Newsroom
A major research project in Cyprus has identified, for the first time, genetic changes in the local population that could help doctors spot serious inherited health risks earlier and improve prevention and treatment.
The findings were announced on Thursday by biobank.cy, the Centre of Excellence based at the University of Cyprus, after researchers examined DNA data from 1,446 people from across the island.
What the researchers looked for
Genes are like instruction manuals inside the body. Sometimes, a small “spelling change” appears in the genetic code. Most of these changes are harmless, but some are known to increase the risk of certain diseases.
The biobank.cy team focused on 81 specific genes that the American College of Medical Genetics (ACMG) considers especially important because changes in them are linked to diseases that doctors can actually do something about. These are often called “actionable genes,” meaning that if a risky variant is found, steps can be taken to prevent illness, catch it early, or treat it more effectively.
The diseases involved include heart and blood vessel disorders, hereditary cancers, and metabolic conditions.
Key results: 1 in 20 carries a medically useful variant
The study found that 5.05% of participants, about 1 in every 20 people, carried at least one genetic variant considered medically useful.
Researchers also identified 119 additional individuals who had genetic changes that may be important, but where scientists are not yet fully sure how harmful or actionable they are.
In total, the team recorded 42 genetic variants that could be medically useful. Of these:
- 4 were found only in Cyprus
- 19 appeared mainly in Cyprus, suggesting they are unusually common in the Cypriot population
Many of the variants were linked to cardiovascular disease and hereditary cancer, with examples including changes in the LDLR gene, which is associated with cholesterol-related heart problems, and the PALB2 gene, which is linked to inherited cancer risk.
A “founder effect” may explain Cyprus-specific patterns
The researchers said the presence of certain variants that are rare elsewhere but common in Cyprus could point to what scientists call a founder effect, where a genetic change becomes more widespread over generations because it started in a smaller ancestral population.
They also reported that around 60% of the people carrying these variants showed the kinds of health characteristics doctors would normally expect based on ACMG guidelines.
Why it matters for public health
biobank.cy said the results suggest that inherited risk factors for serious but manageable illnesses occur in Cyprus at levels similar to those seen internationally.
The Centre said identifying these variants early could help people take action sooner through:
- earlier diagnosis and prediction of risk
- prevention strategies tailored to the individual
- regular monitoring
- personalised treatments rather than a “one-size-fits-all” approach
The findings also strengthen the case for Cyprus moving further toward personalised medicine, where care is based partly on a person’s genetic profile.
Part of Cyprus Human Genome Project
The study is part of CYPROME – the Cyprus Human Genome Project, a national initiative aiming to map the DNA makeup of the Cypriot population in detail.
The long-term goal is to create the first Cypriot genomic reference model, which would allow researchers and health authorities to better understand what genetic risks are most common locally. biobank.cy said this could eventually support health policy planning, prevention programmes, and future medical research designed specifically for Cyprus.
Ethical approval and funding
The research included voluntary participants from across Cyprus and was approved by the Cyprus National Bioethics Committee. biobank.cy said the study followed the EU’s General Data Protection Regulation (GDPR) rules for privacy and data handling.
Funding came from the European Commission, the Republic of Cyprus, and the University of Cyprus, under the EU’s Horizon 2020 programme.
The study was recently published in the scientific journal Genomics by Elsevier. Read it here.
