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Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.
Day F, Karaderi T, Jones MR, Meun C, He C, Drong A, Kraft P, Lin N, Huang H, Broer L, Magi R, Saxena R, Laisk T, Urbanek M, Hayes MG, Thorleifsson G, Fernandez-Tajes J, Mahajan A, Mullin BH, Stuckey BGA, Spector TD, Wilson SG, Goodarzi MO, Davis L, Obermayer-Pietsch B, Uitterlinden AG, Anttila V, Neale BM, Jarvelin MR, Fauser B, Kowalska I, Visser JA, Andersen M, Ong K, Stener-Victorin E, Ehrmann D, Legro RS, Salumets A, McCarthy MI, Morin-Papunen L, Thorsteinsdottir U, Stefansson K; 23andMe Research Team, Styrkarsdottir U, Perry JRB, Dunaif A, Laven J, Franks S, Lindgren CM, Welt CK. Day F, et al. Among authors: styrkarsdottir u. PLoS Genet. 2018 Dec 19;14(12):e1007813. doi: 10.1371/journal.pgen.1007813. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30566500 Free PMC article.
Disentangling the genetics of lean mass.
Karasik D, Zillikens MC, Hsu YH, Aghdassi A, Akesson K, Amin N, Barroso I, Bennett DA, Bertram L, Bochud M, Borecki IB, Broer L, Buchman AS, Byberg L, Campbell H, Campos-Obando N, Cauley JA, Cawthon PM, Chambers JC, Chen Z, Cho NH, Choi HJ, Chou WC, Cummings SR, de Groot LCPGM, De Jager PL, Demuth I, Diatchenko L, Econs MJ, Eiriksdottir G, Enneman AW, Eriksson J, Eriksson JG, Estrada K, Evans DS, Feitosa MF, Fu M, Gieger C, Grallert H, Gudnason V, Lenore LJ, Hayward C, Hofman A, Homuth G, Huffman KM, Husted LB, Illig T, Ingelsson E, Ittermann T, Jansson JO, Johnson T, Biffar R, Jordan JM, Jula A, Karlsson M, Khaw KT, Kilpeläinen TO, Klopp N, Kloth JSL, Koller DL, Kooner JS, Kraus WE, Kritchevsky S, Kutalik Z, Kuulasmaa T, Kuusisto J, Laakso M, Lahti J, Lang T, Langdahl BL, Lerch MM, Lewis JR, Lill C, Lind L, Lindgren C, Liu Y, Livshits G, Ljunggren Ö, Loos RJF, Lorentzon M, Luan J, Luben RN, Malkin I, McGuigan FE, Medina-Gomez C, Meitinger T, Melhus H, Mellström D, Michaëlsson K, Mitchell BD, Morris AP, Mosekilde L, Nethander M, Newman AB, O'Connell JR, Oostra BA, Orwoll ES, Palotie A, Peacock M, Perola M, Peters A, Prince RL, Psaty BM, Räikkönen K, Ralston SH, Ripatti S, Rivadeneira F, Robbins JA, Rotter JI, Rudan I, Salomaa V, Satterfield S, Schipf S, Shin CS, Smith AV, Smith SB, Soranzo N, Spector TD, Stancáková A, Stefansson K, Steinhagen-Thiessen E, Stolk L, Streeten EA, Styrkarsdottir U, Swart KMA, Thompson P, Thomson CA, Thorleifsson G, Thorsteinsdottir U, Tikkanen E, Tranah GJ, Uitterlinden AG, van Duijn CM, van Schoor NM, Vandenput L, Vollenweider P, Völzke H, Wactawski-Wende J, Walker M, J Wareham N, Waterworth D, Weedon MN, Wichmann HE, Widen E, Williams FMK, Wilson JF, Wright NC, Yerges-Armstrong LM, Yu L, Zhang W, Zhao JH, Zhou Y, Nielson CM, Harris TB, Demissie S, Kiel DP, Ohlsson C. Karasik D, et al. Among authors: styrkarsdottir u. Am J Clin Nutr. 2019 Feb 1;109(2):276-287. doi: 10.1093/ajcn/nqy272. Am J Clin Nutr. 2019. PMID: 30721968 Free PMC article.
GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.
Styrkarsdottir U, Stefansson OA, Gunnarsdottir K, Thorleifsson G, Lund SH, Stefansdottir L, Juliusson K, Agustsdottir AB, Zink F, Halldorsson GH, Ivarsdottir EV, Benonisdottir S, Jonsson H, Gylfason A, Norland K, Trajanoska K, Boer CG, Southam L, Leung JCS, Tang NLS, Kwok TCY, Lee JSW, Ho SC, Byrjalsen I, Center JR, Lee SH, Koh JM, Lohmander LS, Ho-Pham LT, Nguyen TV, Eisman JA, Woo J, Leung PC, Loughlin J, Zeggini E, Christiansen C, Rivadeneira F, van Meurs J, Uitterlinden AG, Mogensen B, Jonsson H, Ingvarsson T, Sigurdsson G, Benediktsson R, Sulem P, Jonsdottir I, Masson G, Holm H, Norddahl GL, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K. Styrkarsdottir U, et al. Nat Commun. 2019 May 3;10(1):2054. doi: 10.1038/s41467-019-09860-0. Nat Commun. 2019. PMID: 31053729 Free PMC article.
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Zheng HF, Forgetta V, Hsu YH, Estrada K, Rosello-Diez A, Leo PJ, Dahia CL, Park-Min KH, Tobias JH, Kooperberg C, Kleinman A, Styrkarsdottir U, Liu CT, Uggla C, Evans DS, Nielson CM, Walter K, Pettersson-Kymmer U, McCarthy S, Eriksson J, Kwan T, Jhamai M, Trajanoska K, Memari Y, Min J, Huang J, Danecek P, Wilmot B, Li R, Chou WC, Mokry LE, Moayyeri A, Claussnitzer M, Cheng CH, Cheung W, Medina-Gómez C, Ge B, Chen SH, Choi K, Oei L, Fraser J, Kraaij R, Hibbs MA, Gregson CL, Paquette D, Hofman A, Wibom C, Tranah GJ, Marshall M, Gardiner BB, Cremin K, Auer P, Hsu L, Ring S, Tung JY, Thorleifsson G, Enneman AW, van Schoor NM, de Groot LC, van der Velde N, Melin B, Kemp JP, Christiansen C, Sayers A, Zhou Y, Calderari S, van Rooij J, Carlson C, Peters U, Berlivet S, Dostie J, Uitterlinden AG, Williams SR, Farber C, Grinberg D, LaCroix AZ, Haessler J, Chasman DI, Giulianini F, Rose LM, Ridker PM, Eisman JA, Nguyen TV, Center JR, Nogues X, Garcia-Giralt N, Launer LL, Gudnason V, Mellström D, Vandenput L, Amin N, van Duijn CM, Karlsson MK, Ljunggren Ö, Svensson O, Hallmans G, Rousseau F, Giroux S, Bussière J, Arp PP, Koromani F, Prince RL, Lewis JR, Langdahl BL, Hermann AP, Jensen JE, Kaptoge S, Khaw KT, Reeve J, Formosa MM, Xuereb-Anastasi A, Åkesson K, McGuigan FE, Garg G, Olmos JM, Zarrabeitia MT, Riancho JA, Ralston SH, Alonso N, Jiang X, Goltzman D, Pastinen T, Grundberg E, Gauguier D, Orwoll ES, Karasik D, Davey-Smith G; AOGC Consortium, Smith AV, Siggeirsdottir K, Harris TB, Zillikens MC, van Meurs JB, Thorsteinsdottir U, Maurano MT, Timpson NJ, Soranzo N, Durbin R, Wilson SG, Ntzani EE, Brown MA, Stefansson K, Hinds DA, Spector T, Cupples LA, Ohlsson C, Greenwood CM; UK10K Consortium, Jackson RD, Rowe DW, Loomis CA, Evans DM, Ackert-Bicknell CL, Joyner AL, Duncan EL, Kiel DP, Rivadeneira F, Richards JB. Zheng HF, et al. Among authors: styrkarsdottir u. Nature. 2015 Oct 1;526(7571):112-7. doi: 10.1038/nature14878. Epub 2015 Sep 14. Nature. 2015. PMID: 26367794 Free PMC article.
Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.
Zengini E, Hatzikotoulas K, Tachmazidou I, Steinberg J, Hartwig FP, Southam L, Hackinger S, Boer CG, Styrkarsdottir U, Gilly A, Suveges D, Killian B, Ingvarsson T, Jonsson H, Babis GC, McCaskie A, Uitterlinden AG, van Meurs JBJ, Thorsteinsdottir U, Stefansson K, Davey Smith G, Wilkinson JM, Zeggini E. Zengini E, et al. Among authors: styrkarsdottir u. Nat Genet. 2018 Apr;50(4):549-558. doi: 10.1038/s41588-018-0079-y. Epub 2018 Mar 20. Nat Genet. 2018. PMID: 29559693 Free PMC article.
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.
Zillikens MC, Demissie S, Hsu YH, Yerges-Armstrong LM, Chou WC, Stolk L, Livshits G, Broer L, Johnson T, Koller DL, Kutalik Z, Luan J, Malkin I, Ried JS, Smith AV, Thorleifsson G, Vandenput L, Hua Zhao J, Zhang W, Aghdassi A, Åkesson K, Amin N, Baier LJ, Barroso I, Bennett DA, Bertram L, Biffar R, Bochud M, Boehnke M, Borecki IB, Buchman AS, Byberg L, Campbell H, Campos Obanda N, Cauley JA, Cawthon PM, Cederberg H, Chen Z, Cho NH, Jin Choi H, Claussnitzer M, Collins F, Cummings SR, De Jager PL, Demuth I, Dhonukshe-Rutten RAM, Diatchenko L, Eiriksdottir G, Enneman AW, Erdos M, Eriksson JG, Eriksson J, Estrada K, Evans DS, Feitosa MF, Fu M, Garcia M, Gieger C, Girke T, Glazer NL, Grallert H, Grewal J, Han BG, Hanson RL, Hayward C, Hofman A, Hoffman EP, Homuth G, Hsueh WC, Hubal MJ, Hubbard A, Huffman KM, Husted LB, Illig T, Ingelsson E, Ittermann T, Jansson JO, Jordan JM, Jula A, Karlsson M, Khaw KT, Kilpeläinen TO, Klopp N, Kloth JSL, Koistinen HA, Kraus WE, Kritchevsky S, Kuulasmaa T, Kuusisto J, Laakso M, Lahti J, Lang T, Langdahl BL, Launer LJ, Lee JY, Lerch MM, Lewis JR, Lind L, Lindgren C, Liu Y, Liu T, Liu Y, Ljunggren Ö, Lorentzon M, Luben RN, Maixner W, McGuigan FE, Medina-Gomez C, Meitinger T, Melhus H, Mellström D, Melov S, Michaëlsson K, Mitchell BD, Morris AP, Mosekilde L, Newman A, Nielson CM, O'Connell JR, Oostra BA, Orwoll ES, Palotie A, Parker SCJ, Peacock M, Perola M, Peters A, Polasek O, Prince RL, Räikkönen K, Ralston SH, Ripatti S, Robbins JA, Rotter JI, Rudan I, Salomaa V, Satterfield S, Schadt EE, Schipf S, Scott L, Sehmi J, Shen J, Soo Shin C, Sigurdsson G, Smith S, Soranzo N, Stančáková A, Steinhagen-Thiessen E, Streeten EA, Styrkarsdottir U, Swart KMA, Tan ST, Tarnopolsky MA, Thompson P, Thomson CA, Thorsteinsdottir U, Tikkanen E, Tranah GJ, Tuomilehto J, van Schoor NM, Verma A, Vollenweider P, Völzke H, Wactawski-Wende J, Walker M, Weedon MN, Welch R, Wichmann HE, Widen E, Williams FMK, Wilson JF, Wright NC, Xie W, Yu L, Zhou Y, Chambers JC, Döring A, van Duijn CM, Econs MJ, Gudnason V, Kooner JS, Psaty BM, Spector TD, Stefansson K, Rivadeneira F, Uitterlinden AG, Wareham NJ, Ossowski V, Waterworth D, Loos RJF, Karasik D, Harris TB, Ohlsson C, Kiel DP. Zillikens MC, et al. Among authors: styrkarsdottir u. Nat Commun. 2017 Jul 19;8(1):80. doi: 10.1038/s41467-017-00031-7. Nat Commun. 2017. PMID: 28724990 Free PMC article.
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Estrada K, Styrkarsdottir U, Evangelou E, Hsu YH, Duncan EL, Ntzani EE, Oei L, Albagha OM, Amin N, Kemp JP, Koller DL, Li G, Liu CT, Minster RL, Moayyeri A, Vandenput L, Willner D, Xiao SM, Yerges-Armstrong LM, Zheng HF, Alonso N, Eriksson J, Kammerer CM, Kaptoge SK, Leo PJ, Thorleifsson G, Wilson SG, Wilson JF, Aalto V, Alen M, Aragaki AK, Aspelund T, Center JR, Dailiana Z, Duggan DJ, Garcia M, Garcia-Giralt N, Giroux S, Hallmans G, Hocking LJ, Husted LB, Jameson KA, Khusainova R, Kim GS, Kooperberg C, Koromila T, Kruk M, Laaksonen M, Lacroix AZ, Lee SH, Leung PC, Lewis JR, Masi L, Mencej-Bedrac S, Nguyen TV, Nogues X, Patel MS, Prezelj J, Rose LM, Scollen S, Siggeirsdottir K, Smith AV, Svensson O, Trompet S, Trummer O, van Schoor NM, Woo J, Zhu K, Balcells S, Brandi ML, Buckley BM, Cheng S, Christiansen C, Cooper C, Dedoussis G, Ford I, Frost M, Goltzman D, González-Macías J, Kähönen M, Karlsson M, Khusnutdinova E, Koh JM, Kollia P, Langdahl BL, Leslie WD, Lips P, Ljunggren Ö, Lorenc RS, Marc J, Mellström D, Obermayer-Pietsch B, Olmos JM, Pettersson-Kymmer U, Reid DM, Riancho JA, Ridker PM, Rousseau F, Slagboom PE, Tang NL, Urreizti R, Van Hul W, Viikari J, Zarrabeitia MT, Aulchenko YS, Castano-Betancourt M, Grundberg E, Herrera L, Ingvarsson T, Johannsdottir H, Kwan T, Li R, Luben R, Medina-Gómez C, Palsson ST, Reppe S, Rotter JI, Sigurdsson G, van Meurs JB, Verlaan D, Williams FM, Wood AR, Zhou Y, Gautvik KM, Pastinen T, Raychaudhuri S, Cauley JA, Chasman DI, Clark GR, Cummings SR, Danoy P, Dennison EM, Eastell R, Eisman JA, Gudnason V, Hofman A, Jackson RD, Jones G, Jukema JW, Khaw KT, Lehtimäki T, Liu Y, Lorentzon M, McCloskey E, Mitchell BD, Nandakumar K, Nicholson GC, Oostra BA, Peacock M, Pols HA, Prince RL, Raitakari O, Reid IR, Robbins J, Sambrook PN, Sham PC, Shuldiner AR, Tylavsky FA, van Duijn CM, Wareham NJ, Cupples LA, Econs MJ, Evans DM, Harris TB, Kung AW, Psaty BM, Reeve J, Spector TD, Streeten EA, Zillikens MC, Thorsteinsdottir U, Ohlsson C, Karasik D, Richards JB, Brown MA, Stefansson K, Uitterlinden AG, Ralston SH, Ioannidis JP, Kiel DP, Rivadeneira F. Estrada K, et al. Among authors: styrkarsdottir u. Nat Genet. 2012 Apr 15;44(5):491-501. doi: 10.1038/ng.2249. Nat Genet. 2012. PMID: 22504420 Free PMC article.
Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.
Medina-Gomez C, Kemp JP, Trajanoska K, Luan J, Chesi A, Ahluwalia TS, Mook-Kanamori DO, Ham A, Hartwig FP, Evans DS, Joro R, Nedeljkovic I, Zheng HF, Zhu K, Atalay M, Liu CT, Nethander M, Broer L, Porleifsson G, Mullin BH, Handelman SK, Nalls MA, Jessen LE, Heppe DHM, Richards JB, Wang C, Chawes B, Schraut KE, Amin N, Wareham N, Karasik D, Van der Velde N, Ikram MA, Zemel BS, Zhou Y, Carlsson CJ, Liu Y, McGuigan FE, Boer CG, Bønnelykke K, Ralston SH, Robbins JA, Walsh JP, Zillikens MC, Langenberg C, Li-Gao R, Williams FMK, Harris TB, Akesson K, Jackson RD, Sigurdsson G, den Heijer M, van der Eerden BCJ, van de Peppel J, Spector TD, Pennell C, Horta BL, Felix JF, Zhao JH, Wilson SG, de Mutsert R, Bisgaard H, Styrkársdóttir U, Jaddoe VW, Orwoll E, Lakka TA, Scott R, Grant SFA, Lorentzon M, van Duijn CM, Wilson JF, Stefansson K, Psaty BM, Kiel DP, Ohlsson C, Ntzani E, van Wijnen AJ, Forgetta V, Ghanbari M, Logan JG, Williams GR, Bassett JHD, Croucher PI, Evangelou E, Uitterlinden AG, Ackert-Bicknell CL, Tobias JH, Evans DM, Rivadeneira F. Medina-Gomez C, et al. Among authors: styrkarsdottir u. Am J Hum Genet. 2018 Jan 4;102(1):88-102. doi: 10.1016/j.ajhg.2017.12.005. Am J Hum Genet. 2018. PMID: 29304378 Free PMC article.
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
Rivadeneira F, Styrkársdottir U, Estrada K, Halldórsson BV, Hsu YH, Richards JB, Zillikens MC, Kavvoura FK, Amin N, Aulchenko YS, Cupples LA, Deloukas P, Demissie S, Grundberg E, Hofman A, Kong A, Karasik D, van Meurs JB, Oostra B, Pastinen T, Pols HA, Sigurdsson G, Soranzo N, Thorleifsson G, Thorsteinsdottir U, Williams FM, Wilson SG, Zhou Y, Ralston SH, van Duijn CM, Spector T, Kiel DP, Stefansson K, Ioannidis JP, Uitterlinden AG; Genetic Factors for Osteoporosis (GEFOS) Consortium. Rivadeneira F, et al. Among authors: styrkarsdottir u. Nat Genet. 2009 Nov;41(11):1199-206. doi: 10.1038/ng.446. Epub 2009 Oct 4. Nat Genet. 2009. PMID: 19801982 Free PMC article.
Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.
Styrkarsdottir U, Lund SH, Thorleifsson G, Zink F, Stefansson OA, Sigurdsson JK, Juliusson K, Bjarnadottir K, Sigurbjornsdottir S, Jonsson S, Norland K, Stefansdottir L, Sigurdsson A, Sveinbjornsson G, Oddsson A, Bjornsdottir G, Gudmundsson RL, Halldorsson GH, Rafnar T, Jonsdottir I, Steingrimsson E, Norddahl GL, Masson G, Sulem P, Jonsson H, Ingvarsson T, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K. Styrkarsdottir U, et al. Nat Genet. 2018 Dec;50(12):1681-1687. doi: 10.1038/s41588-018-0247-0. Epub 2018 Oct 29. Nat Genet. 2018. PMID: 30374069
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