Ethnic India: A Genomic View, With Special Reference to Peopling and Structure

Abstract

We report a comprehensive statistical analysis of data on 58 DNA markers (mitochondrial [mt], Y-chromosomal, and autosomal) and sequence data of the mtHVS1 from a large number of ethnically diverse populations of India. Our results provide genomic evidence that (1) there is an underlying unity of female lineages in India, indicating that the initial number of female settlers may have been small; (2) the tribal and the caste populations are highly differentiated; (3) the Austro-Asiatic tribals are the earliest settlers in India, providing support to one anthropological hypothesis while refuting some others; (4) a major wave of humans entered India through the northeast; (5) the Tibeto-Burman tribals share considerable genetic commonalities with the Austro-Asiatic tribals, supporting the hypothesis that they may have shared a common habitat in southern China, but the two groups of tribals can be differentiated on the basis of Y-chromosomal haplotypes; (6) the Dravidian tribals were possibly widespread throughout India before the arrival of the Indo-European-speaking nomads, but retreated to southern India to avoid dominance; (7) formation of populations by fission that resulted in founder and drift effects have left their imprints on the genetic structures of contemporary populations; (8) the upper castes show closer genetic affinities with Central Asian populations, although those of southern India are more distant than those of northern India; (9) historical gene flow into India has contributed to a considerable obliteration of genetic histories of contemporary populations so that there is at present no clear congruence of genetic and geographical or sociocultural affinities.[Supplemental Material is available online at www.genome.org. The following individuals kindly provided reagents, samples, or unpublished information as indicated in the paper: C

Association of lipoprotein lipase gene polymorphisms with obesity and type 2 diabetes in an Asian Indian population

“…28 To address the issue of population stratification, a cross-validation using genomic controls was done. 29 A case-control study at six unlinked marker loci believed to be unrelated to the disease under study but known to have allelic diversity among different populations was carried out.…”

The Soliga, an isolated tribe from Southern India: genetic diversity and phylogenetic affinities

“…The high Gst could be the result of a combination of various source populations in the peopling of South Central Asia, particularly India. 5,84 Subsequent socio-cultural barriers most likely had a role in hindering genetic flow among population groups. In order to explore the impact of the Soliga people on South Central Asia's interpopulation diversity, the tribe was excluded from the South Central Asian group, which resulted in a Gst of 0.01043, a 29.2% decrease from the original Gst, which included the Soligas.…”

“…[1][2][3][4][5][6][7][8][9][10] Archeological and genetic data suggest that the country's extensive coastal area may have served as a route for human populations that migrated out of Africa B70 000 years ago and settled Southeast Asia and Australia. 1,7,9,[11][12][13][14][15][16][17][18][19][20] Anatomical similarities between some southern Indian tribes and the Australian aborigines were noticed more than a century ago by Huxley 21 who suggested an India-Australia connection.…”

“…Several genetic studies 5,6,[32][33][34] involving Indian populations have been published but they fail to reach a consensus on the origins of castes and tribes in India. A recent genome-wide study 35 employing more than 500 000 SNPs revealed that the modern Indian populations are a mixture of two source populations, the ancestral South Indians (ASI) and the ancestral North Indians (ANI).…”

“…A recent genome-wide study 35 employing more than 500 000 SNPs revealed that the modern Indian populations are a mixture of two source populations, the ancestral South Indians (ASI) and the ancestral North Indians (ANI). Given that tribal people represent the original inhabitants of India, 5,[36][37][38] they are ideal candidates for genetic studies that seek to understand modern human evolution and migrations, including the peopling of Australia. The Soliga people are a tribal community found in the Biligiri Rangana (BR) Hills in the district of Chamarajanagar, in the southern state of Karnataka, India.…”