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Page 1
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. 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.
The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports.
Cupples LA, Arruda HT, Benjamin EJ, D'Agostino RB Sr, Demissie S, DeStefano AL, Dupuis J, Falls KM, Fox CS, Gottlieb DJ, Govindaraju DR, Guo CY, Heard-Costa NL, Hwang SJ, Kathiresan S, Kiel DP, Laramie JM, Larson MG, Levy D, Liu CY, Lunetta KL, Mailman MD, Manning AK, Meigs JB, Murabito JM, Newton-Cheh C, O'Connor GT, O'Donnell CJ, Pandey M, Seshadri S, Vasan RS, Wang ZY, Wilk JB, Wolf PA, Yang Q, Atwood LD. Cupples LA, et al. BMC Med Genet. 2007;8 Suppl 1(Suppl 1):S1. doi: 10.1186/1471-2350-8-S1-S1. BMC Med Genet. 2007. PMID: 17903291 Free PMC article.
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. 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.
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies.
Assimes TL, Hólm H, Kathiresan S, Reilly MP, Thorleifsson G, Voight BF, Erdmann J, Willenborg C, Vaidya D, Xie C, Patterson CC, Morgan TM, Burnett MS, Li M, Hlatky MA, Knowles JW, Thompson JR, Absher D, Iribarren C, Go A, Fortmann SP, Sidney S, Risch N, Tang H, Myers RM, Berger K, Stoll M, Shah SH, Thorgeirsson G, Andersen K, Havulinna AS, Herrera JE, Faraday N, Kim Y, Kral BG, Mathias RA, Ruczinski I, Suktitipat B, Wilson AF, Yanek LR, Becker LC, Linsel-Nitschke P, Lieb W, König IR, Hengstenberg C, Fischer M, Stark K, Reinhard W, Winogradow J, Grassl M, Grosshennig A, Preuss M, Schreiber S, Wichmann HE, Meisinger C, Yee J, Friedlander Y, Do R, Meigs JB, Williams G, Nathan DM, MacRae CA, Qu L, Wilensky RL, Matthai WH Jr, Qasim AN, Hakonarson H, Pichard AD, Kent KM, Satler L, Lindsay JM, Waksman R, Knouff CW, Waterworth DM, Walker MC, Mooser VE, Marrugat J, Lucas G, Subirana I, Sala J, Ramos R, Martinelli N, Olivieri O, Trabetti E, Malerba G, Pignatti PF, Guiducci C, Mirel D, Parkin M, Hirschhorn JN, Asselta R, Duga S, Musunuru K, Daly MJ, Purcell S, Eifert S, Braund PS, Wright BJ, Balmforth AJ, Ball SG; Myocardial Infarction Genetics Consortium; Wellcome Trust Case Control Consort… See abstract for full author list ➔ Assimes TL, et al. J Am Coll Cardiol. 2010 Nov 2;56(19):1552-63. doi: 10.1016/j.jacc.2010.06.022. J Am Coll Cardiol. 2010. PMID: 20933357 Free PMC article.
Opportunities and challenges in the genetics of COPD 2010: an International COPD Genetics Conference report.
Silverman EK, Vestbo J, Agusti A, Anderson W, Bakke PS, Barnes KC, Barr RG, Bleecker ER, Boezen HM, Burkart KM, Celli BR, Cho MH, Cookson WO, Croxton T, Daley D, DeMeo DL, Gan W, Garcia-Aymerich J, Hall IP, Hansel NN, Hersh CP, Kalsheker N, Kiley JP, Kim WJ, Lambrechts D, Lee SD, Litonjua AA, Lomas DA, London SJ, Nishimura M, Nørdestgaard BG, O'Donnell CJ, Postma DS, Puhan MA, Tesfaigzi Y, Tobin MD, Vogelmeier C, Wilk JB, Wouters E, Young RP, Ziegler-Heitbrock L, MacNee W, Crapo JD. Silverman EK, et al. COPD. 2011 Apr;8(2):121-35. doi: 10.3109/15412555.2011.558864. COPD. 2011. PMID: 21495840 Free PMC article. No abstract available.
Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).
Reiner AP, Lettre G, Nalls MA, Ganesh SK, Mathias R, Austin MA, Dean E, Arepalli S, Britton A, Chen Z, Couper D, Curb JD, Eaton CB, Fornage M, Grant SF, Harris TB, Hernandez D, Kamatini N, Keating BJ, Kubo M, LaCroix A, Lange LA, Liu S, Lohman K, Meng Y, Mohler ER 3rd, Musani S, Nakamura Y, O'Donnell CJ, Okada Y, Palmer CD, Papanicolaou GJ, Patel KV, Singleton AB, Takahashi A, Tang H, Taylor HA Jr, Taylor K, Thomson C, Yanek LR, Yang L, Ziv E, Zonderman AB, Folsom AR, Evans MK, Liu Y, Becker DM, Snively BM, Wilson JG. Reiner AP, et al. PLoS Genet. 2011 Jun;7(6):e1002108. doi: 10.1371/journal.pgen.1002108. Epub 2011 Jun 30. PLoS Genet. 2011. PMID: 21738479 Free PMC article.
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project; Lung GO; Gibson RL, Bamshad MJ. Emond MJ, et al. Nat Genet. 2012 Jul 8;44(8):886-9. doi: 10.1038/ng.2344. Nat Genet. 2012. PMID: 22772370 Free PMC article.
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project; Jondeau G, Milewicz DM. Boileau C, et al. Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348. Nat Genet. 2012. PMID: 22772371 Free PMC article.
745 results