Genetic polymorphisms in autochthonous Basques from northern Navarre

Area of Science:

• Population genetics
• Anthropology
• Human genetics

Background:

• The Basque population, particularly in Northern Navarre, remains understudied anthropologically and genetically.
• This region has ancient Basque settlement and retains a strong connection to the Basque language (Euskera).

Purpose of the Study:

• To determine classical allele frequencies for ten protein-coding genetic systems in a Northern Navarrese Basque population sample.
• To analyze the genetic structure of Northern Navarrese within the broader Basque population context.
• To investigate the potential of Northern Navarrese Basques as representatives of the ancient Basque population.

Main Methods:

• Analysis of 122 blood samples from unrelated individuals with at least third-generation autochthonous Navarrese ancestry.
• Typing of ten genetic systems: GC, HP, PI, TF, ACP1, AK1, CA2, ESD, PGD, and PGM1.
• Genetic structure analysis using Basque surnames and birthplaces to define origins, and comparison with other Basque groups, including GM allotypes.

Main Results:

• Northern Navarre exhibits genetic deviation compared to other Basque groups, with the highest differentiation from Alava Basques and lowest genetic distance from Guipúzcoa.
• Distinctive genetic characteristics observed in Northern Navarrese include high frequencies of PI*M1 and TF*C1, and low frequencies of PGD*C and PGM1*2 alleles.
• Integration with GM allotype data reinforces the genetic positioning of Navarrese Basques and the Basque cluster.

Conclusions:

• Northern Navarrese Basques possess unique genetic markers differentiating them from other Basque populations.
• The genetic profile of Northern Navarrese aligns with historical and linguistic evidence, positioning them as strong candidates for representing the ancient Basque anthropological and genomic distinctiveness.