Unity in diversity: an overview of the genomic anthropology of India

Abstract

Context: India is considered a treasure for geneticists and evolutionary biologists due to its vast human diversity, consisting of more than 4500 anthropologically well-defined populations (castes, tribes and religious groups). Each population differs in terms of endogamy, language, culture, physical features, geographic and climatic position and genetic architecture. These factors contributed to India-specific genetic variations which may be responsible for various common diseases in India and its migratory populations.As a result, interpretations of the origins and affinities of Indian populations as well as health and disease conditions require complex and sophisticated genetic analysis.Evidence of ancient human dispersals and settlements is preserved in the genome of Indian inhabitants and this has been extensively analysed in conventional and genomic analyses.Objective and Methods: Using genomic analyses of STRs and Alu on a set of populations, we estimate the level and extent of genetic variation and its implications.Results: The results show that Indian populations have higher level of unique genetic diversity which is structured by many social processes and geographical attributes of the country.Conclusion: This overview highlights the need to study the anthropological structure and evolutionary history of Indian populations while designing genomic and epigenomic investigations.

The promise of discovering population-specific disease-associated genes in South Asia

“…South Asia is a region of extraordinary diversity, containing over 4,600 anthropologically well-defined groups many of which are endogamous communities with significant barriers to gene flow due to cultural practices that restrict marriage between groups 1 . Of the tiny fraction of South Asian groups that have been characterized using genome-wide data, many exhibit large allele frequency differences from close neighbors [2][3][4] , consistent with strong founder events whereby a small number of ancestors gave rise to many descendants today 4 .…”

Genetic analysis of novel Alu insertion polymorphisms in selected indian populations

“…These conclusions are strongly supported by other studies on STR, Alus, mtDNA, Y chromosome and other expansive genome-wide evaluations of Indian populations (Basu et al 2003;Sahoo et al 2006;Reich et al 2009;Chaubey et al 2011;Mastana, 2014;ArunKumar et al 2015). Further populations studies are required on these Alus to deconvolute the level and extent of genetic variation and population origins.…”

“…Since the dispersal of humans from Africa, India has experienced large amounts of migration from many different populations resulting in a melange of ethnicities and cultural practices. In turn, this has led to both genetic divergences and convergences between sub populations within India ( (Majumder et al 1999;Basu et al 2003;Sahoo et al 2006;Reich et al 2009;Mastana, 2014;ArunKumar et al 2015).…”

Genetic Affinity of the Bhil, Kol and Gond Mentioned in Epic Ramayana

“…Thus, the strict endogamy and social structure make South Asia much more complex, unlike to Europe, where genetic analysis of a population can predict the genetic structure of immediate neighbor with some confidence. In recent years, there has been an increase in the number of in-depth genetic studies focussing on the genetic structure of the populations of India [35,37,40–48], but none of them have related specific tribal populations mentioned in the traditional literatures.…”