Human Population Genetics Research Papers (original) (raw)

Context: Inbreeding increases the level of homozygotes for autosomal recessive disorders and is the major objective in clinical studies. The prevalence of consanguinity and the degree of inbreeding vary from one population to another depending on ethnicity, religion, culture and geography. Global epidemiological studies have revealed that consanguineous unions have been significantly associated with increased susceptibility to various forms of inherited diseases. Objective: The study aimed to determine the role of consanguinity in human health and to highlight the associated risks for various diseases or disorders. Methods: PubMed and Google Scholar search engines were used to explore the published literature on consanguinity and its associated risks using the key words " consanguinity " , " prevalence " , " inbreeding depression " , " coefficient of inbreeding " , " child health " , " mortality " , " human health " , " homozygosity " and " complex diseases " in different combinations. The studies were screened for eligibility on the basis of their epidemiological relevance. Results: This comprehensive assessment highlights the deleterious consequences in populations with a higher prevalence of consanguinity among different countries worldwide. Conclusions: To avoid the inbreeding load there is the need to improve socioeconomic and educational status and to increase public awareness of reproductive health and anticipated deleterious effects. Premarital and pre-conception counselling of consanguineous populations should be an integral part of health policy to train people and make people aware of its harmful consequences. Furthermore, runs of homozygosity (ROH) and whole-exome sequencing (WES) are useful tools in exploring new genomic signatures for the cause of inbreeding depression.

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- Human Genetics, Public Health, Rare diseases, Clinical and Molecular Human Genetics

Humans first peopled the North American Arctic (northern Alaska, Canada, and Greenland) around 6000 years ago, leaving behind a complex archaeological record that consisted of different cultural units and distinct ways of life, including the Early Paleo-Eskimos (Pre-Dorset/Saqqaq), the Late Paleo-Eskimos (Early Dorset, Middle Dorset, and Late Dorset), and the Thule cultures.

- by Marta Mirazon Lahr
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- Archaeology, Prehistoric Archaeology, Human Evolution, Human Genetics

Indigenous peoples’ and genome scientists’ respective definitions and practices of making ‘indigeneity’ illustrate their competing notions of identity, origins, and futures. This article explores these genomic and indigenous ‘articulations’ of indigeneity, both their similarities and profound differences. Scientists who study ancient global human migrations and human genome diversity draw on an understanding of ‘indigeneity’ that appears to overlap with, but fundamentally contradicts, the use of this concept by the global indigenous movement. Genomic articulations privilege genetic ancestry as defining indigenous ‘populations’. In contrast, indigenous articulations of indigeneity emphasize political status and biological and cultural kinship constituted in dynamic, long-standing relations with each other and with living landscapes. To demonstrate how differences in definitions matter, I draw examples from several scientific and indigenous projects that entangle DNA knowledge with judgments about indigenous identities, and I note resulting policy implications. I first examine two key narratives of indigeneity and race that underlie the genomic articulation of indigeneity: ‘indigenous peoples are vanishing’ and ‘we are all related/all African’. I then explore two cases where genomic and indigenous articulations clash and overlap – the ‘Kennewick Man’ case and the use of DNA testing for tribal enrollment. Yet genomic articulations, with their greater truth-governing power, may inadvertently reconfigure indigeneity in ways that can undermine tribal and First Nations’ self-determination and the global indigenous anticolonial movement. Indeed, some indigenous peoples have recently adopted genomic articulations of identity, perhaps to their own detriment.

This course will involve the intensive study of the evolutionary implications of genetic variation within/between human populations in relationship to ecological and cultural variation. It will take a biocultural and evolutionary approach to the investigation of these patterns and will investigate questions relating to human biological variation on a population level. Evolutionary theory and genetic advances will be considered in relation to climatic adaptation, nutrition, energetics, disease, and stress adaptation. We will explore unique patterns in the human life cycle and in human growth and aging. We will further examine demographic patterns as they exist in the world today and as they might inform the future of human population biology.

- by Julia Gamble
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- Biological Anthropology, Population Biology, Physical Anthropology, Human Biology

Based on samples of the I1-Z140-03 subclade (“Rhine brаnсh”) an age assessment of the relevant phylogenetic tree has been performed, as well as an analysis of its geographical distribution, and determination of typical DYS-values. A... more

- by Aleksandr Shtrunov
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- Human Population Genetics

In order to obtain a better understanding of the genetic structure of the Azorean population, a specificity and spatial distribution analysis was performed, based on 2,454 different surnames present in the Azorean telephone directory (2002). We considered as specific surnames those with an absolute frequency ratio equal to or higher than 50%. The results revealed 51 specific surnames in the whole archipelago. The smallest island presents the only surname with 100% specificity (Pedras). In addition, São Miguel island, which contains 54% of the Azorean population, has the highest number of specific surnames (25 specific surnames). The spatial distribution analysis was used to detect genetic similarity between municipalities through the calculation of spatial autocorrelation (Moran's I coefficient). Of 240 surnames included in the analysis, 113 showed statistically significant patterns. Five different patterns were obtained, of which the most relevant was isolation by distance and depression (41.6%). However, 43.4% had no defined pattern. The overall correlogram shows a majority of positive values for distances lower than 49 km and between 269–309 km, indicating high similarity between closer municipalities and between distant municipalities whose populations show historic and sociocultural affinities. In conclusion, our data are in agreement with the historical background of the Azorean population. Am. J. Hum. Biol. 17:634–645, 2005. © 2005 Wiley-Liss, Inc.

- by Miro Tasso and +3
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- Evolutionary Biology, Geography, Demography, Nutrition and Dietetics

The rapid spread of the Proto-Slavic language in the second half of the first millennium CE was long explained by the migration of its speakers out of their small primary habitat in all directions. Starting from the 1980s, alternative theories have been proposed that present language shift as the main scenario of the Slavic spread, emphasizing the presumed role of Slavic as the lingua franca of the Avar Khaganate. Both the migration and the language shift scenarios in their extreme forms suffer from factual and chronological inaccuracy. On the basis of some key facts about human population genetics (the relatively recent common ancestry of the East European populations), palaeoclimatology (the Late Antique Little Ice Age from 536 to around 660 CE), and historical epidemiology (the Justinianic Plague), we propose a scenario that includes a primary rapid demographic spread of the Slavs followed by population mixing and language shifts to and from Slavic in different regions of Europe. There was no single reason for the Slavic spread that would apply to the whole of the area that became Slavic-speaking. The northern West Slavic area, the East Slavic area, and the Avar sphere and South-Eastern Europe exhibit different kinds of spread: mainly migration to a sparsely populated area in the northwest, migration and language shift in the east, and a more complicated scenario in the southeast. The remarkable homogeneity of Slavic up to the jer shift is not attributable to a lingua-franca function over a great area, as is often surmised. It was a founder effect: Proto-Slavic was originally a small Baltic dialect with little internal variation, and it took time for the individual Slavic languages to develop in different directions.

- by Maciamo Hay
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- History, European History, Genetics, Prehistoric Archaeology

There is no indication from the previous mtDNA studies that west Eurasian-specific subclades have evolved within India and played a role in the spread of languages and the origins of the caste system. To address these issues, we have screened 14,198 individuals (4208 from this study) and analyzed 112 mitogenomes (41 new sequences) to trace west Eurasian maternal ancestry. This has led to the identification of two autochthonous subhaplogroups-HV14a1 and U1a1a4, which are likely to have originated in the Dravidian-speaking populations approximately 10.5-17.9 thousand years ago (kya). The carriers of these maternal lineages might have settled in South India during the time of the spread of the Dravidian language. In addition to this, we have identified several subsets of autochthonous U7 lineages, including U7a1, U7a2b, U7a3, U7a6, U7a7, and U7c, which seem to have originated particularly in the higher-ranked caste populations in relatively recent times (2.6-8.0 kya with an average of ...

- by Suraksha Agrawal
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- Genetics, Human Genetics, Complementary and Alternative Medicine, Language

There is no indication from the previous mtDNA studies that west Eurasian-specific subclades have evolved within India and played a role in the spread of languages and the origins of the caste system. To address these issues, we have screened 14,198 individuals (4208 from this study) and analyzed 112 mitogenomes (41 new sequences) to trace west Eurasian maternal ancestry. This has led to the identification of two autochthonous subhaplogroups—HV14a1 and U1a1a4, which are likely to have originated in the Dravidian-speaking populations approximately 10.5–17.9 thousand years ago (kya). The carriers of these maternal lineages might have settled in South India during the time of the spread of the Dravidian language. In addition to this, we have identified several subsets of autochthonous U7 lineages, including U7a1, U7a2b, U7a3, U7a6, U7a7, and U7c, which seem to have
originated particularly in the higher-ranked caste populations
in relatively recent times (2.6–8.0 kya with an average
of 5.7 kya). These lineages have provided crucial clues
to the differentiation of the caste system that has occurred
during the recent past and possibly, this might have been
influenced by the Indo-Aryan migration. The remaining
west Eurasian lineages observed in the higher-ranked caste
groups, like the Brahmins, were found to cluster with populations who possibly arrived from west Asia during more
recent times.

- by Malliya gounder Palanichamy
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- Human Population Genetics

To improve available databases of forensic interest, all Y-STR haplotypes from Kazakh population were presented in this study. The reference database accumulated almost 3650 samples from academic and citizen science. Additionally, 27 Y-STR from Yfiler Plus System were first analyzed in 300 males from Kazakh (Qazaq) populations residing in Kazakhstan. The data is available in the YHDR under accession numbers YA004316 and YA004322. A total of 270 unique haplotypes were observed. Discrimination capacity was 90%. Obtained Y-STR haplotypes exhibited a high intra-population diversity. Analysis of pairwise genetic distances showed lowest RST values from Uighur and Mongolian populations.

- by Zhaxylyk M Sabitov
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- Forensics, Forensic Science, Population Genetics, Central Asian Studies

In this study 66 individuals from the Carpathian Basin were analysed, including the eight richest Avar graves ever discovered, overflowing with golden objects. The study included other individuals from the region prior to and during the Avar age “We address a question that has been a mystery for more than 1400 years: who were the Avar elites, mysterious founders of an empire that almost crushed Constantinople and for more than 200 years ruled in Carpathian Basin? The Avars did not leave written records about their history and these first genome-wide data provide robust clues about their origins. The historical contextualization of the archaeogenetic results allowed us to narrow the timing of the proposed Avar migration. They covered more than 5000 km in a few years from Mongolia to the Caucasus, and after ten more years settled in what is now Hungary.
This is the fastest long-distance migration in human history that we can reconstruct up to that point. Besides their clear affinity to Northeast Asia and their likely origin due to the fall of the Rouran Empire, we also see that the 7th-century Avar period elites show 20-30% of additional non-local ancestry, likely associated with the North Caucasus and the Western Asian Steppe, which could suggest further migration from the Steppe after their arrival in the 6th century. The East Asian ancestry is found in individuals from several sites in the core settlement area between the Danube and Tisza rivers in modern day central Hungary. However, outside the primary settlement region we find high variability in inter-individual levels of admixture. This suggests an immigrant Avars elite ruling a diverse population with the help of a heterogeneous local elite.

- by Szabolcs Czifra and +1
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- Genetics, Archaeology, Human Genetics, Migrations (Archaeology)

Heavy metals are natural component of earth and their over exploitation by man leads to anthropogenic introduction of these heavy metals in different ecosystems more or less in alarming level. In certain value they play vital role in metabolic process of living beings but when exceed from that limiting value they cause intoxication in living system. They have the tendency of bioaccumulation as well as biomagnifications within the food web in different ecosystems. Their persistence as a pollutant in air, water and soil with varying degree of concentrations to toxicity level ratio i.e. beyond regulatory limit is a matter of apprehension. In this article we have tried to describe the health issues in context of human beings related with exposure of certain heavy metals which are essential but have serious acute and chronic ill effect when consumed in different concentration frequently. Different Environmental protection agencies have their own guidelines regarding daily intake value of these heavy metals, and their intake/exposure beyond suggested regulatory limits have confirmed neurotoxic, hepatotoxic, nephrotoxic immunotoxic, teratogenic effects on human beings as well as other organisms.

- by Claudia Branco
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- Population Genetics, Portugal, Humans, Haplotypes

This study focuses on the genetic history of the Quechua-Lamistas, inhabitants of the Lamas Province in the San Martin Department, Peru, who speak their own distinct variety of the Quechua family of languages. It has been suggested that different pre-Columbian ethnic groups from the Peruvian Amazonia, like the Motilones or " shaven heads " , assimilated the Quechua language and then formed the current native population of Lamas. However, many Quechua-Lamistas claim to be direct descendants of the Chankas, a famous pre-Columbian indigenous group that escaped from Inca rule in the Andes. To investigate the Quechua-Lamistas and Chankas' ancestries, we compared uniparental genetic profiles (17 STRs of Q-M3 Y-chromosome and mtDNA complete control region haplotypes) among autochthonous Amazonian and Andean populations from Peru, Bolivia and Ecuador. The phylogeographic and population genetic analyses indicate a fairly heterogeneous ancestry for the Quechua-Lamistas, while they are closely related to their neighbours who speak Amazonian languages, presenting no direct relationships with populations from the region where the ancient Chankas lived. On the other hand, the genetic profiles of self-identified Chanka descendants living in Andahuaylas (located in the Apurimac Department, Peru, in the Central Andes) were closely related to those living in Huancavelica and the assumed Chanka Confederation area before the Inca expansion.

- by Jose Raul Sandoval Sandoval
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- Human Population Genetics

Mit der Jenaer Erklärung meldeten sich im September 2019 erstmals Vertreter der Deutschen Zoologischen Gesellschaft (DZG) zur Frage der Realität von Menschenrassen zu Wort. Vorangegangen waren entsprechende Stellungnahmen der Gesellschaft der Humangenetiker und der Anthropologen. Die drei Gesellschaften plädierten einhellig, wenn auch mit unterschiedlichen Akzenten, für die Abschaffung des Konzepts der Menschenrassen. Die Stellungnahmen sind vor dem Hintergrund der Geschichte der drei Disziplinen besonders wichtig. Von zoologischer Seite wurde jüngst der Jenaer Erklärung jedoch widersprochen. Aktuelle Lehrbücher halten ebenfalls an der Einteilung in Menschenrassen fest. Dies ist Anlass für den vorliegenden Beitrag, der die Frage nach der Existenz von Menschenrassen präzisiert. Sie lautet: Ist die Unterteilung von Arten in „Rassen“ oder Unterarten (Subspezies) im Fall der Art Homo sapiens geeignet, deren genetische Vielfalt adäquat zu erfassen? Dazu werden einschlägige Argumente und Aussagen einiger Zoologen zur Unterteilung von Arten in „Rassen“ analysiert, insbesondere die Annahme, dass es gleichermaßen bei Tierarten und beim Menschen „Rassen“ gebe. Die Diskussion um die Jenaer Erklärung zeigt, dass deren Aussagen nicht alle Zoologen teilen, vielleicht nicht einmal mehrheitlich. Wegen des gesellschaftlichen Interesses an zuverlässiger biologischer Information sollen die fachlichen Ungenauigkeiten, Fehler sowie unangemessenen Folgerungen in zoologischen Werken aufgedeckt und korrigiert werden

- by Ulrich Kattmann
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- Geography, Biological Anthropology, Biology, Human Population Genetics

Surrounded by speakers of Indo-European, Dravidian and Tibeto-Burman languages, around 11 million Munda (a branch of Austroasiatic language family) speakers live in the densely populated and genetically diverse South Asia. Their genetic makeup holds components characteristic of South Asians as well as Southeast Asians. The admixture time between these components has been previously estimated on the basis of archaeology, linguistics and uniparental markers. Using genome-wide genotype data of 102 Munda speakers and contextual data from South and Southeast Asia, we retrieved admixture dates between 2000-3800 years ago for different populations of Munda. The best modern proxies for the source populations for the admixture with proportions 0.29/0.71 are Lao people from Laos and Dravidian speakers from Kerala in India. The South Asian population(s), with whom the incoming Southeast Asians intermixed, had a smaller proportion of West Eurasian genetic component than contemporary proxies. Somewhat surprisingly Malaysian Peninsular tribes rather than the geographically closer Austroasiatic languages speakers like Vietnamese and Cambodians show highest sharing of IBD segments with the Munda. In addition, we affirmed that the grouping of the Munda speakers into North and South Munda based on linguistics is in concordance with genome-wide data. Genetically diverse 1-3 South Asia is home to more than a billion people who belong to thousands of distinct socio-culturally or ethnically defined population groups. These groups speak languages of four major language families: Indo-European, Dravidian, Austroasiatic and Trans-Himalayan. Studies based on genome-wide genotype data have shown that the majority of present day populations of the Indian subcontinent derive their genetic ancestry to a large extent from two ancestral populations-ancestral northern and southern Indians-of which the former is genetically close to West Eurasian populations 4-6. In addition to these two components, the Munda speakers of the Austroasiatic family share a minor proportion of their genetic ancestry with Southeast Asian populations 7. Austroasiatic languages are spoken by more than 100 million people in Mainland Southeast Asia (MSEA) and >10 million Austroasiatic speakers 8 of Munda languages live in East and Central parts of India where they are surrounded by Indo-European, Dravidian and Trans-Himalayan languages speakers.

- by Ajai Pathak and +2
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- Southeast Asian Studies, Indian studies, Population Genetics, South Asia
- by Sacha C Jones
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- Human Evolution, Palaeoenvironment, Palaeolithic Archaeology, Paleodemography
- by Ricardo Fujita
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- Genetics, Peru, Low Frequency, High Frequency
- by Guido Barbujani
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- Evolutionary Biology, Genetics, Human Evolution, Population Genetics

Several Pre-Hispanic, trans-Pacific contact hypotheses between Polynesians and indigenous South Americans have now been discussed in archeological and linguistic circles for many decades. Recent population genetic research published in Nature in 2020 strongly suggested a Pre-Hispanic Zenú-Marquesan link. This paper therefore examines the hypotheses that the Zenú population of historical northwestern Colombia actually did speak a Choco language, and that this population participated in one, single Pre-Hispanic, trans-Pacific naval contact leading to migration to and admixing with the Polynesian population of the Marquesas Islands in the 13th century. This paper therewith provides promising linguistic evidence in support of this tentative connection by detailing suggested Chocoan loanwords into the North and South Marquesan languages.

- by Candela Hernandez
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- Forensic Science, Population Genetics, Spain, Genetic Diversity
- by LINDA ONGARO
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- Genetics, Human Evolution, Human Genetics, Indian studies

Molecular genetic data contain information on the history of populations. Evidence of prehistoric demographic expansions has been detected in the mitochondrial diversity of most human populations and in a Y-chromosome STR analysis, but not in a previous study of 11 Y-chromosome SNPs in Europeans. In this paper, we show that mismatch distributions and tests of mutation/drift equilibrium based on up to 166 Y-chromosome SNPs, in 46 samples from all continents, also fail to support an increase of the male effective population size. Computer simulations show that the low nuclear versus mitochondrial mutation rates cannot explain these results. However, ascertainment bias, i.e., when only highly variable SNP sites are typed, may be concealing any Y SNPs evidence for a recent, but not an ancient, increase in male effective population sizes. The results of our SNP analyses can be reconciled with the expansion of male effective population sizes inferred from STR loci, and with mitochondrial ...

- by Isabelle Dupanloup and +2
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- Evolutionary Biology, Genetics, Biological Anthropology, Genetic Drift
- by Rita Cabral and +2
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- Genetics, Genetic Drift, Gene Flow, Population Genetics

Isolation-by-distance models are part of the institutional creed of antiracialism used to critique claims of biological race concepts (BRCs). Proponents of antiracialism appeal to isolation-by-distance models to describe patterns of human genetic di ferences among and between groups as a function of distance. Isolation by distance has been referred to as the pattern that human genetic variation ts, distributing the di ferences we see as race throughout geographic space as a series of Gaussian gradients. Contemporary scienti c critiques of BRCs fuse social constructionist race concepts with a description of the distribution of proportions of human genetic variation in geographic space as a function of distance. These two points are often followed by statements noting that there is only one human race. How these two concepts connect to each other, and whether or not they connect at all, is unclear in both academic and nonacademic spaces. Consequently, scientists and the public lack an understanding of human population structure and its relationships to varying systems of human interactions. This article reviews isolation-by-distance models in population genetics and the use of these models in the modern problem of human di ference. The article presents a historical and conceptual review of isolation-by-distance models and contemporary scienti c critiques of BRCs, followed by examples of the use of isolation-by-distance models in studies of human genetic variation. To address the shortcomings in the scienti c critique of race, the author proposes combining Du Boisian demography with Darwinian evolutionary biology. From a Du Boisian demographic perspective, race is a product of racism, or race/ism, and is a heredity and inheritance system based on rules of partus sequitur ventrem and hypodescent. Race marks individuals and groups them to reproduce unequal relationships into which Europeans co-opted them. This synthesis propounds a new racial formation theory to understand the more general consequences of racism on genes and health outcomes. The greatest di culty we face is rst of all to excavate our actual history.-James Baldwin Contrary to what you may have heard or learned, the past is not done and it is not over, it's still in process, which is another way of saying that when it's critiqued, analyzed, it yields new information about itself.-Toni Morrison

Similarity between two individuals in the combination of genetic markers along their
chromosomes indicates shared ancestry and can be used to identify historical connections between
different population groups due to admixture. We use a genome-wide, haplotype-based, analysis
to characterise the structure of genetic diversity and gene-flow in a collection of 48 sub-Saharan
African groups. We show that coastal populations experienced an influx of Eurasian haplotypes
over the last 7000 years, and that Eastern and Southern Niger-Congo speaking groups share
ancestry with Central West Africans as a result of recent population expansions. In fact, most sub-
Saharan populations share ancestry with groups from outside of their current geographic region as
a result of gene-flow within the last 4000 years. Our in-depth analysis provides insight into
haplotype sharing across different ethno-linguistic groups and the recent movement of alleles into
new environments, both of which are relevant to studies of genetic epidemiology.

- by Subulade Ademola (nee Olaniyan)
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- Genetics, Human Population Genetics
- by Guido Barbujani
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- Bioinformatics, Evolutionary Biology, Genetics, Human Biology

Seventeen Y-chromosomal short tandem repeats (STRs) were analyzed in 347 healthy, unrelated, autochthonous males from the Andalusian provinces of Huelva (N=167) and Granada (N=180). AmpFlSTR Y-filer PCR Amplification kit (Applied Biosystems) was used to type the Y-STR markers. A total of 156 and 166 different haplotypes for the 17 Y-STR set were detected in Huelva, and Granada, respectively. The same haplotype diversity was found for both samples (0.998±0.001), and the overall discrimination capacity was 0.904. The most common minimal haplotype (DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393) in both subpopulations was 14-13-16-24-11-13-13, which is also the most frequent haplotype among Atlantic European populations. Comparison analysis using pairwise R(ST) values and Analysis of Molecular Variance (AMOVA) revealed a significant genetic distance between our Andalusian samples and other ones from the northern Iberian fringe (including Basque and Pyrenean populations). However, results from the multi-dimensional scaling analysis (MDS) yielded a well-defined group of Iberian populations separated from the other Mediterranean clusters observed.

- by Suraksha Agrawal
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- Genetics, Human Genetics, Complementary and Alternative Medicine, Language
- by Gheorghe Stefanescu
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- Human Population Genetics
- by Guido Barbujani
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- Evolutionary Biology, Biological Anthropology, Molecular Biology, Human Rights
- by Stephen Oppenheimer
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- Genomics, Gene Flow, Africa, Australia
- by Keith Cheng
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- Genetics, Human Genetics, Molecular Biology, Genomics
- by Maude Phipps
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- Health Sciences, Human Evolution, Southeast Asia, Indigenous Peoples

The increasingly obvious medical relevance of human genetic variation
is fueling the development of a rich interface between medical genetics and the study
of human genetic history. A key feature of this interface is a step increase in the size
and diversity of genetic data sets, permitting a range of new questions to be addressed
concerning our evolutionary history. Similarly, methodologies first developed to study
genetic history are being tailored to address medical challenges, including mapping
genes that influence diseases and variable drug reactions. In this paper we do not at-
tempt a comprehensive review of human genetic history. Rather we briefly outline some
of the complications and challenges in the study of human genetic history, drawing
particular attention to new opportunities created by the explosive growth in genetic
information and technologies. First we discuss the complexity of human migration
and demographic history, taking both a genetic and archaeological perspective. Then
we show how these apparently academic issues are becoming increasingly important
in medical genetics, focusing on association studies, the common disease/common
variant hypothesis, the evaluation of variable drug response, and inferences about gene
function from patterns of genetic variation. Finally we describe some of the inferential
approaches available for interpreting human genetic variation, focusing both on current
limitations and future developments.

- by Lounes CHIKHI
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- Archaeology, Genomics, Conservation Genetics, Population Genetics
- by Gevorg Ghazaryan
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- Genetics, Human Genetics, Human Population Genetics, Geneology
- by Felipe Martinez
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- Evolutionary Biology, Genetics, Geography, Anthropology
- by Ajai Pathak
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- Geography, Southeast Asian Studies, Indian studies, Population Genetics
- by Antonella Casoli
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- Ancient History, Biological Anthropology, Biology, Ancient DNA Research

The Indus Valley has been the backdrop for several historic and prehistoric population movements between South Asia and West Eurasia. However, the genetic structure of present-day populations from Northwest India is poorly characterized. Here we report new genome-wide genotype data for 45 modern individuals from four Northwest Indian populations, including the Ror, whose long-term occupation of the region can be traced back to the early Vedic scriptures. Our results suggest that although the genetic architecture of most Northwest Indian populations fits well on the broader North-South Indian genetic cline, culturally distinct groups such as the Ror stand out by being genetically more akin to populations living west of India; such populations include prehistorical and early historical ancient individuals from the Swat Valley near the Indus Valley. We argue that this affinity is more likely a result of genetic continuity since the Bronze Age migrations from the Steppe Belt than a result of recent admixture. The observed patterns of genetic relationships both with modern and ancient West Eurasians suggest that the Ror can be used as a proxy for a population descended from the Ancestral North Indian (ANI) population. Collectively, our results show that the Indus Valley populations are characterized by considerable genetic heterogeneity that has persisted over thousands of years. https://www.cell.com/ajhg/fulltext/S0002-9297(18)30398-7

- by Ajai Pathak and +1
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- Genetics, Human Evolution, Human Genetics, Indian studies