Edinburgh Research Explorer

Jim Wilson

Personal Chair of Human Genetics

Profile photo


Jim Wilson is affiliated both to the Usher Institute and the MRC Human Genetics Unit. Of Fair Isle heritage, he grew up in Orkney where he attended the Kirkwall Grammar School, before reading genetics at the University of Edinburgh. After a year working with Svante Pääbo in Bavaria, Jim went up to New College in Oxford where he completed a DPhil in human population genetics with David Goldstein. Jim moved back to Edinburgh in 2003 after a stint at University College London, to take up a Royal Society University Research Fellowship. He has published over 190 peer-reviewed journal articles, 40 of which were in the top genetics journal Nature Genetics, 10 in Nature and 2 in Science. His ISI Web of Science h-index is 60, his m-value is 3.4, and he is a Thomson-Reuters highly cited researcher (highlycited.com) for 2014 and 2015. Over the last decade Jim led two large genetic epidemiology studies in Orkney and Shetland. These platform resources for health research benefit from rich phenotyping, deep genotyping, a tissue biobank and prospective follow up through record linkage and have contributed to the discovery of over 1000 novel associations. More recently he has initiated a number of international consortia to explore interests in the genetic architecture of complex traits. Jim is engaged in science communication principally through radio and TV series explaining genetics to the public (e.g. Blood of the Vikings, On the Ocean, Is it better to be mixed race?, Gatwick Baby, British More or Less, Twincredibles, Meet the Izzards, the IFTA-winning Blood of the Irish and Blood of the Travellers, a book and radio series, The Scots, A Genetic Journey) and has been involved in the genetic ancestry testing business for over decade.

My research in a nutshell

Research in my group spans the interface of population and disease genetics, with a focus on the genetic architecture of complex traits and the identification of genetic variants influencing quantitative risk factors for common diseases such as heart disease and diabetes. I am particularly interested in high kinship isolate populations which have increased utility for rare variant discovery, but we also make use of the UK Biobank and Generation Scotland resources.

My major research interest is in homozygosity and the potential role of recessive genetic variants in determining disease risk – I steer an international consortium of 102 cohort studies and ~350,000 research participants (ROHgen) which seeks to understand the effect of inbreeding depression on complex traits. After developing the methods to measure homozygosity and describing the global distribution, we demonstrated an effect of genome-wide homozygosity on height and cognition, implying they have been subject to directional selection during human evolution. We are now focussing on understanding the mechanism and delineating further the scope of inbreeding depression in humans, as well as attempting to map the effects we see to particular regions of the genome.

I also lead a second international consortium, Ygen, which is assessing the influence of Y chromosome variation on complex traits in >100 cohorts. Using exome chip markers I designed, we are surveying a broad range of medical and evolutionary traits for Y chromosome effects, which have been routinely ignored in genome-wide association studies. I have recently inaugurated the KinGen partnership of 26 cohort studies with high kinship, to facilitate the large scale application of new methods to these special cohorts.

Longevity is a growing area of interest in our group, being in various ways the ultimate complex trait; we are engaged in studies of heritability, association and biomarker prediction. Other research themes in my group at present include the genetics of fat distribution, retinal vessel traits and fertility.

I run a study of Multiple Sclerosis in Orkney and Shetland, focussing both on genetics and the role of vitamin D. A final strand of activity is in population genetics, particularly focussed on the genetic history of the British Isles, where I was the first to discover genetic evidence for Norse Viking ancestry.

Highlighted research outputs

  1. The genetic landscape of Scotland and the Isles

    Research output: Contribution to journalArticlepeer-review

  2. Associations of autozygosity with a broad range of human phenotypes

    Research output: Contribution to journalArticlepeer-review

  3. Runs of homozygosity: windows into population history and trait architecture

    Research output: Contribution to journalArticlepeer-review

  4. Directional dominance on stature and cognition in diverse human populations

    Research output: Contribution to journalArticlepeer-review

  5. Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity

    Research output: Contribution to journalArticlepeer-review

View all (317) »

ID: 13715