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Page 1
Rare coding variants and X-linked loci associated with age at menarche.
Lunetta KL, Day FR, Sulem P, Ruth KS, Tung JY, Hinds DA, Esko T, Elks CE, Altmaier E, He C, Huffman JE, Mihailov E, Porcu E, Robino A, Rose LM, Schick UM, Stolk L, Teumer A, Thompson DJ, Traglia M, Wang CA, Yerges-Armstrong LM, Antoniou AC, Barbieri C, Coviello AD, Cucca F, Demerath EW, Dunning AM, Gandin I, Grove ML, Gudbjartsson DF, Hocking LJ, Hofman A, Huang J, Jackson RD, Karasik D, Kriebel J, Lange EM, Lange LA, Langenberg C, Li X, Luan J, Mägi R, Morrison AC, Padmanabhan S, Pirie A, Polasek O, Porteous D, Reiner AP, Rivadeneira F, Rudan I, Sala CF, Schlessinger D, Scott RA, Stöckl D, Visser JA, Völker U, Vozzi D, Wilson JG, Zygmunt M; EPIC-InterAct Consortium; Generation Scotland; Boerwinkle E, Buring JE, Crisponi L, Easton DF, Hayward C, Hu FB, Liu S, Metspalu A, Pennell CE, Ridker PM, Strauch K, Streeten EA, Toniolo D, Uitterlinden AG, Ulivi S, Völzke H, Wareham NJ, Wellons M, Franceschini N, Chasman DI, Thorsteinsdottir U, Murray A, Stefansson K, Murabito JM, Ong KK, Perry JR. Lunetta KL, et al. Among authors: porcu e. Nat Commun. 2015 Aug 4;6:7756. doi: 10.1038/ncomms8756. Nat Commun. 2015. PMID: 26239645 Free PMC article.
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
Soranzo N, Sanna S, Wheeler E, Gieger C, Radke D, Dupuis J, Bouatia-Naji N, Langenberg C, Prokopenko I, Stolerman E, Sandhu MS, Heeney MM, Devaney JM, Reilly MP, Ricketts SL, Stewart AF, Voight BF, Willenborg C, Wright B, Altshuler D, Arking D, Balkau B, Barnes D, Boerwinkle E, Böhm B, Bonnefond A, Bonnycastle LL, Boomsma DI, Bornstein SR, Böttcher Y, Bumpstead S, Burnett-Miller MS, Campbell H, Cao A, Chambers J, Clark R, Collins FS, Coresh J, de Geus EJ, Dei M, Deloukas P, Döring A, Egan JM, Elosua R, Ferrucci L, Forouhi N, Fox CS, Franklin C, Franzosi MG, Gallina S, Goel A, Graessler J, Grallert H, Greinacher A, Hadley D, Hall A, Hamsten A, Hayward C, Heath S, Herder C, Homuth G, Hottenga JJ, Hunter-Merrill R, Illig T, Jackson AU, Jula A, Kleber M, Knouff CW, Kong A, Kooner J, Köttgen A, Kovacs P, Krohn K, Kühnel B, Kuusisto J, Laakso M, Lathrop M, Lecoeur C, Li M, Li M, Loos RJ, Luan J, Lyssenko V, Mägi R, Magnusson PK, Mälarstig A, Mangino M, Martínez-Larrad MT, März W, McArdle WL, McPherson R, Meisinger C, Meitinger T, Melander O, Mohlke KL, Mooser VE, Morken MA, Narisu N, Nathan DM, Nauck M, O'Donnell C, Oexle K, Olla N, Pankow JS, Payne F, Peden JF, Pedersen NL, Peltonen L,… See abstract for full author list ➔ Soranzo N, et al. Among authors: porcu e. Diabetes. 2010 Dec;59(12):3229-39. doi: 10.2337/db10-0502. Epub 2010 Sep 21. Diabetes. 2010. PMID: 20858683 Free PMC article.
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
Elks CE, Perry JR, Sulem P, Chasman DI, Franceschini N, He C, Lunetta KL, Visser JA, Byrne EM, Cousminer DL, Gudbjartsson DF, Esko T, Feenstra B, Hottenga JJ, Koller DL, Kutalik Z, Lin P, Mangino M, Marongiu M, McArdle PF, Smith AV, Stolk L, van Wingerden SH, Zhao JH, Albrecht E, Corre T, Ingelsson E, Hayward C, Magnusson PK, Smith EN, Ulivi S, Warrington NM, Zgaga L, Alavere H, Amin N, Aspelund T, Bandinelli S, Barroso I, Berenson GS, Bergmann S, Blackburn H, Boerwinkle E, Buring JE, Busonero F, Campbell H, Chanock SJ, Chen W, Cornelis MC, Couper D, Coviello AD, d'Adamo P, de Faire U, de Geus EJ, Deloukas P, Döring A, Smith GD, Easton DF, Eiriksdottir G, Emilsson V, Eriksson J, Ferrucci L, Folsom AR, Foroud T, Garcia M, Gasparini P, Geller F, Gieger C; GIANT Consortium; Gudnason V, Hall P, Hankinson SE, Ferreli L, Heath AC, Hernandez DG, Hofman A, Hu FB, Illig T, Järvelin MR, Johnson AD, Karasik D, Khaw KT, Kiel DP, Kilpeläinen TO, Kolcic I, Kraft P, Launer LJ, Laven JS, Li S, Liu J, Levy D, Martin NG, McArdle WL, Melbye M, Mooser V, Murray JC, Murray SS, Nalls MA, Navarro P, Nelis M, Ness AR, Northstone K, Oostra BA, Peacock M, Palmer LJ, Palotie A, Paré G, Parker AN, Pedersen N… See abstract for full author list ➔ Elks CE, et al. Among authors: porcu e. Nat Genet. 2010 Dec;42(12):1077-85. doi: 10.1038/ng.714. Nat Genet. 2010. PMID: 21102462 Free PMC article.
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, St… See abstract for full author list ➔ Gieger C, et al. Among authors: porcu e. Nature. 2011 Nov 30;480(7376):201-8. doi: 10.1038/nature10659. Nature. 2011. PMID: 22139419 Free PMC article.
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
Stolk L, Perry JR, Chasman DI, He C, Mangino M, Sulem P, Barbalic M, Broer L, Byrne EM, Ernst F, Esko T, Franceschini N, Gudbjartsson DF, Hottenga JJ, Kraft P, McArdle PF, Porcu E, Shin SY, Smith AV, van Wingerden S, Zhai G, Zhuang WV, Albrecht E, Alizadeh BZ, Aspelund T, Bandinelli S, Lauc LB, Beckmann JS, Boban M, Boerwinkle E, Broekmans FJ, Burri A, Campbell H, Chanock SJ, Chen C, Cornelis MC, Corre T, Coviello AD, d'Adamo P, Davies G, de Faire U, de Geus EJ, Deary IJ, Dedoussis GV, Deloukas P, Ebrahim S, Eiriksdottir G, Emilsson V, Eriksson JG, Fauser BC, Ferreli L, Ferrucci L, Fischer K, Folsom AR, Garcia ME, Gasparini P, Gieger C, Glazer N, Grobbee DE, Hall P, Haller T, Hankinson SE, Hass M, Hayward C, Heath AC, Hofman A, Ingelsson E, Janssens AC, Johnson AD, Karasik D, Kardia SL, Keyzer J, Kiel DP, Kolcic I, Kutalik Z, Lahti J, Lai S, Laisk T, Laven JS, Lawlor DA, Liu J, Lopez LM, Louwers YV, Magnusson PK, Marongiu M, Martin NG, Klaric IM, Masciullo C, McKnight B, Medland SE, Melzer D, Mooser V, Navarro P, Newman AB, Nyholt DR, Onland-Moret NC, Palotie A, Paré G, Parker AN, Pedersen NL, Peeters PH, Pistis G, Plump AS, Polasek O, Pop VJ, Psaty BM, Räikkönen K, Rehnber… See abstract for full author list ➔ Stolk L, et al. Among authors: porcu e. Nat Genet. 2012 Jan 22;44(3):260-8. doi: 10.1038/ng.1051. Nat Genet. 2012. PMID: 22267201 Free PMC article.
Reproductive aging-associated common genetic variants and the risk of breast cancer.
He C, Chasman DI, Dreyfus J, Hwang SJ, Ruiter R, Sanna S, Buring JE, Fernández-Rhodes L, Franceschini N, Hankinson SE, Hofman A, Lunetta KL, Palmieri G, Porcu E, Rivadeneira F, Rose LM, Splansky GL, Stolk L, Uitterlinden AG, Chanock SJ, Crisponi L, Demerath EW, Murabito JM, Ridker PM, Stricker BH, Hunter DJ. He C, et al. Among authors: porcu e. Breast Cancer Res. 2012 Mar 20;14(2):R54. doi: 10.1186/bcr3155. Breast Cancer Res. 2012. PMID: 22433456 Free PMC article.
Seventy-five genetic loci influencing the human red blood cell.
van der Harst P, Zhang W, Mateo Leach I, Rendon A, Verweij N, Sehmi J, Paul DS, Elling U, Allayee H, Li X, Radhakrishnan A, Tan ST, Voss K, Weichenberger CX, Albers CA, Al-Hussani A, Asselbergs FW, Ciullo M, Danjou F, Dina C, Esko T, Evans DM, Franke L, Gögele M, Hartiala J, Hersch M, Holm H, Hottenga JJ, Kanoni S, Kleber ME, Lagou V, Langenberg C, Lopez LM, Lyytikäinen LP, Melander O, Murgia F, Nolte IM, O'Reilly PF, Padmanabhan S, Parsa A, Pirastu N, Porcu E, Portas L, Prokopenko I, Ried JS, Shin SY, Tang CS, Teumer A, Traglia M, Ulivi S, Westra HJ, Yang J, Zhao JH, Anni F, Abdellaoui A, Attwood A, Balkau B, Bandinelli S, Bastardot F, Benyamin B, Boehm BO, Cookson WO, Das D, de Bakker PI, de Boer RA, de Geus EJ, de Moor MH, Dimitriou M, Domingues FS, Döring A, Engström G, Eyjolfsson GI, Ferrucci L, Fischer K, Galanello R, Garner SF, Genser B, Gibson QD, Girotto G, Gudbjartsson DF, Harris SE, Hartikainen AL, Hastie CE, Hedblad B, Illig T, Jolley J, Kähönen M, Kema IP, Kemp JP, Liang L, Lloyd-Jones H, Loos RJ, Meacham S, Medland SE, Meisinger C, Memari Y, Mihailov E, Miller K, Moffatt MF, Nauck M, Novatchkova M, Nutile T, Olafsson I, Onundarson PT, Parracciani D, Penninx BW… See abstract for full author list ➔ van der Harst P, et al. Among authors: porcu e. Nature. 2012 Dec 20;492(7429):369-75. doi: 10.1038/nature11677. Epub 2012 Dec 5. Nature. 2012. PMID: 23222517 Free PMC article.
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
Porcu E, Medici M, Pistis G, Volpato CB, Wilson SG, Cappola AR, Bos SD, Deelen J, den Heijer M, Freathy RM, Lahti J, Liu C, Lopez LM, Nolte IM, O'Connell JR, Tanaka T, Trompet S, Arnold A, Bandinelli S, Beekman M, Böhringer S, Brown SJ, Buckley BM, Camaschella C, de Craen AJ, Davies G, de Visser MC, Ford I, Forsen T, Frayling TM, Fugazzola L, Gögele M, Hattersley AT, Hermus AR, Hofman A, Houwing-Duistermaat JJ, Jensen RA, Kajantie E, Kloppenburg M, Lim EM, Masciullo C, Mariotti S, Minelli C, Mitchell BD, Nagaraja R, Netea-Maier RT, Palotie A, Persani L, Piras MG, Psaty BM, Räikkönen K, Richards JB, Rivadeneira F, Sala C, Sabra MM, Sattar N, Shields BM, Soranzo N, Starr JM, Stott DJ, Sweep FC, Usala G, van der Klauw MM, van Heemst D, van Mullem A, Vermeulen SH, Visser WE, Walsh JP, Westendorp RG, Widen E, Zhai G, Cucca F, Deary IJ, Eriksson JG, Ferrucci L, Fox CS, Jukema JW, Kiemeney LA, Pramstaller PP, Schlessinger D, Shuldiner AR, Slagboom EP, Uitterlinden AG, Vaidya B, Visser TJ, Wolffenbuttel BH, Meulenbelt I, Rotter JI, Spector TD, Hicks AA, Toniolo D, Sanna S, Peeters RP, Naitza S. Porcu E, et al. PLoS Genet. 2013;9(2):e1003266. doi: 10.1371/journal.pgen.1003266. Epub 2013 Feb 7. PLoS Genet. 2013. PMID: 23408906 Free PMC article.
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
Cousminer DL, Berry DJ, Timpson NJ, Ang W, Thiering E, Byrne EM, Taal HR, Huikari V, Bradfield JP, Kerkhof M, Groen-Blokhuis MM, Kreiner-Møller E, Marinelli M, Holst C, Leinonen JT, Perry JR, Surakka I, Pietiläinen O, Kettunen J, Anttila V, Kaakinen M, Sovio U, Pouta A, Das S, Lagou V, Power C, Prokopenko I, Evans DM, Kemp JP, St Pourcain B, Ring S, Palotie A, Kajantie E, Osmond C, Lehtimäki T, Viikari JS, Kähönen M, Warrington NM, Lye SJ, Palmer LJ, Tiesler CM, Flexeder C, Montgomery GW, Medland SE, Hofman A, Hakonarson H, Guxens M, Bartels M, Salomaa V; ReproGen Consortium; Murabito JM, Kaprio J, Sørensen TI, Ballester F, Bisgaard H, Boomsma DI, Koppelman GH, Grant SF, Jaddoe VW, Martin NG, Heinrich J, Pennell CE, Raitakari OT, Eriksson JG, Smith GD, Hyppönen E, Järvelin MR, McCarthy MI, Ripatti S, Widén E; Early Growth Genetics (EGG) Consortium. Cousminer DL, et al. Hum Mol Genet. 2013 Jul 1;22(13):2735-47. doi: 10.1093/hmg/ddt104. Epub 2013 Feb 27. Hum Mol Genet. 2013. PMID: 23449627 Free PMC article.
Association of adiposity genetic variants with menarche timing in 92,105 women of European descent.
Fernández-Rhodes L, Demerath EW, Cousminer DL, Tao R, Dreyfus JG, Esko T, Smith AV, Gudnason V, Harris TB, Launer L, McArdle PF, Yerges-Armstrong LM, Elks CE, Strachan DP, Kutalik Z, Vollenweider P, Feenstra B, Boyd HA, Metspalu A, Mihailov E, Broer L, Zillikens MC, Oostra B, van Duijn CM, Lunetta KL, Perry JR, Murray A, Koller DL, Lai D, Corre T, Toniolo D, Albrecht E, Stöckl D, Grallert H, Gieger C, Hayward C, Polasek O, Rudan I, Wilson JF, He C, Kraft P, Hu FB, Hunter DJ, Hottenga JJ, Willemsen G, Boomsma DI, Byrne EM, Martin NG, Montgomery GW, Warrington NM, Pennell CE, Stolk L, Visser JA, Hofman A, Uitterlinden AG, Rivadeneira F, Lin P, Fisher SL, Bierut LJ, Crisponi L, Porcu E, Mangino M, Zhai G, Spector TD, Buring JE, Rose LM, Ridker PM, Poole C, Hirschhorn JN, Murabito JM, Chasman DI, Widen E, North KE, Ong KK, Franceschini N. Fernández-Rhodes L, et al. Among authors: porcu e. Am J Epidemiol. 2013 Aug 1;178(3):451-60. doi: 10.1093/aje/kws473. Epub 2013 Apr 4. Am J Epidemiol. 2013. PMID: 23558354 Free PMC article.
256 results