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Page 1
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C, Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T, Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD, Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu E, Smith AV, Stolk L, Teumer A, Tšernikova N, Tikkanen E, Ulivi S, Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga JJ, Koller DL, Mangino M, Pers TH, Yerges-Armstrong LM, Zhao JH, Andrulis IL, Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J, Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H, Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G, Collée JM, Couch FJ, Couper D, Coveillo AD, Cox A, Czene K, D'adamo AP, Smith GD, De Vivo I, Demerath EW, Dennis J, Devilee P, Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L, Garcia ME, García-Closas M, Geller F, de Geus EE, Giles GG, Gudbjartsson DF, Gudnason V, Guénel P, Guo S, Hall P, Hamann U, Haring R, Hartman CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu FB, Hunter DJ, Karasik D, Kiel DP, Knight JA, Kosma VM, Kutalik Z, Lai S, Lambrechts D, Lindbl… See abstract for full author list ➔ Perry JR, et al. Among authors: porcu e. Nature. 2014 Oct 2;514(7520):92-97. doi: 10.1038/nature13545. Epub 2014 Jul 23. Nature. 2014. PMID: 25231870 Free PMC article.
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
Sanna S, Pitzalis M, Zoledziewska M, Zara I, Sidore C, Murru R, Whalen MB, Busonero F, Maschio A, Costa G, Melis MC, Deidda F, Poddie F, Morelli L, Farina G, Li Y, Dei M, Lai S, Mulas A, Cuccuru G, Porcu E, Liang L, Zavattari P, Moi L, Deriu E, Urru MF, Bajorek M, Satta MA, Cocco E, Ferrigno P, Sotgiu S, Pugliatti M, Traccis S, Angius A, Melis M, Rosati G, Abecasis GR, Uda M, Marrosu MG, Schlessinger D, Cucca F. Sanna S, et al. Among authors: porcu e. Nat Genet. 2010 Jun;42(6):495-7. doi: 10.1038/ng.584. Epub 2010 May 9. Nat Genet. 2010. PMID: 20453840 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.
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.
Pichler I, Minelli C, Sanna S, Tanaka T, Schwienbacher C, Naitza S, Porcu E, Pattaro C, Busonero F, Zanon A, Maschio A, Melville SA, Grazia Piras M, Longo DL, Guralnik J, Hernandez D, Bandinelli S, Aigner E, Murphy AT, Wroblewski V, Marroni F, Theurl I, Gnewuch C, Schadt E, Mitterer M, Schlessinger D, Ferrucci L, Witcher DR, Hicks AA, Weiss G, Uda M, Pramstaller PP. Pichler I, et al. Among authors: porcu e. Hum Mol Genet. 2011 Mar 15;20(6):1232-40. doi: 10.1093/hmg/ddq552. Epub 2010 Dec 28. Hum Mol Genet. 2011. PMID: 21208937 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.
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
Naitza S, Porcu E, Steri M, Taub DD, Mulas A, Xiao X, Strait J, Dei M, Lai S, Busonero F, Maschio A, Usala G, Zoledziewska M, Sidore C, Zara I, Pitzalis M, Loi A, Virdis F, Piras R, Deidda F, Whalen MB, Crisponi L, Concas A, Podda C, Uzzau S, Scheet P, Longo DL, Lakatta E, Abecasis GR, Cao A, Schlessinger D, Uda M, Sanna S, Cucca F. Naitza S, et al. Among authors: porcu e. PLoS Genet. 2012 Jan;8(1):e1002480. doi: 10.1371/journal.pgen.1002480. Epub 2012 Jan 26. PLoS Genet. 2012. PMID: 22291609 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.
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 Jr, Deloukas P, Gottgens B, Soranzo N, Ouwehand WH. Nürnberg ST, et al. Blood. 2012 Dec 6;120(24):4859-68. doi: 10.1182/blood-2012-01-401893. Epub 2012 Sep 12. Blood. 2012. PMID: 22972982 Free PMC article.
255 results