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Prof Steve Humphries

Research Summary

A large part of your research activities focus on a monogenic paradigm of early heart disease called Familial hypercholestereolaemia. I have been a committee member of the Simon Broome UK FH register since 1991 and have co-authored a number of key papers from the Register documenting the natural history and the underlining molecular causes of the disease. We have developed and applyed high-throughput methods for mutation screening, and have established a clinical genetics service for FH and the DNA diagnostic laboratory in the Institute of Child Health London, which has been running since 1995 with over 900 referrals to-date. Recently, this has resulted in the commercial development of a simple, quick and cheap kit to test for 20 common FH-causing mutations that will detect the mutation in ~450% of patients. In 1996, we established a website database for all known LDLR mutations (http://www.ucl.ac.uk/fh) and this database, which was updated in July 2007, now contains 1000 different molecular causes of FH and is regularly receiving more than 1000 hits/month worldwide. We have developed assays to test both for sequence changes effecting promoter strength and splicing to determine causality of identified sequence changes. With colleagues at the LSHTM, we demonstrated convincingly the cost effectiveness of cascade testing for FH and with other colleagues at King's have examined the psychological impact of genetic testing in FH families. This influenced government thinking such that the White Paper in 2003 "Our inheritance our Future" included a commitment to a pilot project for cascade testing in the UK, and we headed the coordinating centre for this project. A report of this work was sent to the Department of Health in October 2007 and the data obtained has had a major impact on shaping the recommendations of the NICE guidelines for the identification and management of FH which was published in August 2008 and for which I was the lead clinical advisor. With the Royal College of Physicians I am currently developing an audit of the management of FH patients in the UK, and all these outputs taken together will have a significant beneficial impact on the management of this high risk group of subjects.both healthy men and women and of patients with heart disease collected through collaboration with clinical and epidemiological colleagues.

Research Activities

  • Cardiovascular Genetics
  • Cell stress proteins as extracellular signals
  • Critical Care Medicine
  • Disease of the oral mucosa, salivary glands and jaw bones
  • characterisation of the genetic and immunological

Recent Publications

Displaying 50 most recent publications. For the full list please visit UCL Discovery

  1. Woo P,Humphries SE (2013) IL-6 polymorphisms: a useful genetic tool for inflammation research? JOURNAL OF CLINICAL INVESTIGATION, 123(4), 1413 - 1414. 10.1172/JCI67221.
  2. Harrison SC,Holmes MV,Bown MJ,Jones GT,Grettarsdottir S,Agu O,Van Rij A,Asselbergs FW,Baas AF,Humphries SE (2013) High-density lipoprotein cholesterol and abdominal aortic aneurysm - a Mendelian randomisation study BRITISH JOURNAL OF SURGERY, 100, 6 - 7.
  3. Khan TA,Shah T,Prieto D,Zhang W,Price J,Fowkes GR,Cooper J,Talmud PJ,Humphries SE,Sundstrom J,Hubacek JA,Ebrahim S,Lawlor DA,Ben-Shlomo Y,Abdollahi MR,Slooter AJ,Szolnoki Z,Sandhu M,Wareham N,Frikke-Schmidt R,Tybjærg-Hansen A,Fillenbaum G,Heijmans BT,Katsuya T,Gromadzka G,Singleton A,Ferrucci L,Hardy J,Worrall B,Rich SS,Matarin M,Whittaker J,Gaunt TR,Whincup P,Morris R,Deanfield J,Donald A,Davey Smith G,Kivimaki M,Kumari M,Smeeth L,Khaw KT,Nalls M,Meschia J,Sun K,Hui R,Day I,Hingorani AD,Casas JP (2013) Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and meta-analysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals. Int J Epidemiol, 42(2), 475 - 492. 10.1093/ije/dyt034.
  4. Shah T,Zabaneh D,Gaunt T,Swerdlow DI,Shah S,Talmud PJ,Day IN,Whittaker J,Holmes MV,Sofat R,Humphries SE,Kivimaki M,Kumari M,Hingorani AD,Casas JP (2013) Gene-centric analysis identifies variants associated with interleukin-6 levels and shared pathways with other inflammation markers. Circ Cardiovasc Genet, 6(2), 163 - 170. 10.1161/CIRCGENETICS.112.964254.
  5. Dieckmann M,Beil FT,Mueller B,Bartelt A,Marshall RP,Koehne T,Amling M,Ruether W,Cooper JA,Humphries SE,Herz J,Niemeier A (2013) Human Apolipoprotein E Isoforms Differentially Affect Bone Mass and Turnover In Vivo JOURNAL OF BONE AND MINERAL RESEARCH, 28(2), 236 - 245. 10.1002/jbmr.1757.
  6. Shah S,Casas JP,Gaunt TR,Cooper J,Drenos F,Zabaneh D,Swerdlow DI,Shah T,Sofat R,Palmen J,Kumari M,Kivimaki M,Ebrahim S,Smith GD,Lawlor DA,Talmud PJ,Whittaker J,Day IN,Hingorani AD,Humphries SE (2013) Influence of common genetic variation on blood lipid levels, cardiovascular risk, and coronary events in two British prospective cohort studies. Eur Heart J, 34(13), 972 - 981. 10.1093/eurheartj/ehs243.
  7. Cambridge G,Acharya J,Cooper JA,Edwards JC,Humphries SE (2013) Antibodies to citrullinated peptides and risk of coronary heart disease. Atherosclerosis, 228(1), 243 - 246. 10.1016/j.atherosclerosis.2013.02.009.
  8. Talmud PJ,Shah S,Whittall R,Futema M,Howard P,Cooper JA,Harrison SC,Li K,Drenos F,Karpe F,Neil HA,Descamps OS,Langenberg C,Lench N,Kivimaki M,Whittaker J,Hingorani AD,Kumari M,Humphries SE (2013) Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet, 381(9874), 1293 - 1301. 10.1016/S0140-6736(12)62127-8.
  9. Humphries SE (2013) Out with print in with e publication: editor in chief's report for Atherosclerosis for 2012. Atherosclerosis, 226(1), 1 - 2. 10.1016/j.atherosclerosis.2012.12.004.
  10. Shah S,Casas JP,Drenos F,Whittaker J,Deanfield J,Swerdlow DI,Holmes MV,Kivimaki M,Langenberg C,Wareham N,Gertow K,Sennblad B,Strawbridge RJ,Baldassarre D,Veglia F,Tremoli E,Gigante B,de Faire U,Kumari M,Talmud PJ,Hamsten A,Humphries SE,Hingorani AD (2013) Causal relevance of blood lipid fractions in the development of carotid atherosclerosis: Mendelian randomization analysis. Circ Cardiovasc Genet, 6(1), 63 - 72. 10.1161/CIRCGENETICS.112.963140.
  11. Eleftheriou KI,Rawal JS,James LE,Payne JR,Loosemore M,Pennell DJ,World M,Drenos F,Haddad FS,Humphries SE,Sanders J,Montgomery HE (2013) Bone structure and geometry in young men: the influence of smoking, alcohol intake and physical activity. Bone, 52(1), 17 - 26. 10.1016/j.bone.2012.09.003.
  12. Ahmed W,Whittall R,Riaz M,Ajmal M,Sadeque A,Ayub H,Qamar R,Humphries SE (2013) The genetic spectrum of familial hypercholesterolemia in Pakistan. Clin Chim Acta, 421, 219 - 225. 10.1016/j.cca.2013.03.017.
  13. Pang DX,Smith AJ,Humphries SE (2012) Functional analysis of TCF7L2 genetic variants associated with type 2 diabetes. Nutr Metab Cardiovasc Dis. 10.1016/j.numecd.2011.12.012.
  14. Futema M,Plagnol V,Whittall RA,Neil HAW,Hurles ME,Humphries SE (2012) Exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia (FH) JOURNAL OF MEDICAL GENETICS, 49, S114 - S114.
  15. Harrison SC,Zabaneh D,Drenos F,Bown MJ,Gertow K,Baldassare D,Asselbergs FW,Jones GT,Baas AF,Kumari M,Fowkes FG,Eriksson P,Hamsten A,Humphries SE (2012) Genetic determinants of vascular diameter and the risk of abdominal aortic aneurysm BRITISH JOURNAL OF SURGERY, 99, 11 - 11.
  16. Saxena R,Elbers CC,Guo Y,Peter I,Gaunt TR,Mega JL,Lanktree MB,Tare A,Castillo BA,Li YR,Johnson T,Bruinenberg M,Gilbert-Diamond D,Rajagopalan R,Voight BF,Balasubramanyam A,Barnard J,Bauer F,Baumert J,Bhangale T,Böhm BO,Braund PS,Burton PR,Chandrupatla HR,Clarke R,Cooper-DeHoff RM,Crook ED,Davey-Smith G,Day IN,de Boer A,de Groot MC,Drenos F,Ferguson J,Fox CS,Furlong CE,Gibson Q,Gieger C,Gilhuijs-Pederson LA,Glessner JT,Goel A,Gong Y,Grant SF,Grobbee DE,Hastie C,Humphries SE,Kim CE,Kivimaki M,Kleber M,Meisinger C,Kumari M,Langaee TY,Lawlor DA,Li M,Lobmeyer MT,Maitland-van der Zee AH,Meijs MF,Molony CM,Morrow DA,Murugesan G,Musani SK,Nelson CP,Newhouse SJ,O'Connell JR,Padmanabhan S,Palmen J,Patel SR,Pepine CJ,Pettinger M,Price TS,Rafelt S,Ranchalis J,Rasheed A,Rosenthal E,Ruczinski I,Shah S,Shen H,Silbernagel G,Smith EN,Spijkerman AW,Stanton A,Steffes MW,Thorand B,Trip M,van der Harst P,van der A DL,van Iperen EP,van Setten J,van Vliet-Ostaptchouk JV,Verweij N,Wolffenbuttel BH,Young T,Zafarmand MH,Zmuda JM,Look AHEAD Research Group ,DIAGRAM consortium ,Boehnke M,Altshuler D,McCarthy M,Kao WH,Pankow JS,Cappola TP,Sever P,Poulter N,Caulfield M,Dominiczak A,Shields DC,Bhatt DL,Zhang L,Curtis SP,Danesh J,Casas JP,van der Schouw YT,Onland-Moret NC,Doevendans PA,Dorn GW,Farrall M,FitzGerald GA,Hamsten A,Hegele R,Hingorani AD,Hofker MH,Huggins GS,Illig T,Jarvik GP,Johnson JA,Klungel OH,Knowler WC,Koenig W,März W,Meigs JB,Melander O,Munroe PB,Mitchell BD,Bielinski SJ,Rader DJ,Reilly MP,Rich SS,Rotter JI,Saleheen D,Samani NJ,Schadt EE,Shuldiner AR,Silverstein R,Kottke-Marchant K,Talmud PJ,Watkins H,Asselbergs FW,de Bakker PI,McCaffery J,Wijmenga C,Sabatine MS,Wilson JG,Reiner A,Bowden DW,Hakonarson H,Siscovick DS,Keating BJ (2012) Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet, 90(3), 410 - 425. 10.1016/j.ajhg.2011.12.022.
  17. Ahmed W,Ajmal M,Sadeque A,Whittall RA,Rafiq S,Putt W,Khawaja A,Imtiaz F,Ahmed N,Azam M,Humphries SE,Qamar R (2012) Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients. Mol Biol Rep, 39(7), 7365 - 7372. 10.1007/s11033-012-1568-1.
  18. Dhamrait SS,Williams AG,Day SH,Skipworth J,Payne JR,World M,Humphries SE,Montgomery HE (2012) Variation in the uncoupling protein 2 and 3 genes and human performance. J Appl Physiol, 112(7), 1122 - 1127. 10.1152/japplphysiol.00766.2011.
  19. Harrison SC,Zabaneh D,Asselbergs FW,Drenos F,Jones GT,Shah S,Gertow K,Sennblad B,Strawbridge RJ,Gigante B,Holewijn S,De Graaf J,Vermeulen S,Folkersen L,van Rij AM,Baldassarre D,Veglia F,Talmud PJ,Deanfield JE,Agu O,Kivimaki M,Kumari M,Bown MJ,Nyyssönen K,Rauramaa R,Smit AJ,Franco-Cereceda A,Giral P,Mannarino E,Silveira A,Syvänen A-C,de Borst GJ,van der Graaf Y,de Faire U,Baas AF,Blankensteijn JD,Wareham NJ,Fowkes G,Tzoulaki I,Price JF,Tremoli E,Hingorani AD,Eriksson P,Hamsten A,Humphries SE (2012) A gene-centric study of common carotid artery remodelling Atherosclerosis.
  20. Helgadottir A,Gretarsdottir S,Thorleifsson G,Holm H,Patel RS,Gudnason T,Jones GT,Van Rij AM,Eapen DJ,Baas AF,Tregouet D-A,Morange P-E,Emmerich J,Lindblad B,Gottster A,Kiemeny LA,Lindholt JS,Sakalihasan N,Ferrell RE,Carey DJ,Elmore JR,Tsao PS,Grarup N,Jørgensen T,Witte DR,Hansen T,Pedersen O,Pola R,Gaetani E,Magnadottir HB,Wijmenga C,Tromp G,Ronkainen A,Ruigrok YM,Blankensteijn JD,Mueller T,Wells PS,Corral J,Soria JM,Souto JC,Peden JF,Jalilzadeh S,Mayosi BM,Keavney B,Strawbridge RJ,Sabater-Lleal M,Gertow K,Baldassarre D,Nyyssnen K,Rauramaa R,Smit AJ,Mannarino E,Giral P,Tremoli E,De Faire U,Humphries SE,Hamsten A,Haraldsdottir V,Olafsson I,Magnusson MK,Samani NJ,Levey AI,Markus HS,Kostulas K,Dichgans M,Berger K,Kuhlenbumer G,Ringelstein EB,Stoll M,Seedorf U,Rothwell PM,Powell JT,Kuivaniemi H,Onundarson PT,Valdimarsson E,Matthiasson SE,Gudbjartsson DF,Thorgeirsson G,Quyyumi AA,Watkins H,Farrall M,Thorsteinsdottir U,Stefansson K (2012) Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism Journal of the American College of Cardiology, 60(8), 722 - 729.
  21. Papp AC,Pinsonneault JK,Wang D,Newman LC,Gong Y,Johnson JA,Pepine CJ,Kumari M,Hingorani AD,Talmud PJ,Shah S,Humphries SE,Sadee W (2012) Cholesteryl Ester Transfer Protein (CETP) polymorphisms affect mRNA splicing, HDL levels, and sex-dependent cardiovascular risk. PLoS One, 7(3), e31930. 10.1371/journal.pone.0031930.
  22. Exeter HJ,Folkersen L,Palmen J,Franco-Cereceda A,Cooper JA,Kalea AZ,Hooft FV,Eriksson P,Humphries SE,Talmud PJ (2012) Functional analysis of two PLA2G2A variants associated with secretory phospholipase A2-IIA levels. PLoS One, 7(7), e41139. 10.1371/journal.pone.0041139.
  23. Harrison SC,Kalea AZ,Holmes MV,Agu O,Humphries SE (2012) Genomic research to identify novel pathways in the development of abdominal aortic aneurysm. Cardiol Res Pract, 2012, 852829. 10.1155/2012/852829.
  24. Morris AP,Voight BF,Teslovich TM,Ferreira T,Segrè AV,Steinthorsdottir V,Strawbridge RJ,Khan H,Grallert H,Mahajan A,Prokopenko I,Kang HM,Dina C,Esko T,Fraser RM,Kanoni S,Kumar A,Lagou V,Langenberg C,Luan J,Lindgren CM,Müller-Nurasyid M,Pechlivanis S,Rayner NW,Scott LJ,Wiltshire S,Yengo L,Kinnunen L,Rossin EJ,Raychaudhuri S,Johnson AD,Dimas AS,Loos RJF,Vedantam S,Chen H,Florez JC,Fox C,Liu C-T,Rybin D,Couper DJ,Kao WHL,Li M,Cornelis MC,Kraft P,Sun Q,Van Dam RM,Stringham HM,Chines PS,Fischer K,Fontanillas P,Holmen OL,Hunt SE,Jackson AU,Kong A,Lawrence R,Meyer J,Perry JRB,Platou CGP,Potter S,Rehnberg E,Robertson N,Sivapalaratnam S,Stančáková A,Stirrups K,Thorleifsson G,Tikkanen E,Wood AR,Almgren P,Atalay M,Benediktsson R,Bonnycastle LL,Burtt N,Carey J,Charpentier G,Crenshaw AT,Doney ASF,Dorkhan M,Edkins S,Emilsson V,Eury E,Forsen T,Gertow K,Gigante B,Grant GB,Groves CJ,Guiducci C,Herder C,Hreidarsson AB,Hui J,James A,Jonsson A,Rathmann W,Klopp N,Kravic J,Krjutškov K,Langford C,Leander K,Lindholm E,Lobbens S,MäNnistö S,Mirza G,MüHleisen TW,Musk B,Parkin M,Rallidis L,Saramies J,Sennblad B,Shah S,Sigursson G,Silveira A,Steinbach G,Thorand B,Trakalo J,Veglia F,Wennauer R,Winckler W,Zabaneh D,Campbell H,Van Duijn C,Uitterlinden AG,Hofman A,Sijbrands E,Abecasis GR,Owen KR,Zeggini E,Trip MD,Forouhi NG,Syvänen A-C,Eriksson JG,Peltonen L,Nöthen MM,Balkau B,Palmer CNA,Lyssenko V,Tuomi T,Isomaa B,Hunter DJ,Qi L,Shuldiner AR,Roden M,Barroso I,Wilsgaard T,Beilby J,Hovingh K,Price JF,Wilson JF,Rauramaa R,Lakka TA,Lind L,Dedoussis G,NjøLstad I,Pedersen NL,Khaw K-T,Wareham NJ,Keinanen-Kiukaanniemi SM,Saaristo TE,Korpi-HyöVäLti E,Saltevo J,Laakso M,Kuusisto J,Metspalu A,Collins FS,Mohlke KL,Bergman RN,Tuomilehto J,Boehm BO,Gieger C,Hveem K,Cauchi S,Froguel P,Baldassarre D,Tremoli E,Humphries SE,Saleheen D,Danesh J,Ingelsson E,Ripatti S,Salomaa V,Erbel R,JöCkel K-H,Moebus S,Peters A,Illig T,Faire UD,Hamsten A,Morris AD,Donnelly PJ,Frayling TM,Hattersley AT,Boerwinkle E,Melander O,Kathiresan S,Nilsson PM,Deloukas P,Thorsteinsdottir U,Groop LC,Stefansson K,Hu F,Pankow JS,Dupuis J,Meigs JB,Altshuler D,Boehnke M,McCarthy MI (2012) Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes Nature Genetics, 44(9), 981 - 990.
  25. Asselbergs F,Guo Y,van Iperen EA,Sivapalaratnam S,Tragante V,Lanktree M,Lange L,Almoguera B,Appelman Y,Barnard J,Baumert J,Beitelshees A,Bhangale T,Chen Y-D,Gaunt T,Gong Y,Hopewell J,Johnson T,Kleber M,Langaee T,Li M,Li Y,Liu K,McDonough C,Meijs ML,Middelberg RS,Musunuru K,Nelson C,O'Connell J,Padmanabhan S,Pankow J,Pankratz N,Rafelt S,Rajagopalan R,Romaine SR,Schork N,Shaffer J,Shen H,Smith E,Tischfield S,van der Most P,van Vliet-Ostaptchouk J,Verweij N,Volcik K,Zhang L,Bailey K,Bailey K,Bauer F,Boer JA,Braund P,Burt A,Burton P,Buxbaum S,Chen W,Cooper-DeHoff R,Cupples L,deJong J,Delles C,Duggan D,Fornage M,Furlong C,Glazer N,Gums J,Hastie C,Holmes M,Illig T,Kirkland S,Kivimaki M,Klein R,Klein B,Kooperberg C,Kottke-Marchant K,Kumari M,LaCroix A,Mallela L,Murugesan G,Ordovas J,Ouwehand W,Post W,Saxena R,Scharnagl H,Schreiner P,Shah T,Shields D,Shimbo D,Srinivasan S,Stolk R,Swerdlow D,Taylor Jr H,Topol E,Toskala E,van Pelt J,van Setten J,Yusuf S,Whittaker J,Zwinderman AH,Anand S,Balmforth A,Berenson G,Bezzina C,Boehm B,Boerwinkle E,Casas J,Caulfield M,Clarke R,Connell J,Cruickshanks K,Davidson K,Day IM,de Bakker PW,Doevendans P,Dominiczak A,Hall A,Hartman C,Hengstenberg C,Hillege H,Hofker M,Humphries S,Jarvik G,Johnson J,Kaess B,Kathiresan S,Koenig W,Lawlor D,März W,Melander O,Mitchell B,Montgomery G,Munroe P,Murray S,Newhouse S,Onland-Moret N,Poulter N,Psaty B,Redline S,Rich S,Rotter J,Schunkert H,Sever P,Shuldiner A,Silverstein R,Stanton A,Thorand B,Trip M,Tsai M,van der Harst P,van der Schoot E,van der Schouw Y,Verschuren WM,Watkins H,Wilde AM,Wolffenbuttel BR,Whitfield J,Hovingh G,Ballantyne C,Wijmenga C,Reilly M,Martin N,Wilson J,Rader D,Samani N,Reiner A,Hegele R,Kastelein JP,Hingorani A,Talmud P,Hakonarson H,Elbers C,Keating B,Drenos F (2012) Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci American Journal of Human Genetics.
  26. Smith AJP,Howard P,Shah S,Eriksson P,Stender S,Giambartolomei C,Folkersen L,Tybjærg-Hansen A,Kumari M,Palmen J,Hingorani AD,Talmud PJ,Humphries SE (2012) Use of Allele-Specific FAIRE to Determine Functional Regulatory Polymorphism Using Large-Scale Genotyping Arrays PLoS Genetics, 8(8).
  27. Eleftheriou KI,Rawal JS,Kehoe A,James LE,Payne JR,Skipworth JR,Puthucheary ZA,Drenos F,Pennell DJ,Loosemore M,World M,Humphries SE,Haddad FS,Montgomery HE (2012) The Lichfield bone study: the skeletal response to exercise in healthy young men. J Appl Physiol, 112(4), 615 - 626. 10.1152/japplphysiol.00788.2011.
  28. Yiannakouris N,Cooper JA,Shah S,Drenos F,Ireland HA,Stephens JW,Li KW,Elkeles R,Godsland IF,Kivimaki M,Hingorani AD,Kumari M,Talmud PJ,Humphries SE (2012) IRS1 gene variants, dysglycaemic metabolic changes and type-2 diabetes risk. Nutr Metab Cardiovasc Dis, 22(12), 1024 - 1030. 10.1016/j.numecd.2011.05.009.
  29. Martin NG,Li KW,Murray H,Putt W,Packard CJ,Humphries SE (2012) The effects of a single nucleotide polymorphism in SLCO1B1 on the pharmacodynamics of pravastatin. Br J Clin Pharmacol, 73(2), 303 - 306. 10.1111/j.1365-2125.2011.04090.x.
  30. Angelakopoulou A,Shah T,Sofat R,Shah S,Berry DJ,Cooper J,Palmen J,Tzoulaki I,Wong A,Jefferis BJ,Maniatis N,Drenos F,Gigante B,Hardy R,Laxton RC,Leander K,Motterle A,Simpson IA,Smeeth L,Thomson A,Verzilli C,Kuh D,Ireland H,Deanfield J,Caulfield M,Wallace C,Samani N,Munroe PB,Lathrop M,Fowkes FG,Marmot M,Whincup PH,Whittaker JC,de Faire U,Kivimaki M,Kumari M,Hypponen E,Power C,Humphries SE,Talmud PJ,Price J,Morris RW,Ye S,Casas JP,Hingorani AD (2012) Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration. Eur Heart J, 33(3), 393 - 407. 10.1093/eurheartj/ehr225.
  31. Harrison SC,Cooper JA,Li K,Talmud PJ,Sofat R,Stephens JW,Hamsten A,HIFMECH Consortium ,Sanders J,Montgomery H,Neil A,Simon Broome Research Consortium ,Humphries SE (2012) Association of a sequence variant in DAB2IP with coronary heart disease. Eur Heart J, 33(7), 881 - 888. 10.1093/eurheartj/ehr075.
  32. Sanders JS,Skipworth JR,Cooper JA,Brull DJ,Humphries SE,Mythen M,Montgomery HE (2012) Duration of preceding hypertension is associated with prolonged length of ICU stay. Int J Cardiol, 157(2), 180 - 184. 10.1016/j.ijcard.2010.12.011.
  33. Humphries SE (2012) Out with print in with e publication: Editor in Chief's Report for Atherosclerosis for 2012. Atherosclerosis. 10.1016/j.atherosclerosis.2012.12.004.
  34. Humphries SE (2012) Out with print in with e publication: Editor in Chief's Report for Atherosclerosis for 2012. Atherosclerosis. 10.1016/j.atherosclerosis.2012.12.004.
  35. Gaunt TR,Shah S,Nelson CP,Drenos F,Braund PS,Adeniran I,Folkersen L,Lawlor DA,Casas JP,Amuzu A,Kivimaki M,Whittaker J,Eriksson P,Zhang H,Hancox JC,Tomaszewski M,Burton PR,Tobin MD,Humphries SE,Talmud PJ,Macfarlane PW,Hingorani AD,Samani NJ,Kumari M,Day IN (2012) Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip. Circ Cardiovasc Genet, 5(6), 630 - 638. 10.1161/CIRCGENETICS.112.962852.
  36. Harrison SC,Smith AJ,Jones GT,Swerdlow DI,Rampuri R,Bown MJ,on behalf of the Aneurysm Consortium ,Folkersen L,Baas AF,de Borst GJ,Blankensteijn JD,Price JF,van der Graaf Y,McLachlan S,Agu O,Hofman A,Uitterlinden AG,Franco-Cereceda A,Ruigrok YM,Van't Hof FN,Powell JT,van Rij AM,Casas JP,Eriksson P,Holmes MV,Asselbergs FW,Hingorani AD,Humphries SE (2012) Interleukin-6 receptor pathways in abdominal aortic aneurysm. Eur Heart J. 10.1093/eurheartj/ehs354.
  37. Baldassarre D,Hamsten A,Veglia F,de Faire U,Humphries SE,Smit AJ,Giral P,Kurl S,Rauramaa R,Mannarino E,Grossi E,Paoletti R,Tremoli E,Grp IMPROVES (2012) Measurements of Carotid Intima-Media Thickness and of Interadventitia Common Carotid Diameter Improve Prediction of Cardiovascular Events Results of the IMPROVE (Carotid Intima Media Thickness [IMT] and IMT-Progression as Predictors of Vascular Events in a High Risk European Population) Study JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 60(16), 1489 - 1499. 10.1016/j.jacc.2012.06.034.
  38. Smith AJ,Zheng D,Palmen J,Pang DX,Woo P,Humphries SE (2012) Effects of genetic variation on chromatin structure and the transcriptional machinery: analysis of the IL6 gene locus. Genes Immun, 13(7), 583 - 586. 10.1038/gene.2012.32.
  39. Costelloe SJ,El-Sayed Moustafa JS,Drenos F,Palmen J,Li Q,Whiting S,Thomas M,Kivimaki M,Kumari M,Hingorani AD,Tzoulaki I,Järvelin MR,Ruokonen A,Hartikainen AL,Pouta A,Walters RG,Blakemore AI,Humphries SE,Coin LJ,Talmud PJ (2012) Gene-targeted analysis of copy number variants identifies 3 novel associations with coronary heart disease traits. Circ Cardiovasc Genet, 5(5), 555 - 560. 10.1161/CIRCGENETICS.111.961037.
  40. Futema M,Plagnol V,Whittall RA,Neil HA,Simon Broome Register Group ,Humphries SE,UK10K (2012) Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia. J Med Genet, 49(10), 644 - 649. 10.1136/jmedgenet-2012-101189.
  41. Walker AP,Fowkes RC,Saleh F,Kim SH,Wilkinson P,Cabrera-Sharp V,Talmud PJ,Humphries SE,Looijenga LH,Bouloux PM (2012) Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ. Sex Dev, 6(6), 284 - 291. 10.1159/000342295.
  42. Dweck M,Lee PT,Prasher S,World M,Humphries SE,Pennell DJ,Montgomery HE,Payne JR (2012) A normal range for left ventricular wall thickness and the development of asymmetric thickening in response to exercise EUROPEAN HEART JOURNAL, 33, 1021 - 1021.
  43. Gigante B,Leander K,Strawbridge R,Sennblad B,Veglia F,Baldassarre D,Tremoli E,Humphries SE,Frostegard J,De Faire U,Grp IMPROVES (2012) Low levels of IgM antibodies against phosphorylcholine (anti-PC) increase the risk of ischemic cardiovascular events among European men at high risk of cardiovascular events EUROPEAN HEART JOURNAL, 33, 810 - 810.
  44. Masi S,Nightingale CM,Day IN,Guthrie P,Rumley A,Lowe GD,von Zglinicki T,D'Aiuto F,Taddei S,Klein N,Salpea K,Cook DG,Humphries SE,Whincup PH,Deanfield JE (2012) Inflammation and not cardiovascular risk factors is associated with short leukocyte telomere length in 13- to 16-year-old adolescents. Arterioscler Thromb Vasc Biol, 32(8), 2029 - 2034. 10.1161/ATVBAHA.112.250589.
  45. Harrison SC,Holmes MV,Humphries SE (2012) Mendelian randomisation, lipids, and cardiovascular disease. Lancet, 380(9841), 543 - 545. 10.1016/S0140-6736(12)60481-4.
  46. Swerdlow DI,Holmes MV,Harrison S,Humphries SE (2012) The genetics of coronary heart disease. Br Med Bull, 102, 59 - 77. 10.1093/bmb/lds009.
  47. Tang TS,Prior SL,Li KW,Ireland HA,Bain SC,Hurel SJ,Cooper JA,Humphries SE,Stephens JW (2012) Association between the rs1050450 glutathione peroxidase-1 (C > T) gene variant and peripheral neuropathy in two independent samples of subjects with diabetes mellitus NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES, 22(5), 417 - 425. 10.1016/j.numecd.2010.08.001.
  48. Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium ,Hingorani AD,Casas JP (2012) The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet, 379(9822), 1214 - 1224. 10.1016/S0140-6736(12)60110-X.
  49. Nyyssönen K,Kurl S,Karppi J,Nurmi T,Baldassarre D,Veglia F,Rauramaa R,de Faire U,Hamsten A,Smit AJ,Mannarino E,Humphries SE,Giral P,Grossi E,Tremoli E (2012) LDL oxidative modification and carotid atherosclerosis: results of a multicenter study. Atherosclerosis, 225(1), 231 - 236. 10.1016/j.atherosclerosis.2012.08.030.
  50. Prior SL,Clark AR,Jones DA,Bain SC,Hurel SJ,Humphries SE,Stephens JW (2012) Association of the PGC-1α rs8192678 variant with microalbuminuria in subjects with type 2 diabetes mellitus Disease Markers, 32(6), 363 - 369.

Qualifications

  • 1974: Doctor of Philosophy, Beatson Institute for Cancer Research
  • 1971: Bachelor of Science, University of Sussex

Keywords

  • Acute myocardial infarction
  • Angina
  • Anti-sense and morpholino approaches
  • Atherosclerosis
  • Bioinformatics
  • Biomarker
  • Biostatistics
  • Calcium imaging
  • Cardiovascular
  • Cell culture
  • ChIP-Chip
  • ChIP-Seq
  • Chromatin immunoprecipitation
  • Computational modeling
  • Computational models
  • Coronary disease
  • Coronary disease
  • Cytokine assays
  • Cytokines
  • Diabetes
  • Diabetes
  • ELISA
  • Enzyme assays
  • Epidemiology
  • Epigenetics
  • Evidence-based healthcare
  • Fetal growth restriction
  • Genetic manipulation (including knockout/knockin)
  • Genetic screens
  • Genetically encoded reporters/indicators
  • Genetics
  • Genomewide association analysis
  • Genomic analyses
  • Genomics
  • Heart disease
  • Human cell culture
  • In vivo models
  • Inflammation
  • Ischaemic heart disease
  • Ischaemic heart failure
  • Linkage, mapping and positional cloning
  • Lipid
  • Lipoproteins
  • MRNA
  • Mathematical modelling
  • Mendelian randomisation
  • Meta-analysis
  • Meta-analysis
  • Metabolic syndrome
  • Microarrays
  • Molecular epidemiology
  • Mouse
  • Networks
  • Nutrition
  • Obesity
  • Obesity
  • Oral Disease
  • Oxidative stress
  • Pathology
  • Pharmacogenomics
  • Population
  • Prognostic markers
  • Protein misfolding
  • Public health
  • QPCR
  • Recombinant protein expression
  • Smoking
  • Statistics
  • Statistics
  • Stroke
  • Survey methods
  • Systematic review
  • TGF-beta
  • Transcription factor
  • Transgenic mice
  • Vitamin D
  • Western blotting