I have been conducting human genetics research for over 10 years. The highlights of my career are the discovery of the polymorphic Sp1 site in the COL1A1 gene and its association with osteoporosis, and the identification of variation in the TCF7L2 gene playing a role in more than 20 percent of type 2 diabetes cases. I have achieved these findings by working with key populations around the world that provide a unique insight into how to isolate human disease genes.
My current work continues to primarily focus on metabolic disease, with a specific focus on pediatrics. Utilizing high-throughput genotyping technology, my goals include isolating genes involved in childhood obesity and pediatric bone strength determination. Both of these phenotypes are known to be strongly determined by genetic factors; however, the isolation of genes in these complex phenotypes in adults has been impeded by interaction with strong environmental factors. Distillation of the genetic component in these complex traits should be easier to determine in children, where the relatively short period of their lifetime limits the impact of environmental exposure. Given the global prevalence of obesity and osteoporosis, prevention of these disorders and their serious complications must be addressed in order to reduce individual morbidity and the economic burden on society.
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Selected Publications
S.F.A. Grant: Understanding the elusive mechanism of action of TCF7L2 in metabolism. Diabetes 61: 2657-8, 2012.
M. Horikoshi*, H. Yaghootkar*, D.O. Mook-Kanamori*, U. Sovio, H.R. Taal, B.J. Hennig, J.P Bradfield, B. St Pourcain, D.M. Evans, P. Charoen, M. Kaakinen, D.L. Cousminer, T. Lehtimäki, E. Kreiner-Møller, N.M. Warrington, M. Bustamante, B. Feenstra, D.J. Berry, E. Thiering, T. Pfab, S.J. Barton, B.M. Shields, M. Kerkhof, E.M. van Leeuwen, A.J. Fulford, Z. Kutalik, J.H. Zhao, M. den Hoed, A. Mahajan, V. Lindi, L.K. Goh, J.J. Hottenga, Y. Wu, O.T. Raitakari, M.N. Harder, A. Meirhaeghe, I. Ntalla, R.M. Salem, K.A. Jameson, K. Zhou, D.M. Monies, V. Lagou, M. Kirin, J. Heikkinen, L.S. Adair, F.S. Alkuraya, A. Al-Odaib, P. Amouyel, E.A. Andersson, A.J. Bennett, A.I.F. Blakemore, J.L. Buxton, J. Dallongeville, S. Das, E.J.C. de Geus, X. Estivill, C. Flexeder, P. Froguel, F. Geller, K.M. Godfrey, F. Gottrand, C.J. Groves, T. Hansen, J.N. Hirschhorn, A. Hofman, M.V. Hollegaard, D.M. Hougaard, E. Hyppönen, H.M. Inskip, A. Isaacs, T. Jørgensen, C. Kanaka-Gantenbein, J.P. Kemp, W. Kiess, T.O. Kilpeläinen, N. Klopp, B.A. Knight, C.W. Kuzawa, G. McMahon, J.P. Newnham, H. Niinikoski, B.A. Oostra, L. Pedersen, D.S. Postma, S.M. Ring, F. Rivadeneira, N.R. Robertson, S. Sebert, O. Simell, T. Slowinski, C.M.T. Tiesler, A. Tönjes, A. Vaag, J.S. Viikari, J.M. Vink, N.H. Vissing, N.J. Wareham, G. Willemsen, D.R. Witte, H. Zhang, J. Zhao, The Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC), J.F. Wilson, M. Stumvoll, A.M. Prentice, B.F. Meyer, E.R. Pearson, C.A.G. Boreham, C. Cooper, M.W. Gillman, G.V. Dedoussis, L.A. Moreno, O. Pedersen, M. Saarinen, K.L. Mohlke, D.I. Boomsma, S.M. Saw, T.A. Lakka, A. Körner, R.J.F. Loos, K.K. Ong, P. Vollenweider, C.M. van Duijn, G.H. Koppelman, A.T. Hattersley, J.W. Holloway, B. Hocher, J. Heinrich, C. Power, M. Melbye, M. Guxens, C.E. Pennell, K. Bønnelykke, H. Bisgaard, J.G. Eriksson, E. Widén, H. Hakonarson, A.G. Uitterlinden, A. Pouta, D.A. Lawlor, G. Davey Smith, T.M. Frayling, M.I. McCarthy*, S.F.A. Grant*, V.W.V. Jaddoe*, M.R. Jarvelin*, N.J. Timpson*, I. Prokopenko* and R.M. Freathy* for the Early Growth Genetics (EGG) Consortium: New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature Genetics Epub ahead of print, December 2012 Notes: *equal contribution.
J.P. Bradfield*, H.R. Taal*, N.J Timpson, A. Scherag, C. Lecoeur, N.M. Warrington, E. Hypponen, C. Holst, B. Valcarcel, E. Thiering, R.M. Salem, F.R. Schumacher, D.L. Cousminer, P.M.A. Sleiman, J. Zhao, R.I. Berkowitz, K.S. Vimaleswaran, I. Jarick, C.E. Pennell, D.M. Evans, B. St Pourcain, D.J. Berry, D.O. Mook-Kanamori, A. Hofman, F. Rivadeneira, A.G. Uitterlinden, C.M. van Duijn, R.J.P. van der Valk, J.C. de Jongste, D.S. Postma, D.I. Boomsma, W.J. Gauderman, M.T. Hassanein, C.M. Lindgren, R. Mägi, C.A.G. Boreham, C.E. Neville, L.A. Moreno, P. Elliott, A. Pouta, A.L. Hartikainen, M. Li, O. Raitakari, T. Lehtimäki, J.G Eriksson, A. Palotie, J. Dallongeville, S. Das, P. Deloukas, G. McMahon, S.M. Ring, J.P. Kemp, J.L. Buxton, A.I.F. Blakemore, M. Bustamante, M. Guxens, J.N. Hirschhorn, M.W. Gillman, E. Kreiner-Møller, H. Bisgaard, F.D. Gilliland, J. Heinrich, E. Wheeler, I. Barroso, S. O’Rahilly, A. Meirhaeghe, T.I.A. Sørensen, C. Power, L.J. Palmer, A. Hinney, E. Widen, I.S. Farooqi, M.I. McCarthy, P. Froguel, D. Meyre, J. Hebebrand, M.R. Jarvelin, V.W.V. Jaddoe, G. Davey Smith, H. Hakonarson and S.F.A. Grant for the Early Growth Genetics (EGG) Consortium: A genome-wide association meta-analysis identifies new childhood obesity loci. Nature Genetics 44: 526–531, 2012 Notes: *equal contribution.
J. Zhao*, S. Deliard*, A.R. Aziz and S.F.A. Grant: Expression analyses of the genes harbored by the type 2 diabetes and pediatric BMI associated locus on 10q23. BMC Medical Genetics 13: 89, 2012 Notes: *equal contribution.
J. Zhao, J.P. Bradfield, M. Li, H. Zhang, F.D. Mentch, K. Wang, P.M. Sleiman, C.E. Kim, J.T. Glessner, E.C. Frackelton, R.M. Chiavacci, R.I. Berkowitz, B.S. Zemel, H. Hakonarson and S.F.A. Grant: BMD-associated variation at the Osterix locus is correlated with childhood obesity in females. Obesity 19: 1311-4, 2011.
J.T. Glessner, J.P. Bradfield, K. Wang, N. Takahashi, H. Zhang, P.M. Sleiman, F.D. Mentch, C.E. Kim, C. Hou, K.A. Thomas, M.L. Garris, S. Deliard, E.C. Frackelton, F.G. Otieno, J. Zhao, R.M. Chiavacci, M. Li, J.D. Buxbaum, R.I. Berkowitz, H. Hakonarson* and S.F.A. Grant*: A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases
American Journal of Human Genetics 87: 661–666, 2010 Notes: *equal contribution.
J. Zhao*, J. Schug*, M. Li, K.H. Kaestner and S.F.A. Grant: Disease-associated loci are significantly over-represented among genes bound by TCF7L2 in vivo. Diabetologia 53: 2340-6, 2010 Notes: *equal contribution.
H. Hakonarson*, S.F.A. Grant*, J.P. Bradfield*, L. Marchand, C.E. Kim, J.T. Glessner, R. Grabs, T. Casalunovo, S.P. Taback, E.C. Frackelton, M.L. Lawson, L.J. Robinson, R. Skraban, Y. Lu, R.M. Chiavacci, C.A. Stanley, S.E. Kirsch, E.F. Rappaport, J.S. Orange, D.S. Monos, M. Devoto, H. Qu and C. Polychronakos: A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature 448(7153): 591-4, 2007 Notes: *equal contribution.
S.F.A. Grant, G. Thorleifsson, I. Reynisdottir, R. Benediktsson, A. Manolescu, J. Sainz, A. Helgason, H. Stefansson, V. Emilsson, A. Helgadottir, U. Styrkarsdottir, K.P. Magnusson, G. B. Walters, E. Palsdottir, T. Jonsdottir, T. Gudmundsdottir, A. Gylfason, J. Saemundsdottir, R.L. Wilensky, M.P. Reilly, D.J. Rader, Y. Bagger, C. Christiansen, V.Gudnason, G. Sigurdsson, U. Thorsteinsdottir, J.R. Gulcher, A. Kong and K. Stefansson : Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nature Genetics 38(3): 320-3, 2006.
S.F.A. Grant, D.M. Reid, G. Blake, R. Herd, I. Fogelman and S.H. Ralston: Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nature Genetics 14(2): 203-5, 1996.
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Last updated: 12/03/2012
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