Research
My research focuses on understanding the role of inflammation in the aetiology of coronary heart disease. There is substantial evidence that inflammation plays an important role in the development of coronary heart disease. Identification of the culprit factors driving misguided inflammation in coronary heart disease is key to developing novel therapeutic strategies, in order to extend the current standard of care beyond that of cholesterol and blood pressure lowering medications.
Genome-wide association studies of coronary heart disease have identified several genetic loci with suspected role in inflammation. I use large-scale genetic studies with information on inflammatory biomarkers (e.g. the INTERVAL study) and cellular phenotyping in order to elucidate the biological mechanism of genetic variants associated with coronary heart disease, as exemplified by my work on the interleukin-6 receptor.
Publications
Using multivariable mendelian randomization to disentangle the causal effects of lipid fractions. Burgess S, Freitag DF, Khan H, Gorman DN, Thompson SG. PLoS One. 2014 Oct 10;9(10):e108891.
Discovery and refinement of loci associated with lipid levels. Global Lipids Genetics Consortium, Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS, Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R, Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K, Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, ... Ordovas JM, Boerwinkle E, Palmer CN, Thorsteinsdottir U, Chasman DI, Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS, Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E, Abecasis GR. Nat Genet. 2013 Nov;45(11):1274-83.
Common variants associated with plasma triglycerides and risk for coronary artery disease. Do R, Willer CJ, Schmidt EM, Sengupta S, Gao C, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS, Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K, Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, ... Altshuler D, Ordovas JM, Boerwinkle E, Palmer CN, Thorsteinsdottir U, Chasman DI, Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS, Boehnke M, Deloukas P, Mohlke KL, Ingelsson E, Abecasis GR, Daly MJ, Neale BM, Kathiresan S. Nat Genet. 2013 Nov;45(11):1345-52.
Inflammatory cytokines and risk of coronary heart disease: new prospective study and updated meta-analysis. Kaptoge S, Seshasai SR, Gao P, Freitag DF, Butterworth AS, Borglykke A, Di Angelantonio E, Gudnason V, Rumley A, Lowe GD, Jørgensen T, Danesh J. Eur Heart J. 2014 Mar;35(9):578-89.
Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases. Ferreira RC, Freitag DF, Cutler AJ, Howson JM, Rainbow DB, Smyth DJ, Kaptoge S, Clarke P, Boreham C, Coulson RM, Pekalski ML, Chen WM, Onengut-Gumuscu S, Rich SS, Butterworth AS, Malarstig A, Danesh J, Todd JA. PLoS Genet. 2013 Apr;9(4):e1003444.
Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies. IL6R Genetics Consortium Emerging Risk Factors Collaboration, Sarwar N, Butterworth AS, Freitag DF, Gregson J, Willeit P, ... Watkins H, Ouwehand WH, Samani NJ, Kaptoge S, Di Angelantonio E, Harari O, Danesh J. Lancet. 2012 Mar 31;379(9822):1205-13.
