Cyprus Maps Its Population’s Genetics: CYPROME Project Moves Beyond the Lab

The idea of "mapping" the DNA of an entire nation sounds like science fiction, but in Cyprus, it is already a reality. The biobank.cy Center of Excellence at the University of Cyprus is implementing the large-scale CYPROME project — creating a reference genome for the Greek Cypriot population.

The project's goal is to identify genetic variants associated with diseases and establish a reliable "genetic baseline" for the country.

Why a "Reference Genome" Is Necessary

Without understanding how frequently a specific mutation occurs within the local population, it is impossible to correctly assess its clinical significance. Currently, many genetic diagnoses worldwide rely on international databases, such as British or American ones. However, small populations like the Cypriot one are underrepresented. This can lead to misinterpretation: a mutation might be labeled as pathogenic when it is actually common for that specific region.

The CYPROME project aims to solve this problem.

Initial Results: 5% of Participants Carry Clinically Significant Variants

The first published study examined 81 genes associated with diseases for which medical intervention is possible. Out of 1,446 individuals analyzed:

• 42 different genetic variants were identified,
• 73 people (about 5%) were found to be carriers of mutations related to potentially manageable diseases.

Extrapolating this to the entire population could mean roughly 50,000 people per million residents.

To date, about 13,000 samples have been collected, with approximately 1,500 analyzed. The work is designed for the long term.

Cardiomyopathies — The Most Frequent Category

The highest number of pathological genotypes identified was related to cardiomyopathies. In some cases, biobank volunteers showed clinical symptoms but were unaware of the genetic basis. Scientists emphasize that this often involves more than just a predisposition; these are hereditary diseases that change the approach to treatment and family counseling.

MODY 3 Diabetes and the "Founder Effect"

Of particular interest was the HNF1A gene, associated with MODY 3 diabetes. Data suggests a possible "founder effect" — a situation where a mutation that arose in the past gradually spreads through a population. Cypriot data contributes to international research where this mutation previously faced contradictions.

Kidney Diseases: A Paphos Region Characteristic

Although nephropathies were not included in the first publication, they remain a vital focus for biobank.cy. Special attention is paid to a disease linked to the MUC1 gene, which is more common in the Paphos region and is diagnosed exclusively through molecular methods. Research has already aided in developing new therapeutic approaches.

What This Means for the Healthcare System

The CYPROME project is a step toward personalized medicine in Cyprus. A local genetic database will allow for:

• More accurate diagnoses,
• Early disease detection,
• Correct assessment of hereditary risks,
• Prevention programs based on real population data.

Despite its size, Cyprus has historically been at the crossroads of migration, making it genetically unique and scientifically significant.