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Page 1
Common genetic variants associated with open-angle glaucoma.
Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, Janssen SF, Jacoline TB, Amin N, Rivadeneira F, Wolfs RC, Walters GB, Jonasson F, Weisschuh N, Mardin CY, Gibson J, Zegers RH, Hofman A, de Jong PT, Uitterlinden AG, Oostra BA, Thorsteinsdottir U, Gramer E, Welgen-Lüssen UC, Kirwan JF, Bergen AA, Reis A, Stefansson K, Lotery AJ, Vingerling JR, Jansonius NM, Klaver CC, van Duijn CM. Ramdas WD, et al. Among authors: jonasson f. Hum Mol Genet. 2011 Jun 15;20(12):2464-71. doi: 10.1093/hmg/ddr120. Epub 2011 Mar 22. Hum Mol Genet. 2011. PMID: 21427129
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
Hysi PG, Cheng CY, Springelkamp H, Macgregor S, Bailey JNC, Wojciechowski R, Vitart V, Nag A, Hewitt AW, Höhn R, Venturini C, Mirshahi A, Ramdas WD, Thorleifsson G, Vithana E, Khor CC, Stefansson AB, Liao J, Haines JL, Amin N, Wang YX, Wild PS, Ozel AB, Li JZ, Fleck BW, Zeller T, Staffieri SE, Teo YY, Cuellar-Partida G, Luo X, Allingham RR, Richards JE, Senft A, Karssen LC, Zheng Y, Bellenguez C, Xu L, Iglesias AI, Wilson JF, Kang JH, van Leeuwen EM, Jonsson V, Thorsteinsdottir U, Despriet DDG, Ennis S, Moroi SE, Martin NG, Jansonius NM, Yazar S, Tai ES, Amouyel P, Kirwan J, van Koolwijk LME, Hauser MA, Jonasson F, Leo P, Loomis SJ, Fogarty R, Rivadeneira F, Kearns L, Lackner KJ, de Jong PTVM, Simpson CL, Pennell CE, Oostra BA, Uitterlinden AG, Saw SM, Lotery AJ, Bailey-Wilson JE, Hofman A, Vingerling JR, Maubaret C, Pfeiffer N, Wolfs RCW, Lemij HG, Young TL, Pasquale LR, Delcourt C, Spector TD, Klaver CCW, Small KS, Burdon KP, Stefansson K, Wong TY; BMES GWAS Group; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2; Viswanathan A, Mackey DA, Craig JE, Wiggs JL, van Duijn CM, Hammond CJ, Aung T. Hysi PG, et al. Among authors: jonasson f. Nat Genet. 2014 Oct;46(10):1126-1130. doi: 10.1038/ng.3087. Epub 2014 Aug 31. Nat Genet. 2014. PMID: 25173106 Free PMC article.
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, DeWan A, Sigurdsson A, Jonasdottir A, Gudjonsson SA, Magnusson KP, Stefansson H, Lam DS, Tam PO, Gudmundsdottir GJ, Southgate L, Burdon KP, Gottfredsdottir MS, Aldred MA, Mitchell P, St Clair D, Collier DA, Tang N, Sveinsson O, Macgregor S, Martin NG, Cree AJ, Gibson J, Macleod A, Jacob A, Ennis S, Young TL, Chan JC, Karwatowski WS, Hammond CJ, Thordarson K, Zhang M, Wadelius C, Lotery AJ, Trembath RC, Pang CP, Hoh J, Craig JE, Kong A, Mackey DA, Jonasson F, Thorsteinsdottir U, Stefansson K. Thorleifsson G, et al. Among authors: jonasson f. Nat Genet. 2010 Oct;42(10):906-9. doi: 10.1038/ng.661. Epub 2010 Sep 12. Nat Genet. 2010. PMID: 20835238 Free PMC article.
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor CC, Loomis SJ, Bailey JN, Gibson J, Thorleifsson G, Janssen SF, Luo X, Ramdas WD, Vithana E, Nongpiur ME, Montgomery GW, Xu L, Mountain JE, Gharahkhani P, Lu Y, Amin N, Karssen LC, Sim KS, van Leeuwen EM, Iglesias AI, Verhoeven VJ, Hauser MA, Loon SC, Despriet DD, Nag A, Venturini C, Sanfilippo PG, Schillert A, Kang JH, Landers J, Jonasson F, Cree AJ, van Koolwijk LM, Rivadeneira F, Souzeau E, Jonsson V, Menon G; Blue Mountains Eye Study—GWAS group; Weinreb RN, de Jong PT, Oostra BA, Uitterlinden AG, Hofman A, Ennis S, Thorsteinsdottir U, Burdon KP; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2 (WTCCC2); Spector TD, Mirshahi A, Saw SM, Vingerling JR, Teo YY, Haines JL, Wolfs RC, Lemij HG, Tai ES, Jansonius NM, Jonas JB, Cheng CY, Aung T, Viswanathan AC, Klaver CC, Craig JE, Macgregor S, Mackey DA, Lotery AJ, Stefansson K, Bergen AA, Young TL, Wiggs JL, Pfeiffer N, Wong TY, Pasquale LR, Hewitt AW, van Duijn CM, Hammond CJ. Springelkamp H, et al. Among authors: jonasson f. Nat Commun. 2014 Sep 22;5:4883. doi: 10.1038/ncomms5883. Nat Commun. 2014. PMID: 25241763 Free PMC article.
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
Ikram MK, Sim X, Jensen RA, Cotch MF, Hewitt AW, Ikram MA, Wang JJ, Klein R, Klein BE, Breteler MM, Cheung N, Liew G, Mitchell P, Uitterlinden AG, Rivadeneira F, Hofman A, de Jong PT, van Duijn CM, Kao L, Cheng CY, Smith AV, Glazer NL, Lumley T, McKnight B, Psaty BM, Jonasson F, Eiriksdottir G, Aspelund T; Global BPgen Consortium; Harris TB, Launer LJ, Taylor KD, Li X, Iyengar SK, Xi Q, Sivakumaran TA, Mackey DA, Macgregor S, Martin NG, Young TL, Bis JC, Wiggins KL, Heckbert SR, Hammond CJ, Andrew T, Fahy S, Attia J, Holliday EG, Scott RJ, Islam FM, Rotter JI, McAuley AK, Boerwinkle E, Tai ES, Gudnason V, Siscovick DS, Vingerling JR, Wong TY. Ikram MK, et al. Among authors: jonasson f. PLoS Genet. 2010 Oct 28;6(10):e1001184. doi: 10.1371/journal.pgen.1001184. PLoS Genet. 2010. PMID: 21060863 Free PMC article.
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Jonasdottir A, Stefansdottir G, Masson G, Hardarson GA, Petursson H, Arnarsson A, Motallebipour M, Wallerman O, Wadelius C, Gulcher JR, Thorsteinsdottir U, Kong A, Jonasson F, Stefansson K. Thorleifsson G, et al. Among authors: jonasson f. Science. 2007 Sep 7;317(5843):1397-400. doi: 10.1126/science.1146554. Epub 2007 Aug 9. Science. 2007. PMID: 17690259
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, Hewitt AW, Koehn D, Hysi PG, Ramdas WD, Zeller T, Vithana EN, Cornes BK, Tay WT, Tai ES, Cheng CY, Liu J, Foo JN, Saw SM, Thorleifsson G, Stefansson K, Dimasi DP, Mills RA, Mountain J, Ang W, Hoehn R, Verhoeven VJ, Grus F, Wolfs R, Castagne R, Lackner KJ, Springelkamp H, Yang J, Jonasson F, Leung DY, Chen LJ, Tham CC, Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, MacLeod A, Ennis S, Polasek O, Campbell H, Wilson JF, Viswanathan AC, Fleck B, Li X, Siscovick D, Taylor KD, Rotter JI, Yazar S, Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Haines JL, Kang JH, Pasquale LR, Allingham RR, Ashley-Koch A; NEIGHBOR Consortium; Mitchell P, Wang JJ, Wright AF, Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, Montgomery GW, Anderson MG, Aung T, Willoughby CE, Wiggs JL, Pang CP, Thorsteinsdottir U, Lotery AJ, Hammond CJ, van Duijn CM, Hauser MA, Rabinowitz YS, Pfeiffer N, Mackey DA, Craig JE, Macgregor S, Wong TY. Lu Y, et al. Among authors: jonasson f. Nat Genet. 2013 Feb;45(2):155-63. doi: 10.1038/ng.2506. Epub 2013 Jan 6. Nat Genet. 2013. PMID: 23291589 Free PMC article.
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
Holliday EG, Smith AV, Cornes BK, Buitendijk GH, Jensen RA, Sim X, Aspelund T, Aung T, Baird PN, Boerwinkle E, Cheng CY, van Duijn CM, Eiriksdottir G, Gudnason V, Harris T, Hewitt AW, Inouye M, Jonasson F, Klein BE, Launer L, Li X, Liew G, Lumley T, McElduff P, McKnight B, Mitchell P, Psaty BM, Rochtchina E, Rotter JI, Scott RJ, Tay W, Taylor K, Teo YY, Uitterlinden AG, Viswanathan A, Xie S; Wellcome Trust Case Control Consortium 2; Vingerling JR, Klaver CC, Tai ES, Siscovick D, Klein R, Cotch MF, Wong TY, Attia J, Wang JJ. Holliday EG, et al. Among authors: jonasson f. PLoS One. 2013;8(1):e53830. doi: 10.1371/journal.pone.0053830. Epub 2013 Jan 11. PLoS One. 2013. PMID: 23326517 Free PMC article.
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.
Helgason H, Sulem P, Duvvari MR, Luo H, Thorleifsson G, Stefansson H, Jonsdottir I, Masson G, Gudbjartsson DF, Walters GB, Magnusson OT, Kong A, Rafnar T, Kiemeney LA, Schoenmaker-Koller FE, Zhao L, Boon CJ, Song Y, Fauser S, Pei M, Ristau T, Patel S, Liakopoulos S, van de Ven JP, Hoyng CB, Ferreyra H, Duan Y, Bernstein PS, Geirsdottir A, Helgadottir G, Stefansson E, den Hollander AI, Zhang K, Jonasson F, Sigurdsson H, Thorsteinsdottir U, Stefansson K. Helgason H, et al. Among authors: jonasson f. Nat Genet. 2013 Nov;45(11):1371-4. doi: 10.1038/ng.2740. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036950
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP Jr, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, Järvelä I, Schlottmann P, Lerner SF, Lamari H, Nilgün Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossböck G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, Lashay A, Naderifar H, Khatibi N, Fea A, Lavia C, Dallorto L, Rolle T, Frezzotti P, Paoli D… See abstract for full author list ➔ Aung T, et al. Among authors: jonasson f. Nat Genet. 2017 Jul;49(7):993-1004. doi: 10.1038/ng.3875. Epub 2017 May 29. Nat Genet. 2017. PMID: 28553957 Free PMC article.
109 results