MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

Croatia Population Cohorts

Family-based, cross-sectional genetics population cohort studies from the Croatian Island of Korčula and the mainland city of Split.

Croatia skyline

We have performed extensive genetic analyses in samples obtained from adult volunteers from the islands of Korčula and Vis, and the city of Split on the Dalmatian coast of Croatia. This is in collaboration with colleagues at the Centre for Global Health, University of Split (Principal investigators Professor Igor Rudan, Professor Ozren Polašek) and the University of Edinburgh (Principal investigator Professor Harry Campbell). The advantages of studying such populations include the high rates of participation, relatively uniform environment, suitable genetic characteristics of the population (e.g. increased kinship) and ability to recruit families.

We have measured many hundreds of biomedically-relevant quantitative traits in all members of the population isolates, with “omics” in subsets, and estimated the genetic parameters influencing each trait. We have carried out single nucleotide polymorphism (SNP) genome-wide association studies (GWAS) and led international GWAS consortia.

We acknowledge the invaluable contributions of the recruitment teams in Croatia (including those from the Institute of Anthropological Research in Zagreb and the Croatian Centre for Global Health at the University of Split), the administrative teams in Croatia and Edinburgh and the people of Vis, Korčula and Split.

Our study data and materials have been the subject of many internal and external collaborations. We welcome more applications to work with us on our datasets. All agreed proposals are conducted in collaboration with appropriate members of the University of Edinburgh team.

Broad informed consent was obtained from all participants. Summary data from specific projects have been deposited in the open access DataShare repository:

University of Edinburgh DataShare Repository

We have generated exome and whole genome sequence data for members of our cohorts. These datasets have been deposited in the European Genome-phenome Archive under the management of the QTL Data Access Committee.

European Genome-phenome Archive (External Link)


If you wish to work with any of these datasets, please email: 

Key Publications

  1. Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases. Sci Adv. 2020 Feb 19;6(8):eaax0301. PMID: 32128391
  2. Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin J Am Soc Nephrol. 2022 Mar;33(3):511-529. doi: 10.1681/ASN.2021040491. PMID: 35228297
  3. Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets. Nat Immunol. 2023 Sep;24(9):1540-1551. doi: 10.1038/s41590-023-01588-w. Epub 2023 Aug 10. PMID: 37563310
  4. Genetic regulation of post-translational modification of two distinct proteins. Nat Commun. 2022 Mar 24;13(1):1586. doi: 10.1038/s41467-022-29189-5. PMID: 35332118
  5. Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. Nat Genet. 2019 Oct;51(10):1459-1474. doi: 10.1038/s41588-019-0504-x. Epub 2019 Oct 2. PMID: 31578528

Partners and Funders

The CROATIA-Korcula and CROATIA-Split studies were funded by grants from the Medical Research Council (UK), from the Republic of Croatia Ministry of Science, Education and Sports (108-1080315-0302; 216-1080315-0302) and the Croatian Science Foundation (8875). The CROATIA-Korčula genotyping was funded by the European Union framework program 6 project EUROSPAN (LSHGCT2006018947).