scholarly journals The Genomic Formation of South and Central Asia

2018 ◽  
Author(s):  
Vagheesh M. Narasimhan ◽  
Nick Patterson ◽  
Priya Moorjani ◽  
Iosif Lazaridis ◽  
Mark Lipson ◽  
...  
Keyword(s):  
South Asia ◽  
Bronze Age ◽  
South Asian ◽  
Ancient Dna ◽  
South Asians ◽  
Asian Populations ◽  
European Languages ◽  
Genome Wide ◽  
Steppe Communities ◽  
Genome Wide Data

AbstractThe genetic formation of Central and South Asian populations has been unclear because of an absence of ancient DNA. To address this gap, we generated genome-wide data from 362 ancient individuals, including the first from eastern Iran, Turan (Uzbekistan, Turkmenistan, and Tajikistan), Bronze Age Kazakhstan, and South Asia. Our data reveal a complex set of genetic sources that ultimately combined to form the ancestry of South Asians today. We document a southward spread of genetic ancestry from the Eurasian Steppe, correlating with the archaeologically known expansion of pastoralist sites from the Steppe to Turan in the Middle Bronze Age (2300-1500 BCE). These Steppe communities mixed genetically with peoples of the Bactria Margiana Archaeological Complex (BMAC) whom they encountered in Turan (primarily descendants of earlier agriculturalists of Iran), but there is no evidence that the main BMAC population contributed genetically to later South Asians. Instead, Steppe communities integrated farther south throughout the 2nd millennium BCE, and we show that they mixed with a more southern population that we document at multiple sites as outlier individuals exhibiting a distinctive mixture of ancestry related to Iranian agriculturalists and South Asian hunter-gathers. We call this group Indus Periphery because they were found at sites in cultural contact with the Indus Valley Civilization (IVC) and along its northern fringe, and also because they were genetically similar to post-IVC groups in the Swat Valley of Pakistan. By co-analyzing ancient DNA and genomic data from diverse present-day South Asians, we show that Indus Periphery-related people are the single most important source of ancestry in South Asia—consistent with the idea that the Indus Periphery individuals are providing us with the first direct look at the ancestry of peoples of the IVC—and we develop a model for the formation of present-day South Asians in terms of the temporally and geographically proximate sources of Indus Periphery-related, Steppe, and local South Asian hunter-gatherer-related ancestry. Our results show how ancestry from the Steppe genetically linked Europe and South Asia in the Bronze Age, and identifies the populations that almost certainly were responsible for spreading Indo-European languages across much of Eurasia.One Sentence SummaryGenome wide ancient DNA from 357 individuals from Central and South Asia sheds new light on the spread of Indo-European languages and parallels between the genetic history of two sub-continents, Europe and South Asia.

scholarly journals The promise of disease gene discovery in South Asia

2016 ◽  
Author(s):  
Nathan Nakatsuka ◽  
Priya Moorjani ◽  
Niraj Rai ◽  
Biswanath Sarkar ◽  
Arti Tandon ◽  
...  
Keyword(s):  
South Asia ◽  
Disease Burden ◽  
South Asians ◽  
Large Population ◽  
Disease Genes ◽  
Ashkenazi Jews ◽  
Disease Gene Discovery ◽  
Genome Wide ◽  
Genome Wide Data ◽  
Founder Events

The more than 1.5 billion people who live in South Asia are correctly viewed not as a single large population, but as many small endogamous groups. We assembled genome-wide data from over 2,800 individuals from over 260 distinct South Asian groups. We identify 81 unique groups, of which 14 have estimated census sizes of more than a million, that descend from founder events more extreme than those in Ashkenazi Jews and Finns, both of which have high rates of recessive disease due to founder events. We identify multiple examples of recessive diseases in South Asia that are the result of such founder events. This study highlights an under-appreciated opportunity for reducing disease burden among South Asians through the discovery of and testing for recessive disease genes.

scholarly journals Ancient genomic time transect from the Central Asian Steppe unravels the history of the Scythians

2021 ◽  
Vol 7 (13) ◽  
pp. eabe4414
Author(s):  
Guido Alberto Gnecchi-Ruscone ◽  
Elmira Khussainova ◽  
Nurzhibek Kahbatkyzy ◽  
Lyazzat Musralina ◽  
Maria A. Spyrou ◽  
...  
Keyword(s):  
Bronze Age ◽  
Iron Age ◽  
Gene Pools ◽  
Social Rules ◽  
Eurasian Steppe ◽  
Central Asian ◽  
Genome Wide ◽  
Genome Wide Data ◽  
History Of ◽  
First Millennium

The Scythians were a multitude of horse-warrior nomad cultures dwelling in the Eurasian steppe during the first millennium BCE. Because of the lack of first-hand written records, little is known about the origins and relations among the different cultures. To address these questions, we produced genome-wide data for 111 ancient individuals retrieved from 39 archaeological sites from the first millennia BCE and CE across the Central Asian Steppe. We uncovered major admixture events in the Late Bronze Age forming the genetic substratum for two main Iron Age gene-pools emerging around the Altai and the Urals respectively. Their demise was mirrored by new genetic turnovers, linked to the spread of the eastern nomad empires in the first centuries CE. Compared to the high genetic heterogeneity of the past, the homogenization of the present-day Kazakhs gene pool is notable, likely a result of 400 years of strict exogamous social rules.

scholarly journals Analysis of whole-genome re-sequencing data of ducks reveals a diverse demographic history and extensive gene flow between Southeast/South Asian and Chinese populations

2021 ◽  
Vol 53 (1) ◽  
Author(s):  
Fan Jiang ◽  
Ruiyi Lin ◽  
Changyi Xiao ◽  
Tanghui Xie ◽  
Yaoxin Jiang ◽  
...  
Keyword(s):  
Gene Flow ◽  
South Asia ◽  
South Asian ◽  
Demographic History ◽  
Nervous System Development ◽  
Chromosome 1 ◽  
Whole Genome ◽  
Chinese Populations ◽  
Asian Populations ◽  
History Of

Abstract Background The most prolific duck genetic resource in the world is located in Southeast/South Asia but little is known about the domestication and complex histories of these duck populations. Results Based on whole-genome resequencing data of 78 ducks (Anas platyrhynchos) and 31 published whole-genome duck sequences, we detected three geographic distinct genetic groups, including local Chinese, wild, and local Southeast/South Asian populations. We inferred the demographic history of these duck populations with different geographical distributions and found that the Chinese and Southeast/South Asian ducks shared similar demographic features. The Chinese domestic ducks experienced the strongest population bottleneck caused by domestication and the last glacial maximum (LGM) period, whereas the Chinese wild ducks experienced a relatively weak bottleneck caused by domestication only. Furthermore, the bottleneck was more severe in the local Southeast/South Asian populations than in the local Chinese populations, which resulted in a smaller effective population size for the former (7100–11,900). We show that extensive gene flow has occurred between the Southeast/South Asian and Chinese populations, and between the Southeast Asian and South Asian populations. Prolonged gene flow was detected between the Guangxi population from China and its neighboring Southeast/South Asian populations. In addition, based on multiple statistical approaches, we identified a genomic region that included three genes (PNPLA8, THAP5, and DNAJB9) on duck chromosome 1 with a high probability of gene flow between the Guangxi and Southeast/South Asian populations. Finally, we detected strong signatures of selection in genes that are involved in signaling pathways of the nervous system development (e.g., ADCYAP1R1 and PDC) and in genes that are associated with morphological traits such as cell growth (e.g., IGF1R). Conclusions Our findings provide valuable information for a better understanding of the domestication and demographic history of the duck, and of the gene flow between local duck populations from Southeast/South Asia and China.

Diabetes in South Asians

2011 ◽  
pp. 1799-1803
Author(s):  
A. Ramachandran ◽  
C. Snehalatha
Keyword(s):  
South Asian ◽  
Indian Subcontinent ◽  
South Asians ◽  
Stress Factors ◽  
Rapid Urbanization ◽  
Asian Populations ◽  
Adults And Children ◽  
Diabetic Population

Developing countries, mainly in the Indian subcontinent and China, contribute nearly 80% to the rising global diabetic population. Conservative estimates, based on population growth, ageing of population, and rate of urbanization in Asia, show that India and China will remain the top two countries with the highest number of people with diabetes by 2025: 71 and 38 million, respectively. Two other South Asian countries, Pakistan and Bangladesh, also are in the top ten list. The South Asian populations of Bangladesh, Bhutan, India, the Maldives, Nepal, Pakistan, and Sri Lanka are racially heterogeneous, but all have high risk for diabetes and cardiovascular diseases. Type 1 diabetes is relatively less common, and nearly 95% of all diabetic cases in these regions are type 2 diabetes. The steady rise in the prevalence of diabetes seen in last three decades coincides with rapid urbanization and industrialization, and associated sociological and political changes, occurring in these countries (1). Among the populations, physical activity has reduced significantly, intake of energy-dense food has increased, and mental and physical stress factors associated with urban living have also increased. A tilt in the energy balance towards conservation and fat deposition has contributed to the alarming increase in the rate of obesity, both in adults and children.

scholarly journals Genome‐wide SNP typing of ancient DNA: Determination of hair and eye color of Bronze Age humans from their skeletal remains

2020 ◽  
Vol 172 (1) ◽  
pp. 99-109 ◽  
Author(s):  
Nicole Schmidt ◽  
Katharina Schücker ◽  
Ina Krause ◽  
Thilo Dörk ◽  
Michael Klintschar ◽  
...  
Keyword(s):  
Bronze Age ◽  
Ancient Dna ◽  
Skeletal Remains ◽  
Eye Color ◽  
Snp Typing ◽  
Genome Wide

scholarly journals Adipocytokine Associations with Insulin Resistance in British South Asians

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
D. R. Webb ◽  
K. Khunti ◽  
S. Chatterjee ◽  
J. Jarvis ◽  
M. J. Davies
Keyword(s):  
Metabolic Disease ◽  
Insulin Resistance ◽  
Type 2 Diabetes ◽  
South Asian ◽  
South Asians ◽  
Risk Groups ◽  
Serum Samples ◽  
Asian Populations ◽  
Glucose Dysregulation

Aims. Adipocytokines are implicated in the pathogenesis of type 2 diabetes and may represent identifiable precursors of metabolic disease within high-risk groups. We investigated adiponectin, leptin, and TNF-αand assessed the contribution of these molecules to insulin resistance in south Asians.Hypothesis. South Asians have adverse adipocytokine profiles which associate with an HOMA-derived insulin resistance phenotype.Methods. We measured adipocytokine concentrations in south Asians with newly diagnosed impaired glucose tolerance or Type 2 Diabetes Mellitus in a case-control study. 158 (48.5% males) volunteers aged 25–75 years with risk factors for diabetes but no known vascular or metabolic disease provided serum samples for ELISA and bioplex assays.Results. Total adiponectin concentration progressively decreased across the glucose spectrum in both sexes. A reciprocal trend in leptin concentration was observed only in south Asian men. Adiponectin but not leptin independently associated with HOMA-derived insulin resistance after logistic multivariate regression.Conclusion. Diasporic south Asian populations have an adverse adipocytokine profile which deteriorates further with glucose dysregulation. Insulin resistance is inversely associated with adiponectin independent of BMI and waist circumference in south Asians, implying that adipocytokine interplay contributes to the pathogenesis of metabolic disease in this group.

scholarly journals A dynamic 6,000-year genetic history of Eurasia’s Eastern Steppe

2020 ◽  
Author(s):  
Choongwon Jeong ◽  
Ke Wang ◽  
Shevan Wilkin ◽  
William Timothy Treal Taylor ◽  
Bryan K. Miller ◽  
...  
Keyword(s):  
Bronze Age ◽  
Population History ◽  
Complex Interplay ◽  
Cultural Changes ◽  
Genetic History ◽  
Nomadic Pastoralists ◽  
Eurasian Steppe ◽  
Genome Wide ◽  
Genome Wide Data ◽  
History Of

SummaryThe Eastern Eurasian Steppe was home to historic empires of nomadic pastoralists, including the Xiongnu and the Mongols. However, little is known about the region’s population history. Here we reveal its dynamic genetic history by analyzing new genome-wide data for 214 ancient individuals spanning 6,000 years. We identify a pastoralist expansion into Mongolia ca. 3000 BCE, and by the Late Bronze Age, Mongolian populations were biogeographically structured into three distinct groups, all practicing dairy pastoralism regardless of ancestry. The Xiongnu emerged from the mixing of these populations and those from surrounding regions. By comparison, the Mongols exhibit much higher Eastern Eurasian ancestry, resembling present-day Mongolic-speaking populations. Our results illuminate the complex interplay between genetic, sociopolitical, and cultural changes on the Eastern Steppe.

scholarly journals Towards a new history and geography of human genes informed by ancient DNA

2014 ◽  
Author(s):  
Joseph Pickrell ◽  
David Reich
Keyword(s):  
Natural Selection ◽  
Ancient Dna ◽  
Population Replacement ◽  
Local Conditions ◽  
Geographic Locations ◽  
Technological Advances ◽  
Genome Wide ◽  
Human Genes ◽  
Genome Wide Data ◽  
History Of

Genetic information contains a record of the history of our species, and technological advances have transformed our ability to access this record. Many studies have used genome-wide data from populations today to learn about the peopling of the globe and subsequent adaptation to local conditions. Implicit in this research is the assumption that the geographic locations of people today are informative about the geographic locations of their ancestors in the distant past. However, it is now clear that long-range migration, admixture and population replacement have been the rule rather than the exception in human history. In light of this, we argue that it is time to critically re-evaluate current views of the peopling of the globe and the importance of natural selection in determining the geographic distribution of phenotypes. We specifically highlight the transformative potential of ancient DNA. By accessing the genetic make-up of populations living at archaeologically-known times and places, ancient DNA makes it possible to directly track migrations and responses to natural selection.

Comparison of Age at Diagnosis, Cytogenetic Risk, and Overall Survival Between Acute Myeloid Leukemia Patients of White and South Asian Race/Ethnicity in the United States

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 3753-3753
Author(s):  
Tao Zou ◽  
Ashley M. Perry ◽  
Andrew M. Brunner ◽  
Chepsy C Philip ◽  
Donna S. Neuberg ◽  
...  
Keyword(s):  
Old Age ◽  
South Asian ◽  
South Asians ◽  
Age Distribution ◽  
Age At Diagnosis ◽  
Age Group ◽  
Asian Populations ◽  
Younger Age ◽  
The Us ◽  
Race Ethnicity

Abstract Introduction: Acute myeloid leukemia (AML) is more frequent among older patients in the United States (US), with a median age at diagnosis of 67 years old. A recent case series of AML patients from India reported a median age at diagnosis of 40 years old, suggesting that the pathogenesis of AML may differ between these populations (British Journal of Haematology 2015;170:110). In this study, we examined whether differences exist in the age at diagnosis, cytogenetic risk, and overall survival (OS) of White and South Asian patients diagnosed with AML in the US. Methods: We used the 1973-2012 Surveillance, Epidemiology, and End Results Program (SEER) database to identify adults, age 20 years or older, diagnosed with AML between 2000 and 2012. We included patients with documented race/ethnicity and known age at diagnosis. We compared age at diagnosis, cytogenetic risk, and OS according to White or South Asian race/ethnicity, based on patient surname as defined by SEER. We stratified age at diagnosis into age groups, defined as 20-24, 25-34, 35-44, 45-54, 55-64, and >65 years old, to compare the White and South Asian populations. Using the 2012 US Census population age distributions, we directly standardized the distribution of age at diagnosis of AML in SEER, weighted according to the age distribution of the total White and South Asian populations in the US. We categorized SEER-reported cytogenetic profiles as having favorable or adverse prognosis based on accepted definitions. We compared cytogenetic risk and OS between White and South Asian populations according to stratified age group at diagnosis. Differences in age at diagnosis were calculated using the Mann-Whitney test. OS was compared by the Log-rank test and estimated by the method of Kaplan and Meier. P-values <0.05 were considered significant. Results: 39,192 patients, age 20 years old and above, were diagnosed with AML from 2000 to 2012 and had documented race/ethnicity at diagnosis in the SEER database. South Asian patients in the US were diagnosed with AML at a significantly younger age compared to White patients (Figure 1A, median age at diagnosis of 57 vs. 69.5 years old for South Asians (n=265) vs. Whites (n=33,419), p=<0.0001). Along with younger age at diagnosis, South Asians had a greater reported frequency of favorable cytogenetic risk (17.7% vs. 9.7% favorable cytogenetic risk for South Asians vs. Whites). Analysis of the demographics of the US population also showed that the South Asian population was significantly younger than the White population (median age of 40 vs. 50 years old for South Asians (n=2,447,009) vs. Whites (n=172,366,410), p=<0.0001). Direct standardization of the age at AML diagnosis with the age distributions of White and South Asian census populations in the US abrogated the differences in age at diagnosis between these groups (Figure 1B, p=0.8718). Standardization by age distribution also narrowed the difference in favorable cytogenetic risk between Whites and South Asians (17.9 vs. 19.1 cases per one million people, respectively). OS was not different between Whites and South Asians in the 20-49 year old age group (median OS: 46 vs. 60 months for Whites (n=5,272) vs. South Asians (n=96), p=0.4986), the 50-64 year old age group (median OS: 13.5 vs. 16 months for Whites (n=6,066) vs. South Asians (n=62), p=0.5088), or the >65 year old age group (median OS: 3 vs. 4.5 months for Whites (n=13,692) vs. South Asians (n=66), p=0.8491). Conclusions: In the US, AML patients of South Asian descent are diagnosed at a younger age and have more favorable cytogenetic risk profiles as compared to their White counterparts, which is of epidemiologic importance. Nevertheless, these findings appear to reflect the younger age distribution of the entire South Asian population as compared to the total White population in the US, rather than a difference in the inherent biology or pathogenesis of AML. These data highlight the importance of directly standardizing age distributions in population outcomes research. Disclosures Fathi: Agios Pharmaceuticals: Other: Advisory Board participation; Merck: Other: Advisory Board participation; Seattle Genetics: Other: Advisory Board participation, Research Funding.

scholarly journals The formation of human populations in South and Central Asia

Science ◽  
2019 ◽  
Vol 365 (6457) ◽  
pp. eaat7487 ◽  
Author(s):  
Vagheesh M. Narasimhan ◽  
Nick Patterson ◽  
Priya Moorjani ◽  
Nadin Rohland ◽  
Rebecca Bernardos ◽  
...  
Keyword(s):  
South Asia ◽  
Central Asia ◽  
Bronze Age ◽  
South Asians ◽  
Primary Source ◽  
Ancestral Population ◽  
Human Populations ◽  
Hunter Gatherers ◽  
Distinctive Features ◽  
Slavic Languages

By sequencing 523 ancient humans, we show that the primary source of ancestry in modern South Asians is a prehistoric genetic gradient between people related to early hunter-gatherers of Iran and Southeast Asia. After the Indus Valley Civilization’s decline, its people mixed with individuals in the southeast to form one of the two main ancestral populations of South Asia, whose direct descendants live in southern India. Simultaneously, they mixed with descendants of Steppe pastoralists who, starting around 4000 years ago, spread via Central Asia to form the other main ancestral population. The Steppe ancestry in South Asia has the same profile as that in Bronze Age Eastern Europe, tracking a movement of people that affected both regions and that likely spread the distinctive features shared between Indo-Iranian and Balto-Slavic languages.

Sign in / Sign up

Export Citation Format

Share Document