Phylogenetic analysis of the enigmatic Kalash population in Pakistan

• Published in: Scientific reports Vol. 15; no. 1; pp. 18101 - 10
• Main Authors: Shahid, Imran, Javed, Faqeeha, Shehzadi, Abida, Munsif, Jaweria, Ali Shahid, Ahmad, Shafique, Muhammad
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 24.05.2025; Nature Publishing Group; Nature Portfolio
• Subjects: 631/181; 631/181/2474; 631/208; 631/337; Adaptability; Admixture; Chromosomes, Human, Y - genetics; Comparative studies; Cultural heritage; Environmental factors; Ethnicity - genetics; Genetic diversity; Genetic drift; Genetic structure; Genetic Variation; Genetics, Population; Haplotypes; Humanities and Social Sciences; Humans; Kalash; Longitudinal studies; Male; Metapopulations; Microsatellite Repeats - genetics; Multiculturalism & pluralism; multidisciplinary; Pakistan; Phylogenetic analysis; Phylogenetics; Phylogeny; Population genetics; Population studies; Science; Science (multidisciplinary); Short tandem repeats; STRs; Structure analysis; Pakistan; Phylogenetic analysis; Genetic diversity; Kalash; Structure analysis; STRs; Admixture
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-025-94986-z

The genetic origin of the Kalash, an isolated community in northern Pakistan, have long been a subject of debate. This study aimed at investigating the genetic diversity and ancestral composition of Kalash people using an advanced set of genetic data including 22 autosomal and 23 Y chromosomal STRs. We elucidated their historical movements and potential connections to ancient populations by investigating their distinct alleles and comparing them with other regional and global populations to catalog their phylogenetic associations. Based on autosomal STR data, Kalash population demonstrated its unique genetic structure from Asians, Europeans and Africans however, Y-STR haplogroups presented its ancient associations with Eurasian-Indo Iranian metapopulation. We found that the Kalash population is an example of cultural diversity retention following a significant genetic drift, with some affinity to West Eurasian populations and a lack of population admixture with Indian and Indo-European Pakistani populations. This study underscores the importance of preserving the genetic and cultural heritage of this isolated community. Future research should be based on longitudinal studies to investigate their migration patterns and interplay of genetic and environmental factors influencing their health and adaptability. Moreover, comparative studies with other isolated populations worldwide should be instigated.