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Page 1
Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.
Walters RG, Coin LJ, Ruokonen A, de Smith AJ, El-Sayed Moustafa JS, Jacquemont S, Elliott P, Esko T, Hartikainen AL, Laitinen J, Männik K, Martinet D, Meyre D, Nauck M, Schurmann C, Sladek R, Thorleifsson G, Thorsteinsdóttir U, Valsesia A, Waeber G, Zufferey F, Balkau B, Pattou F, Metspalu A, Völzke H, Vollenweider P, Stefansson K, Järvelin MR, Beckmann JS, Froguel P, Blakemore AI. Walters RG, et al. Among authors: stefansson k. PLoS One. 2013;8(3):e58048. doi: 10.1371/journal.pone.0058048. Epub 2013 Mar 12. PLoS One. 2013. PMID: 23554873 Free PMC article. Clinical Trial.
The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts.
Lyon HN, Emilsson V, Hinney A, Heid IM, Lasky-Su J, Zhu X, Thorleifsson G, Gunnarsdottir S, Walters GB, Thorsteinsdottir U, Kong A, Gulcher J, Nguyen TT, Scherag A, Pfeufer A, Meitinger T, Brönner G, Rief W, Soto-Quiros ME, Avila L, Klanderman B, Raby BA, Silverman EK, Weiss ST, Laird N, Ding X, Groop L, Tuomi T, Isomaa B, Bengtsson K, Butler JL, Cooper RS, Fox CS, O'Donnell CJ, Vollmert C, Celedón JC, Wichmann HE, Hebebrand J, Stefansson K, Lange C, Hirschhorn JN. Lyon HN, et al. Among authors: stefansson k. PLoS Genet. 2007 Apr 27;3(4):e61. doi: 10.1371/journal.pgen.0030061. Epub 2007 Mar 7. PLoS Genet. 2007. PMID: 17465681 Free PMC article.
Sequence variants in the RNF212 gene associate with genome-wide recombination rate.
Kong A, Thorleifsson G, Stefansson H, Masson G, Helgason A, Gudbjartsson DF, Jonsdottir GM, Gudjonsson SA, Sverrisson S, Thorlacius T, Jonasdottir A, Hardarson GA, Palsson ST, Frigge ML, Gulcher JR, Thorsteinsdottir U, Stefansson K. Kong A, et al. Among authors: stefansson h, stefansson k. Science. 2008 Mar 7;319(5868):1398-401. doi: 10.1126/science.1152422. Epub 2008 Jan 31. Science. 2008. PMID: 18239089
Genetics of gene expression and its effect on disease.
Emilsson V, Thorleifsson G, Zhang B, Leonardson AS, Zink F, Zhu J, Carlson S, Helgason A, Walters GB, Gunnarsdottir S, Mouy M, Steinthorsdottir V, Eiriksdottir GH, Bjornsdottir G, Reynisdottir I, Gudbjartsson D, Helgadottir A, Jonasdottir A, Jonasdottir A, Styrkarsdottir U, Gretarsdottir S, Magnusson KP, Stefansson H, Fossdal R, Kristjansson K, Gislason HG, Stefansson T, Leifsson BG, Thorsteinsdottir U, Lamb JR, Gulcher JR, Reitman ML, Kong A, Schadt EE, Stefansson K. Emilsson V, et al. Among authors: stefansson t, stefansson h, stefansson k. Nature. 2008 Mar 27;452(7186):423-8. doi: 10.1038/nature06758. Epub 2008 Mar 16. Nature. 2008. PMID: 18344981
On the replication of genetic associations: timing can be everything!
Lasky-Su J, Lyon HN, Emilsson V, Heid IM, Molony C, Raby BA, Lazarus R, Klanderman B, Soto-Quiros ME, Avila L, Silverman EK, Thorleifsson G, Thorsteinsdottir U, Kronenberg F, Vollmert C, Illig T, Fox CS, Levy D, Laird N, Ding X, McQueen MB, Butler J, Ardlie K, Papoutsakis C, Dedoussis G, O'Donnell CJ, Wichmann HE, Celedón JC, Schadt E, Hirschhorn J, Weiss ST, Stefansson K, Lange C. Lasky-Su J, et al. Among authors: stefansson k. Am J Hum Genet. 2008 Apr;82(4):849-58. doi: 10.1016/j.ajhg.2008.01.018. Am J Hum Genet. 2008. PMID: 18387595 Free PMC article.
Male-pattern baldness susceptibility locus at 20p11.
Richards JB, Yuan X, Geller F, Waterworth D, Bataille V, Glass D, Song K, Waeber G, Vollenweider P, Aben KK, Kiemeney LA, Walters B, Soranzo N, Thorsteinsdottir U, Kong A, Rafnar T, Deloukas P, Sulem P, Stefansson H, Stefansson K, Spector TD, Mooser V. Richards JB, et al. Among authors: stefansson h, stefansson k. Nat Genet. 2008 Nov;40(11):1282-4. doi: 10.1038/ng.255. Epub 2008 Oct 12. Nat Genet. 2008. PMID: 18849991 Free PMC article.
Variants in MTNR1B influence fasting glucose levels.
Prokopenko I, Langenberg C, Florez JC, Saxena R, Soranzo N, Thorleifsson G, Loos RJ, Manning AK, Jackson AU, Aulchenko Y, Potter SC, Erdos MR, Sanna S, Hottenga JJ, Wheeler E, Kaakinen M, Lyssenko V, Chen WM, Ahmadi K, Beckmann JS, Bergman RN, Bochud M, Bonnycastle LL, Buchanan TA, Cao A, Cervino A, Coin L, Collins FS, Crisponi L, de Geus EJ, Dehghan A, Deloukas P, Doney AS, Elliott P, Freimer N, Gateva V, Herder C, Hofman A, Hughes TE, Hunt S, Illig T, Inouye M, Isomaa B, Johnson T, Kong A, Krestyaninova M, Kuusisto J, Laakso M, Lim N, Lindblad U, Lindgren CM, McCann OT, Mohlke KL, Morris AD, Naitza S, Orrù M, Palmer CN, Pouta A, Randall J, Rathmann W, Saramies J, Scheet P, Scott LJ, Scuteri A, Sharp S, Sijbrands E, Smit JH, Song K, Steinthorsdottir V, Stringham HM, Tuomi T, Tuomilehto J, Uitterlinden AG, Voight BF, Waterworth D, Wichmann HE, Willemsen G, Witteman JC, Yuan X, Zhao JH, Zeggini E, Schlessinger D, Sandhu M, Boomsma DI, Uda M, Spector TD, Penninx BW, Altshuler D, Vollenweider P, Jarvelin MR, Lakatta E, Waeber G, Fox CS, Peltonen L, Groop LC, Mooser V, Cupples LA, Thorsteinsdottir U, Boehnke M, Barroso I, Van Duijn C, Dupuis J, Watanabe RM, Stefansson K, McCart… See abstract for full author list ➔ Prokopenko I, et al. Among authors: stefansson k. Nat Genet. 2009 Jan;41(1):77-81. doi: 10.1038/ng.290. Epub 2008 Dec 7. Nat Genet. 2009. PMID: 19060907 Free PMC article.
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
Thorleifsson G, Walters GB, Gudbjartsson DF, Steinthorsdottir V, Sulem P, Helgadottir A, Styrkarsdottir U, Gretarsdottir S, Thorlacius S, Jonsdottir I, Jonsdottir T, Olafsdottir EJ, Olafsdottir GH, Jonsson T, Jonsson F, Borch-Johnsen K, Hansen T, Andersen G, Jorgensen T, Lauritzen T, Aben KK, Verbeek AL, Roeleveld N, Kampman E, Yanek LR, Becker LC, Tryggvadottir L, Rafnar T, Becker DM, Gulcher J, Kiemeney LA, Pedersen O, Kong A, Thorsteinsdottir U, Stefansson K. Thorleifsson G, et al. Among authors: stefansson k. Nat Genet. 2009 Jan;41(1):18-24. doi: 10.1038/ng.274. Epub 2008 Dec 14. Nat Genet. 2009. PMID: 19079260
The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects.
Choquet H, Cavalcanti-Proença C, Lecoeur C, Dina C, Cauchi S, Vaxillaire M, Hadjadj S, Horber F, Potoczna N, Charpentier G, Ruiz J, Hercberg S, Maimaitiming S, Roussel R, Boenhnke M, Jackson AU, Patsch W, Krempler F, Voight BF, Altshuler D, Groop L, Thorleifsson G, Steinthorsdottir V, Stefansson K, Balkau B, Froguel P, Meyre D. Choquet H, et al. Among authors: stefansson k. Hum Mol Genet. 2009 Jul 1;18(13):2495-501. doi: 10.1093/hmg/ddp169. Epub 2009 Apr 18. Hum Mol Genet. 2009. PMID: 19377085 Free article.
Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche.
Sulem P, Gudbjartsson DF, Rafnar T, Holm H, Olafsdottir EJ, Olafsdottir GH, Jonsson T, Alexandersen P, Feenstra B, Boyd HA, Aben KK, Verbeek AL, Roeleveld N, Jonasdottir A, Styrkarsdottir U, Steinthorsdottir V, Karason A, Stacey SN, Gudmundsson J, Jakobsdottir M, Thorleifsson G, Hardarson G, Gulcher J, Kong A, Kiemeney LA, Melbye M, Christiansen C, Tryggvadottir L, Thorsteinsdottir U, Stefansson K. Sulem P, et al. Among authors: stefansson k. Nat Genet. 2009 Jun;41(6):734-8. doi: 10.1038/ng.383. Epub 2009 May 17. Nat Genet. 2009. PMID: 19448622
1,023 results