Analysis of Y-Chromosomal STR Variation Reveals High Paternal Genetic Diversity in Albanian Populations

Abstract

The Albanian population occupies an important position within the genetic landscape of the Balkan Peninsula. The present study investigates the Y-chromosomal genetic diversity and forensic characteristics of Albanian male populations using Y-chromosomal Short Tandem Repeat (Y-STR) markers. A total of 170 unrelated male individuals from different geographic regions of Albania were analysed using a multiplex Y-STR panel to assess allele variation, haplotype diversity, forensic efficiency, and internal population structure. The analysis identified 151 different haplotypes, including 136 unique haplotypes, indicating substantial paternal lineage heterogeneity. The overall haplotype diversity was 0.9979 ± 0.0018, demonstrating high Y-chromosomal variability within the studied population. The discrimination capacity was 0.8779, while the match probability was 0.0079. Combined forensic parameters showed near-complete discriminatory performance, with combined power of discrimination and combined power of exclusion approaching 1.000. The analysed loci DYS385, DYS458, DYS456, and DYS635 exhibited the highest polymorphism and forensic informativeness, whereas DYS392 and DYS391 showed lower allelic diversity. Concerning the haplogroup distribution the population was characterized by the predominance of E1b1b-V13, followed by J2b2-M241, I2a, R1b, and R1a, representing the principal paternal lineages of the Albanian population. These haplogroups are widely recognized as characteristic components of the western Balkan genetic landscape and provide evidence of long-term paternal lineage continuity in the region. Comparative analysis of haplogroup frequencies and multivariate clustering suggested regional variation between Gegë and Toskë population groups, indicating the presence of internal paternal genetic structuring within Albania. These findings provide new reference data for Albanian Y-chromosomal diversity and highlight the high forensic utility of Y-STR markers. The study contributes to the understanding of paternal genetic structure in Albania and offers valuable data for forensic genetics, population genetics, and comparative Balkan genetic research.

Received: 25 March 2026  │  Accepted: 12 June 2026  │  Published: 23 July 2026