launer LJ; Aspelund T; Eiriksdottir G; Mitchell BD; Boerwinkle E; Schmidt H; Cavalieri M; Rao M; Hu F; Demirkan A; Oostra BA; de Andrade M; Turner ST; Ding J; Andrews JS; Freedman BI; Giulianini F; Koenig W; Illig T; Meisinger C; Gieger C; Zgaga L; Zemunik T; Boban M; Minelli C; Wheeler HE; Igl W; Zaboli G; Wild SH; Wright AF; Campbell H; Ellinghaus D; Nöthlings U; Jacobs G; Biffar R; Ernst F; Homuth G; Kroemer HK; Nauck M; Stracke S; Völker U; Völzke H; Kovacs P; Stumvoll M; Mägi R; Hofman A; Uitterlinden AG; Rivadeneira F; Aulchenko YS; Polasek O; Hastie N; Vitart V; Helmer C; Wang JJ; Stengel B; Ruggiero D; Bergmann S; Kähönen M; Viikari J; Nikopensius T; Province M; Ketkar S; Colhoun H; Doney A; Robino A; Krämer BK; Portas L; Ford I; Buckley BM; Adam M; Thun GA; Paulweber B; Haun M; Sala C; Mitchell P; Ciullo M; Kim SK; Vollenweider P; Raitakari O; Metspalu A; Palmer C; Gasparini P; Pirastu M; Jukema JW; Probst-Hensch NM; Kronenberg F; Toniolo D; Gudnason V; Shuldiner AR; Coresh J; Schmidt R; Ferrucci L; Siscovick DS; van Duijn CM; Borecki IB; Kardia SL; Liu Y; Curhan GC; Rudan I; Gyllensten U; Wilson JF; Franke A; Pramstaller PP; Rettig R; Prokopenko I; Witteman J; Hayward C; Ridker PM; Parsa A; Bochud M; Heid IM; Kao WH; Fox CS; Köttgen A (2012)
In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits. To discover novel associations with estimated ...
Genome-wide association and functional follow-up reveals new loci for kidney function

Pattaro C; Köttgen A; Teumer A; Garnaas M; Böger CA; Fuchsberger C; Olden M; Chen MH; Tin A; Taliun D; Li M; Gao X; Gorski M; Yang Q; Hundertmark C; Foster MC; O'Seaghdha CM; Glazer N; Isaacs A; Liu CT; Smith AV; O'Connell JR; Struchalin M; Tanaka T; Li G; Johnson AD; Gierman HJ; Feitosa M; Hwang SJ; Atkinson EJ; Lohman K; Cornelis MC; Johansson Å; Tönjes A; Dehghan A; Chouraki V; Holliday EG; Sorice R; Kutalik Z; Lehtimäki T; Esko T; Deshmukh H; Ulivi S; Chu AY; Murgia F; Trompet S; Imboden M; Kollerits B; Pistis G; CARDIoGRAM Consortium; ICBP Consortium; CARe Consortium; Wellcome Trust Case Control Consortium 2; Harris TB; Launer LJ; Aspelund T; Eiriksdottir G; Mitchell BD; Boerwinkle E; Schmidt H; Cavalieri M; Rao M; Hu FB; Demirkan A; Oostra BA; de Andrade M; Turner ST; Ding J; Andrews JS; Freedman BI; Koenig W; Illig T; Döring A; Wichmann HE; Kolcic I; Zemunik T; Boban M; Minelli C; Wheeler HE; Igl W; Zaboli G; Wild SH; Wright AF; Campbell H; Ellinghaus D; Nöthlings U; Jacobs G; Biffar R; Endlich K; Ernst F; Homuth G; Kroemer HK; Nauck M; Stracke S; Völker U; Völzke H; Kovacs P; Stumvoll M; Mägi R; Hofman A; Uitterlinden AG; Rivadeneira F; Aulchenko YS; Polasek O; Hastie N; Vitart V; Helmer C; Wang JJ; Ruggiero D; Bergmann S; Kähönen M; Viikari J; Nikopensius T; Province M; Ketkar S; Colhoun H; Doney A; Robino A; Giulianini F; Krämer BK; Portas L; Ford I; Buckley BM; Adam M; Thun GA; Paulweber B; Haun M; Sala C; Metzger M; Mitchell P; Ciullo M; Kim SK; Vollenweider P; Raitakari O; Metspalu A; Palmer C; Gasparini P; Pirastu M; Jukema JW; Probst-Hensch NM; Kronenberg F; Toniolo D; Gudnason V; Shuldiner AR; Coresh J; Schmidt R; Ferrucci L; Siscovick DS; van Duijn CM; Borecki I; Kardia SL; Liu Y; Curhan GC; Rudan I; Gyllensten U; Wilson JF; Franke A; Pramstaller PP; Rettig R; Prokopenko I; Witteman JC; Hayward C; Ridker P; Parsa A; Bochud M; Heid IM; Goessling W; Chasman DI; Kao WH; Fox CS (2012)
Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD ...
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 ...

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Common variants in Mendelian kidney disease genes and their association with renal function

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Genome-wide association analysis identifies multiple loci related to resting heart rate

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

Genome-wide association and functional follow-up reveals new loci for kidney function

Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts