Largest-ever study of Indian Genomes reveals 50,000 years of generic history, disease risk
A new genomic study has provided the most detailed analysis yet of India’s genetic diversity, revealing complex ancestry patterns and previously unknown links to disease. The study analyzed the complete genomes of 2,762 individuals from across India, representing a wide range of ethnic, linguistic, and regional groups.
The research was conducted by scientists from UC Berkeley, AIIMS New Delhi, USC, and the University of Michigan, and published on June 26 in the journal, Cell. It is part of the Longitudinal Aging Study in India–Diagnostic Assessment of Dementia (LASI-DAD).
The findings show that most genetic variation in India can be traced back to a single human migration from Africa around 50,000 years ago. These early populations interbred with Neanderthals and Denisovans before spreading across Asia. Indian genomes were found to contain a broader variety of Neanderthal DNA than any other population studied so far, allowing researchers to reconstruct about 50% of the Neanderthal genome and 20% of the Denisovan genome.
The study also confirmed that genetic mixing in India included three ancient population groups: local hunter-gatherers, Neolithic farmers from Central Asia, and steppe pastoralists. This mixture shaped the modern Indian gene pool.
However, starting around 3,500 years ago, many Indian groups became more genetically isolated due to endogamy, or marriage within specific communities. This led to population bottlenecks, increasing the presence of harmful genetic variants in some groups. One example is a mutation in the BCHE gene that causes severe reactions to certain anesthetics. It is common in the Vysya community but rare elsewhere in the country.
Researchers also identified rare, community-specific genetic variants linked to diseases such as blood disorders, hearing loss, cystic fibrosis, and phenylketonuria. These findings may improve future screening and treatment strategies in India.
The study fills a major gap in global genetics, where Indian populations have been underrepresented. Further analysis of the LASI-DAD genomes is ongoing to investigate aging, disease risk, and population-specific health trends.
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