Quantitative traits in health and disease
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 of >100 cohorts, Ygen, which is assessing the influence of Y chromosome variation on complex traits. 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 17 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.
|Professor Jim Wilson||Group Leader|
|Dr Peter Joshi||Chancellor’s Fellow|
|Dr Nicola Pirastu||Chancellor’s Fellow|
Dr Xia Shen
|Kate Schraut||PhD Student|
|Emily Weiss||PhD Student|
|Katie Barnes||PhD Student|
|David Clark||PhD Student|
|Paul Timmers||PhD Student|
|Katherine Kentistou||PhD Student|
genetic architecture, rare variants, GWAS, isolated populations, cohort studies, inbreeding depression, runs of homozygosity, Multiple Sclerosis, vitamin D, bodyfat, retinal vessels, Y chromosome, mtDNA, multi-omics, lifespan, food preferences
The Wilson group is a dry group with expertise in population and quantitative genetics, including genome-wide association, mixed models, polygenic risk scores, quantitative traits, whole genome sequence analysis, pipelining, running cohort studies