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March 1, 2026Open Access

Detection of germline variants in human population chronically exposed to high level natural background radiation in Kerala coast

VJVinay Dr. JainBhabha Atomic Research Centre DSDivyalakshmi SainiBhabha Atomic Research Centre TSTatsuhiro ShibataTokyo Medical University

Puntos clave

This research aims to detect genetic effects of long-term exposure to low doses of ionizing radiation in humans living in high natural radiation areas.
Whole exome sequencing of lymphocytes in individuals from high level and normal level natural radiation areas
Comparison of germline mutational changes between the two populations
Analysis of single nucleotide variants and insertions/deletions
No significant difference in the overall number of single nucleotide variants and insertions/deletions between HLNRA and NLNRA
Unique single nucleotide variants were found in HLNRA, particularly in genes related to DNA repair and epigenetic modification
C > T transitions were overrepresented in HLNRA individuals, especially at CpG dinucleotide sites
No increase in potentially pathogenic mutations associated with cancer was observed in HLNRA individuals

Resumen

Abstract Background Genetic effects due to long term exposure to low doses of ionizing radiation (LDIR) in humans are not well understood. Human population living in high level natural radiation areas (HLNRAs) of Kerala coast in India are continuously exposed to chronic LDIR emanating from monazite containing beach sand for many generations. The background radiation level in this area varies from T transitions which were unique to HLNRA group was observed preferentially at CpG dinucleotide regions. Analysis with REVEL and AloFT tools did not show any increase in potentially pathogenic mutations including those involved in carcinogenesis in HLNRA individuals exposed to chronic radiation. Conclusion This study did not show any significant changes in genetic variants due to long term exposure to LDIR in human population living in HLNRAs of Kerala coast. However, presence of unique SNVs and C > T transitions in CpG islands of HLNRA individuals indicate the possible role of epigenetic mechanisms i.e. DNA methylation in response to chronic LDIR in this population. This study significantly enhances the current understanding of radiation induced genetic changes and associated cancer risk in human population.

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