Population Cohort Data

QTL Image

The MRC Human Genetucs Unit QTL (Quantitative Trait Locus) in Health and Disease programme has recruited thousands of people to its Scottish and Croatian cohorts. Their special population structures help to improve biological understanding of the causes of variation in complex traits.

Genome – Wide Association Studies (GWAS) have identified many common variants contributing to complex disease. However, a substantial part of genetics in disease remains hidden in rare variants that cannot be easily detected through traditional GWAS.

Rare variants can increase in frequency by drift in isolated populations, facilitating their detection. Due to this, our cohorts focus on these isolated populations.

Rare variants tend to have strong effects, therefore are important for risk stratification in precision medicine. This means they are also well suited to functional follow-up studies.

Our cohorts have a kinship-based structure. This allows us to identify the contribution of genetic variation associated with extended pedigrees.  This helps further understand the role of family environments and their environmental variables, which is crucial for future predictive medicine.

The QTL group also leads collaborative research. We integrate biochemical measures with “omics” data, to understand genes affecting a wide range of traits and disease, including uric acid metabolism, kidney function, eye disease and obesity. Discovering these genes and other traits pinpoints important biological pathways and molecular mechanisms.

All data and samples are generated in line with the Medical Research Council’s (MRC) policy on data sharing in human population cohorts.


More  information on how to access these cohorts: https://www.ed.ac.uk/mrc-human-genetics-unit/research/qtl-group

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