New Delhi: The concept of unity in diversity best fits India, not only for its culture, society and religion, but also for its gene pool. Research has revealed that certain Thalasemmia, a blood disorder, and genetic markers are exclusive to Indian population. It has also found that for Indians, genetic similarity makes them more susceptible to risk of diseases.
Indian scientists across the globe conducted genome sequencing of 1,267 Indian individuals, of which 598 represented 55 ethnic population groups, found that individuals were related to each other by lineage and descent. The study published in Nature Journal on Thursday, identified previously unknown variants that pre-dispose individuals to higher risk for cancer development and other diseases specific to Indian population groups, previously not known, such as Thalasemmia.
The research was done by scientists from National Institute of Biomedical Genomics, in association with the GenomeAsia 100k consortium, a non-profit international research consortium and its founder partner MedGenome, a genomics-driven research and diagnostics company based in Bengaluru.
“We identified variants that pre-dispose individuals to higher cancer risk. Once this part of the work is expanded, the data from this can be used to screen individuals to understand the disease risk and provide appropriate monitoring and proactive treatment," said Sam Santhosh, chief executive officer MedGenome and author of the study.
During the research it was found that few specific genetic variants in HBB gene causing β-thalassaemia, an inherited blood disorder, and HBB gene, a disease causing variant that was quite exclusive to Indian population groups. HBB gene has significance as it provides instructions for making a protein called beta-globin, a component of hemoglobin.
“This has important implications for population level genetic screening and disease management that can lead to a healthy society with reduced disease burden. The over 63 million DNA variation reported by this project is an important resource for identifying disease relevant variants in Asian-Indians," said Partha Majumder, Professor at National Institute of Biomedical Genomics.
Scientists claim that the 3.2 billion bases across the globe that make up the DNA sequence of human genomes provide a rich evolutionary archive of the similarities and differences between any two individuals. The sequence differences, representing only 0.1% of the genomes, contribute significantly to the observed differences between individuals. They also account for the differences in susceptibility to various diseases within and among population groups.
“We found variants linked to increase in adverse effect in individuals for certain drugs. Understanding this will allow doctors to provide alternate safer drugs to such patients," said Santhosh.
According to scientists, the practice of endogamy, marriage within select social or caste groups over 1000 years, has led to a higher burden of population specific recessive disorders in India. “The data from this study besides helping understand the population groups has already proved to be a great resource for disease gene discovery in an ongoing analysis of over 1500 familial inherited disorder cases" said Sekar Seshagiri, co-author on the study and President, SciGenom Research Foundation, India.
The researchers found that population groups were similar to the Finnish population group where many disease gene discoveries were made. The Finnish-equivalent Indian groups are going to be a great resource for disease gene discovery and they will aid in target identification, drug development and disease management, the study said.