Ayurgenomics: A New Way of Threading Molecular Variability for Stratified Medicine

Authors: Tav Pritesh Sethi, Mitali Mukerji⁽¹⁾ and Bhavana Prasher⁽²⁾

(1) Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi, India 110007

(2) Planning & Performance Division, Council of Scientific and Industrial Research, Anusandhan Bhawan, 2, Rafi Marg, New Delhi, India 110001

Modern humans evolved in Africa and spread across the world, successfully colonizing perse geographical locations including extremes of latitudes, altitudes, arid and wet conditions as well as regions endemic for different pathogens. Besides geo-climatic conditions, human genomes have also been shaped by an aggregate of sociocultural factors such as admixture, mating patterns, food sources, and dietary habits. 

These footprints of human history in the form of genetic variations reside in our genomes, and many of them have become relatively fixed in the past millions of years in certain populations. Nearly 11 million singlenucleotide polymorphisms (SNPs) have now been catalogued in humans across diverse populations by the International HapMap Consortium. Coupled to this, the individual genome projects have also revealed a large fraction of variations that are specific to an individual. With this enormous amount of variability, it now seems that there are as many human genomes as there are humans. Though a majority of these variations might be neutral, a large number of these differences could contribute to adaptation, phenotypic variability, differences in disease susceptibility, and response to environment even within healthy individuals of a population. With global socioeconomic and cultural changes leading to altered lifestyles, diet patterns, and migration into non-native environments, the effects of advantageous variations could sometimes turn deleterious. A striking example of this is the increased prevalence of cardiovascular diseases in newer generations of African Americans compared to their African ancestors.

This further adds another level of complexity in interpreting the true effects of variations. It has now been proven both at the genetic and expression levels that most of the total variance is due to interindividual differences within populations. Moreover, in any healthy population, we also observe a spectrum of physical and physiological phenotypes, as well as individuals who are differentially predisposed or protected from diseases. Thus, there is a need to mine and identify variations that are physiologically relevant and explain interindividual differences in phenotypes/disease susceptibility, prognosis, response to treatment and consequently study their effects in a context specific manner (continua...)

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