Blending borders: reconstructing the genetic history of the Sindhi population

Abstract

Sindhis are an Indo-Aryan ethnolinguistic community primarily associated with the Sindh region of present-day Pakistan. The Sindhi community is celebrated for its vibrant culture, unique dialect, and notable accomplishments in commerce and the arts, reflecting a rich historical legacy. Following the partition of India in 1947, many Sindhis migrated from the Sindh region to India and around the world, establishing diaspora communities. Previous genetic studies on Sindhis have focused on those residing in Pakistan, with a notable lack of genome-wide research specifically addressing Indian Sindhis. In this study, we investigated the demographic history of Sindhi populations across India and Pakistan by analysing hundreds of thousands of biallelic markers from 113 Indian Sindhi individuals, alongside existing data from Pakistani Sindhis. Our allele frequency analysis revealed strong genetic connections between Sindhi populations in Pakistan and India. Haplotype-based assessments further confirmed recent shared ancestry between these groups and highlighted genetic similarities with neighbouring populations. Identity-by-descent (IBD) analyses reinforced the close genetic relationships between Indian and Pakistani Sindhis, as well as their ties to nearby Pakistani groups. Interestingly, analysis of Runs of Homozygosity (RoH) revealed distinct patterns of marriage practices, suggesting that Pakistani Sindhis exhibit higher homozygosity, likely due to the prevalence of consanguineous marriages. Additionally, local ancestry analysis identified a dominant ancestral component associated with modern populations of the Indus Valley region. The results illuminate the complex genetic structure of the Sapta-Sindhu region and trace the origins of Sindhi Diaspora communities back to the ancient region of Sindh.