Abstract
BackgroundIndian populations endowed with unparalleled genetic complexity have received a great deal of attention from scientists world over. However, the fundamental question over their ancestry, whether they are all genetically similar or do exhibit differences attributable to ethnicity, language, geography or socio-cultural affiliation is still unresolved. In order to decipher their underlying genetic structure, we undertook a study on 3522 individuals belonging to 54 endogamous Indian populations representing all major ethnic, linguistic and geographic groups and assessed the genetic variation using autosomal microsatellite markers.ResultsThe distribution of the most frequent allele was uniform across populations, revealing an underlying genetic similarity. Patterns of allele distribution suggestive of ethnic or geographic propinquity were discernible only in a few of the populations and was not applicable to the entire dataset while a number of the populations exhibited distinct identities evident from the occurrence of unique alleles in them. Genetic substructuring was detected among populations originating from northeastern and southern India reflective of their migrational histories and genetic isolation respectively.ConclusionOur analyses based on autosomal microsatellite markers detected no evidence of general clustering of population groups based on ethnic, linguistic, geographic or socio-cultural affiliations. The existence of substructuring in populations from northeastern and southern India has notable implications for population genetic studies and forensic databases where broad grouping of populations based on such affiliations are frequently employed.
Highlights
Indian populations endowed with unparalleled genetic complexity have received a great deal of attention from scientists world over
Earlier genetic studies to understand the prevailing diversity among extant Indian populations analyzing populations that were predefined either based on ethnicity, language, culture or geography have interpreted existence of different levels of genetic relationships among population groups [3,4,5,6] that broadly attest the theories of migration and assimilation of different populations
Recent molecular analyses have asserted genetic similarity across populations spread over diverse geographic regions of the country, revealing a gradation of genetic lineages underscoring the genetic correlation amongst populations [7,8]
Summary
Indian populations endowed with unparalleled genetic complexity have received a great deal of attention from scientists world over. Human diversity in India is defined by 4693 different, documented population groups that include 2205 major communities, 589 segments and 1900 territorial units spread across the country [1]. The populations are grouped into four major ethnic categories, which include the Australoid, Indo-Caucasoid, IndoMongoloid and Negrito populations and linguistically broadly classified as Indo-European, Dravidian, AustroAsiatic and Sino-Tibetan speakers. Earlier genetic studies to understand the prevailing diversity among extant Indian populations analyzing populations that were predefined either based on ethnicity, language, culture or geography have interpreted existence of different levels of genetic relationships among population groups [3,4,5,6] that broadly attest the theories of migration and assimilation of different populations. Recent molecular analyses have asserted genetic similarity across populations spread over diverse geographic regions of the country, revealing a gradation of genetic lineages underscoring the genetic correlation amongst populations [7,8]
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