Shahid Imran, Javed Faqeeha, Shehzadi Abida, Munsif Jaweria, Ali Shahid Ahmad, Shafique Muhammad
Forensic DNA Typing Laboratory, Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Faculty of Rehabilitation and Allied Health Sciences, Riphah International University, Lahore, 54660, Pakistan.
Sci Rep. 2025 May 24;15(1):18101. 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.
巴基斯坦北部的一个与世隔绝的群体卡拉什人的基因起源长期以来一直是一个争论的话题。本研究旨在利用包括22个常染色体和23个Y染色体短串联重复序列(STR)在内的一组先进的基因数据,调查卡拉什人的基因多样性和祖先组成。我们通过研究他们独特的等位基因,并将其与其他区域和全球人群进行比较,以梳理他们的系统发育关联,从而阐明他们的历史迁移以及与古代人群的潜在联系。基于常染色体STR数据,卡拉什人群体显示出与亚洲人、欧洲人和非洲人不同的独特基因结构,然而,Y-STR单倍群显示出其与欧亚-印度-伊朗复合种群的古老联系。我们发现,卡拉什人群体是在经历重大基因漂变后保留文化多样性的一个例子,与西欧亚人群有一定亲缘关系,且与印度和印欧裔巴基斯坦人群没有种群混合。本研究强调了保护这个与世隔绝社区的基因和文化遗产的重要性。未来的研究应基于纵向研究,以调查他们的迁移模式以及影响其健康和适应性的基因与环境因素的相互作用。此外,应开展与世界其他与世隔绝人群的比较研究。