ArticleAmerican journal of human genetics2011
Shared and unique components of human population structure and genome-wide signals of positive selection in South Asia.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 100 papers, 1 of them a synthesis that pooled it.
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Who cites it
100 citing papers in PubMed, 1 synthesis or guideline pooled it, 171 citations in OpenAlex.
- Human genetic diversity across South Asian populations: A systematic review and meta-analysis.Medicine · 2025Pooled it
- Analysis of whole exome sequencing in severe mental illness hints at selection of brain development and immune related genes.Scientific reports · 2021Trial
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- Fast pairwise coalescence enables gene-resolution scans for recent selection in diverse human populations.bioRxiv : the preprint server for biology · 2026Article
- Identifying Adaptive Footprints in the Presence of Demographic Uncertainty.Genome biology and evolution · 2026Article
- Forensic analysis of formalin-fixed non-paraffin-embedded tissues: a comparative study of STR and mtDNA profiling.Forensic science, medicine, and pathology · 2026Article
- Characterizing substructure via mixture modeling in large-scale genetic summary statistics.American journal of human genetics · 2025Article
- Multi-omics approaches for understanding gene-environment interactions in noncommunicable diseases: techniques, translation, and equity issues.Human genomics · 2025Review
- Characterizing substructure via mixture modeling in large-scale genetic summary statistics.bioRxiv : the preprint server for biology · 2024Article
- Genetic evidence for a single founding population of the Lakshadweep Islands.Molecular genetics and genomics : MGG · 2024Article
- South Asia: The Missing Diverse in Diversity.Behavior genetics · 2024Review
- Populations of Latvia and Lithuania in the context of some Indo-European and non-Indo-European speaking populations of Europe and India: insights from genetic structure analysis.Frontiers in genetics · 2024Article
- A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.Human genetics · 2022Article
- Ancient genomes from the Himalayas illuminate the genetic history of Tibetans and their Tibeto-Burman speaking neighbors.Nature communications · 2022Article
- Contrasting maternal and paternal genetic histories among five ethnic groups from Khyber Pakhtunkhwa, Pakistan.Scientific reports · 2022Article
- Article
- Estimation of polymorphisms in the drug-metabolizing enzyme, cytochromeBioengineered · 2021Article
- The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm.Molecular biology and evolution · 2021Article
40 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
15 authors at 9 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
South Asia harbors one of the highest levels genetic diversity in Eurasia, which could be interpreted as a result of its long-term large effective population size and of admixture during its complex demographic history. In contrast to Pakistani populations, populations of Indian origin have been underrepresented in previous genomic scans of positive selection and population structure. Here we report data for more than 600,000 SNP markers genotyped in 142 samples from 30 ethnic groups in India. Combining our results with other available genome-wide data, we show that Indian populations are characterized by two major ancestry components, one of which is spread at comparable frequency and haplotype diversity in populations of South and West Asia and the Caucasus. The second component is more restricted to South Asia and accounts for more than 50% of the ancestry in Indian populations. Haplotype diversity associated with these South Asian ancestry components is significantly higher than that of the components dominating the West Eurasian ancestry palette. Modeling of the observed haplotype diversities suggests that both Indian ancestry components are older than the purported Indo-Aryan invasion 3,500 YBP. Consistent with the results of pairwise genetic distances among world regions, Indians share more ancestry signals with West than with East Eurasians. However, compared to Pakistani populations, a higher proportion of their genes show regionally specific signals of high haplotype homozygosity. Among such candidates of positive selection in India are MSTN and DOK5, both of which have potential implications in lipid metabolism and the etiology of type 2 diabetes.
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