Western Australian Institute for Medical Research (WAIMR)


Dr Steven Wiltshire

Steven Wiltshire

Dr Wiltshire completed his Bachelor of Arts (Hons) in Biochemistry at Oxford University in 1988, followed by a Doctor of Philosophy in Biochemistry / Structural Biology and a Master of Science in Human Biology. He staid on at Oxford, working first in the Nuffield Department of Medicine, and later at the Wellcome Trust Centre for Human Genetics. During this time he was involved in investigating the statistical genetics of asthma and related phenotypes in the Busselton Family Health Study, researching linkage disequilibrium mapping of complex traits in humans, and looking at the statistical genetics of type 2 diabetes. Dr Wiltshire joined WAIMR as a Senior Lecturer in late 2006, where he is working on a number of projects including the genetic epidemiology of asthma, cardiovascular disease, schizophrenia and Type 2 diabetes.


1988BA (First Class) - Biochemistry, Oxford University, United Kingdom
1992PhD - Department of Biochemistry, Oxford University, United Kingdom
1996MSc (Distinction) - Human Biology, Oxford University, United Kingdom

Research Interests

  • Genetic epidemiology of asthma, cardiovascular disease, schizophrenia and type 2 diabetes
  • The role of gene-gene interactions in complex disease
  • Statistical and methodological issues relevant to the analysis of human genetic data
  • Higher order models of linkage disequilibrium in humans

Top 10 Publications

  1. Wiltshire S, de Bakker PIW, Althsuler D, Daly MJ. 2006. The value of gene-based selection of tag SNPs in genome-wide association studies for complex traits. Eur J Hum Genet doi: 10.1038/sj.ejhg.5201678.
  2. Groves CJ, Zeggini E, Jayne Minton J, Frayling TM, Weedon MN, Rayner NW, Hitman GA, Walker M, Wiltshire S, Hattersley AT, McCarthy MI. 2006. Association analysis of 6736 UK subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk. Diabetes 55:2640-2644.
  3. Calle R, McCarthy MI, Banerjee P, Zeggini E, Cull C, Thorne K, Wiltshire S, Terra S, Meyer D, Richmond J, Mancuso J, Milos P, Fryburg D, Holman R. 2006. Effect of Paraoxonase2 (PON2) Polymorphisms on Development and Progression of Diabetic Nephropathy in UKPDS Patients. Diabetologia doi: 10.1007/s00125-006-0436-8.
  4. Bell JT, Wallace C, Dobson R, Wiltshire S, Mein C, Pembroke J, Brown M, Clayton D, Samani N, Dominiczak A, Webster J, Lathrop GM, Connell J, Munroe P, Caulfield M, Farrall M. 2006. Two-dimensional genome scan identifies novel epistatic loci for essential hypertension. Hum Mol Genet 15:1365-1374.
  5. Groves CJ, Zeggini E, Walker M, Hitman GA, Levy JC, O'Rahilly S, Hattersley AT, McCarthy MI, Wiltshire S. 2006. Significant linkage of body mass index to chromosome 10p in the UK population and evaluation of glutamate decarboxylase 2 (GAD2) as a positional candidate. Diabetes 55:1884-1889.
  6. Wiltshire S, Bell JT, Groves CJ, Dina, Hattersley AT, Frayling TM, Walker M, Hitman GA, Vaxillaire M, Farrall M, Froguel P, McCarthy MI. 2006. Evidence for interaction between type 2 diabetes susceptibility loci on chromosomes 1q21-25 and 10q23-26 in northern Europeans. Ann Hum Genet doi: 10.1111j.1469-1809-2006.00289.x.
  7. Florez JC, Wiltshire S, Agapakis CM, Burtt N, de Bakker PIW, Almgren P, Bengtsson K, Tuomi T, Gaudet D, Hudson TJ, Daly MJ, Hirschhorn JN, McCarthy MI, Altshuler D, Groop L. 2006. High density haplotype structure and association testing of the insulin degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people. Diabetes 55:128-135.
  8. Wiltshire S, Morris AP, McCarthy MI, Cardon LR. 2005. How useful is the fine-scale mapping of complex trait linkage peaks? Evaluating the impact of additional microsatellite genotyping on the posterior probability of linkage. Genet Epidemiol 28:1-10.
  9. Liew CF, Groves CJ, Wiltshire S, Zeggini E, Frayling TM, Owen KR, Walker M, Hitman GA, Levy JC, O'Rahilly S, Hattersley AT, Johnston DG, McCarthy MI. 2004. Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism. Diabetologia 47:2168-2175.
  10. Dyment DA, Sadovnick AD, Willer CJ, Armb H, Cader ZM, Wiltshire S, Kalman B, Risch N, Ebers GC; Canadian Collaborative Study Group. 2004. An extended genome scan in 442 Canadian multiple sclerosis-affected sibships: a report from the Canadian Collaborative Study Group. Hum Mol Genet 13:1005-1015.
  11. Wiltshire S, Frayling TM, Groves CJ, Levy JC, Hitman GA, Sampson M, Walker M, Menzel S, Hattersley AT, Cardon LR, McCarthy MI. 2004. Evidence from a large U.K. family collection that genes influencing age of onset of type 2 diabetes map to chromosome 12p and to the MODY3/NIDDM2 locus on 12q24. Diabetes 53:855-860.
  12. Demenais F, Kanninen T, Lindgren CM, Wiltshire S, Gaget S, Dandrieux C, Almgren P, Sjogren M, Hattersley A, Dina C, Tuomi T, McCarthy MI, Froguel P, Groop LC. 2003. A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes. Hum Mol Genet 12:1865-1873.
  13. Frayling TM, Wiltshire S, Hitman GA, Walker M, Levy JC, Sampson M, Groves CJ, Menzel S, McCarthy MI, Hattersley AT. 2003. Young-onset type 2 diabetes families are the major contributors to genetic loci in the Diabetes UK Warren 2 genome scan and identify putative novel loci on chromosomes 8q21, 21q22, and 22q11. Diabetes 52:1857-1863.