A first of its kind Genome sequencing of 1,267 individuals from Asia, which includes 598 individuals representing 55 ethnic groups spanning across major language groups from the Indian subcontinent, may provide key answers to finding cure for many diseases endemic to India and other Asian countries.
The GenomeAsia 100k consortium report, published in the December 5 issue of the renowned scientific journal 'Nature', says it has found over 63 million DNA variations and is an important resource for identifying disease relevant variants in Asian-Indians. Scientists from the National Institute of Biomedical Genomics at Kalyani in West Bengal and MedGenome, a Bangalore-based genomics-driven research and diagnostics company, are part of the GenomeAsia 100k consortium project.
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.
"Genomic analysis of our unique population groups and disease cohorts will lead to identification of genetic mutations and drug targets not just for India but for the whole world," said Sam Santhosh, CEO, MedGenome.
The three million bases that make up the DNA sequence of our genomes help us know the evolution, similarities and differences between any two individuals. The sequence differences, though representing only 0.1 per cent of the genomes, helps in observing differences between individuals and the differences in susceptibility to various diseases within and among population groups. These variations alter the risk for inherited disorders and also predicts adverse drug effects.
Earlier, an analysis by the Madras Diabetes Research Foundation, Chennai, using the variation database from this study, had identified key genetic alterations that contribute to maturity onset diabetes of the young (MODY) in southern India.
The underrepresentation of non-Europeans in human genetic studies so far has limited the diversity of individuals in genomic datasets and led to reduced medical relevance for a large proportion of the world's population. Population-specific reference genome datasets as well as genome-wide association studies in diverse populations are needed to address this issue, said the report.
The first stage of GenomeAsia 100k, a grouping of population experts and bioinformatics specialists, aims to sequence 10,000 Asian individuals and will be followed by sequencing an additional 90,000 individuals to allow deeper analysis of diseased and healthy individuals.