The study identified two major Scottish Traveller groups, likely reflecting Highland and Lowland Traveller ancestry, and found evidence of long-term population isolation.
They also uncovered elevated risks for several rare inherited diseases, with certain genetic variants occurring at much higher frequencies than in the wider Scottish population.
The findings provide new insights into the origins, population structure and health of Scottish Travellers, a historically underrepresented community that has faced centuries of discrimination and exclusion.
Researchers say the results highlight the need for community-led genetic screening and greater clinical awareness of inherited conditions that may be more common among Scottish Travellers than in the wider Scottish population.
Traveller history
Scottish Travellers are a recognised ethnic minority with a rich oral history, unique traditions, and distinct languages. While some continue to travel seasonally, most now live in permanent housing or sites across Scotland.
Despite their longstanding presence in Scotland, little scientific research has explored the community’s genetic origins or inherited health risks. Historical records are sparse, leading to conflicting theories about Traveller ancestry, ranging from indigenous Scottish origins to links with Romani or even Pictish populations.
Community partnership
The Traveller Genes study was established by experts at the University of Edinburgh in partnership with the Scottish Traveller community to address these gaps and ensure the research was conducted respectfully and collaboratively.
Researchers recruited 148 people with at least two Traveller grandparents between 2021 and 2022, collecting saliva samples for detailed DNA analysis.
The team compared Scottish Traveller DNA with samples from settled populations across Britain and Ireland, as well as Irish Travellers, English Gypsies and European Roma groups.
Scottish origin
The study found that Scottish Travellers are genetically distinct from both settled populations and other Traveller groups. Researchers identified two major genetic subgroups, likely reflecting Highland and Lowland Traveller ancestry. One subgroup showed levels of genetic separation from settled Scots comparable to those seen between Scottish and Italian populations.
The analyses supported an indigenous Scottish origin for the community rather than direct descent from Romani populations. Analysis of DNA inherited from a Traveller mother found almost all maternal lineages were European in origin, with many appearing to have deep roots in Scotland.
One maternal lineage, known as T2f1a1, accounted for nearly a quarter of those studied and appears to represent a Traveller-specific Scottish branch.
Researchers also found evidence of long-term population isolation and historical population bottlenecks. The degree of genetic isolation observed in some groups may exceed that seen in isolated island populations such as Orkney and Shetland.
Health risks
The study identified several inherited disease variants occurring at much higher frequencies than in the wider Scottish population, including variants linked to a specific kidney disease, lymphatic disorders and metabolic conditions associated with kidney stones.
Some rare recessive disease variants were more than 1,000 times more common than in the general population.
Researchers say such patterns are often seen in populations with distinctive genetic histories, and stress that many communities around the world, from Icelanders to Finns, have their own particular genetic risk profiles.
They add that the findings highlight the importance of improving awareness among healthcare professionals and exploring culturally sensitive community-based genetic screening programmes.
They stressed that most Scottish Travellers are not carriers for these conditions, but greater awareness could support earlier diagnosis and informed healthcare decisions.