A positively selected FBN1 missense variant reduces height in Peruvian individuals.

On average, Peruvian individuals are among the shortest in the world1. Here we show that Native American ancestry is associated with reduced height in an ethnically diverse group of Peruvian individuals, and identify a population-specific, missense variant in the FBN1 gene (E1297G) that is significantly associated with lower height. Each copy of the minor allele (frequency of 4.7%) reduces height by 2.2 cm (4.4 cm in homozygous individuals). To our knowledge, this is the largest effect size known for a common height-associated variant. FBN1 encodes the extracellular matrix protein fibrillin 1, which is a major structural component of microfibrils. We observed less densely packed fibrillin-1-rich microfibrils with irregular edges in the skin of individuals who were homozygous for G1297 compared with individuals who were homozygous for E1297. Moreover, we show that the E1297G locus is under positive selection in non-African populations, and that the E1297 variant shows subtle evidence of positive selection specifically within the Peruvian population. This variant is also significantly more frequent in coastal Peruvian populations than in populations from the Andes or the Amazon, which suggests that short stature might be the result of adaptation to factors that are associated with the coastal environment in Peru.

Native American gene flow into Polynesia predating Easter Island settlement.

The possibility of voyaging contact between prehistoric Polynesian and Native American populations has long intrigued researchers. Proponents have pointed to the existence of New World crops, such as the sweet potato and bottle gourd, in the Polynesian archaeological record, but nowhere else outside the pre-Columbian Americas1-6, while critics have argued that these botanical dispersals need not have been human mediated7. The Norwegian explorer Thor Heyerdahl controversially suggested that prehistoric South American populations had an important role in the settlement of east Polynesia and particularly of Easter Island (Rapa Nui)2. Several limited molecular genetic studies have reached opposing conclusions, and the possibility continues to be as hotly contested today as it was when first suggested8-12. Here we analyse genome-wide variation in individuals from islands across Polynesia for signs of Native American admixture, analysing 807 individuals from 17 island populations and 15 Pacific coast Native American groups. We find conclusive evidence for prehistoric contact of Polynesian individuals with Native American individuals (around AD 1200) contemporaneous with the settlement of remote Oceania13-15. Our analyses suggest strongly that a single contact event occurred in eastern Polynesia, before the settlement of Rapa Nui, between Polynesian individuals and a Native American group most closely related to the indigenous inhabitants of present-day Colombia.

Ethnic differences in disability-free life expectancy and disabled life expectancy in older adults in Chile.

BACKGROUND: Although about 10% of the Latin American population is indigenous, ethnic differences in disability-free life expectancy (DFLE) and life expectancy with disability (DLE) are unknown. OBJECTIVE: To estimate disability-free life expectancy and disabled life expectancy among Mapuche (the largest indigenous group) and non-indigenous older adults aged 60 years or more in Chile. METHOD: Disability was measured following a methodology that combines limitations of daily living, cognitive impairment and dependence previously validated in Chile. Finally, the DFLE was estimated using Sullivan's method combining life tables by ethnicity and disability proportions from the EDES survey designed for the study of ethnic differentials in health and longevity in Chile. RESULTS: Non-Indigenous people have a higher total and Disability-free life expectancy compared to Mapuche people at all ages. While at age 60 a Mapuche expects to live 18.9 years, of which 9.4 are disability-free, a non-Indigenous expects to live 26.4 years, of which 14 are disability-free. In addition, although the length of life with disability increases with age for both populations, Mapuche who survive to age 80 or 90 expect to live 84% and 91% of their remaining life with disability, higher proportions compared to non-indigenous people (62.9% and 75%, respectively). CONCLUSIONS: This is the first study addressing inequities in DFLE between the Mapuche and non-Indigenous population, reflected in lower total life expectancy, lower DFLE and higher DLE in Mapuche compared to the non-Indigenous population. Our results underscore the need for increased capacity to monitor mortality risks among older people, considering ethnic differences.

Fourteen-year trends in overweight, general obesity, and abdominal obesity in Amazonian indigenous peoples.

BACKGROUND: Available data show that the epidemiological profile of most indigenous Brazilian populations is characterized by the coexistence of long-standing health problems (high prevalence of infectious and parasitic diseases, malnutrition, and deficiency diseases, such as anemia in children and women of reproductive age), associated with new health problems, especially those related to obesity (hypertension, type 2 diabetes mellitus and dyslipidemia). Based on this scenario, this study analyzed the nutritional profile of the adult population of seven indigenous peoples from the Brazilian Amazon in the years 2007 and 2021. METHODS: A total of 598 adults individuals were analyzed in 2007 (319 women and 279 men) and 924 in 2021 (483 women and 441 men), from seven indigenous peoples located in the state of Pará, who were assisted during health actions carried out in 2007 and in 2021. Body mass index classification used the World Health Organization criteria for adults: low weight, < 18.5 kg/m2; normal weight, ≥ 18.5 and < 25 kg/m2); overweight, ≥ 25 and < 30 kg/m2, and obesity, ≥ 30 kg/m2. A waist circumference (WC) < 90 cm in men and < 80 cm in women was considered normal. RESULTS: The data revealed heterogeneous anthropometric profiles, with a low prevalence of nutritional changes in the Araweté, Arara and Parakanã peoples, and high proportions of excess weight and abdominal obesity in the Kararaô, Xikrin do Bacajá, Asurini do Xingu and Gavião peoples, similar to or even higher than the national averages. CONCLUSION: Different stages of nutritional transition were identified in the indigenous peoples analyzed, despite apparently having been subjected to the same environmental pressures that shaped their nutritional profile in recent decades, which may indicate different genetic susceptibilities to nutritional changes. The evidence shown in this study strongly suggests the need to investigate in greater depth the genetic and environmental factors associated with the nutritional profile of Brazilian indigenous peoples, with assessment of diet, physical activity and sociodemographic and socioeconomic variables that enable the development of appropriate prevention and monitoring measures.

Scabies in French Guiana: Quantitative and qualitative factors associated with therapeutic failure.

BACKGROUND: Strategies for the control of scabies should be adapted to local settings. Traditional communities in French Guiana have non-Western conceptions of disease and health. OBJECTIVES: The objectives for this study were to explore knowledge, attitudes and practices to identify potential factors associated with the failure of scabies treatment in these communities. METHODS: Patients with a clinical diagnosis of scabies, seen at either the Cayenne Hospital or one of 13 health centres between 01 April 2021 and 31 August 2021, were included as participants, and were seen again after 6 weeks to check for persistence of lesions. Factors associated with treatment failure were looked for both at inclusion and at 6 weeks. Semi-structured interviews were conducted with a diversified subsample of participants. RESULTS: In total, 164 participants were included in the quantitative component, and 21 were interviewed for the qualitative component. Declaring that the second treatment dose had been taken was associated with therapeutic success. Western treatments were not always affordable. Better adherence was observed with topical treatments than with oral ivermectin, whereas permethrin monotherapy was associated with failure. Scabies-associated stigma was high among Amerindians and Haitians but absent in Ndjuka Maroons. Participants reported environmental disinfection as being very complex. CONCLUSIONS: The treatment of scabies in traditional Guianan communities may vary depending on local perceptions of galenic formulations, disease-associated stigma and differences in access to health care. These factors should be taken into account when devising strategies for the control of scabies aimed at traditional communities living in remote areas, and migrant populations.

Aging in Indigenous Communities: Perspective from Two Ancestral Communities in the Colombian Andean-Amazon Region.

The phenomenon of world aging is not foreign to indigenous communities. In the last few years, research about these communities around the world has increased, but aging in indigenous towns still has not been studied widely. The purpose of this research is to interpret the meaning of old age in two indigenous communities from the Colombian Andean-Amazon region (the Inga and Kamëntsa) to reinforce the relevance of the local sociocultural context within the configuration of the meaning of old age and to emphasize the importance of considering particular regional characteristics for the design of policies and interventions aiming to recognize and integrate indigenous populations. This is a qualitative study with an interactionism-symbolism approach. In total, six indigenous people older than 60 years from two ancestral communities from the Colombian Andean-Amazon region participated in the in-depth interviews. Data analysis was carried out in three moments: discovery, coding, and relativization of the information. The results show that old age means wisdom, "I am wise," which is supported in the cosmology and the trajectory of life, reinforces the identity and autonomy, and allows them to be agents in the dynamics of their communities from the "I do," in other words, their roles as builders of the family-society and as guards of ancestral knowledge. The loss of this knowledge and the elements that it is composed of uproot them and put them at risk of disappearing as individuals and as a collective. In conclusion, the meaning of old age in these communities is not centered on a determinate age; you are not old, you are wise, and as such, they play a central role in their communities. Moreover, wisdom is built in parallel with their cosmology and assigns them the task of safekeeping ancestral knowledge. In order to do this, they use oral tradition as a tool, words that are born in their territories, travel in a nonlinear timeline, and get strengthened by the community while also protecting it and building it. Knowing what aging means for Indigenous communities can facilitate to the development of policies and initiatives and to provide culturally appropriate and effective programs.

Population Histories and Genomic Diversity of South American Natives.

South America is home to one of the most culturally diverse present-day native populations. However, the dispersion pattern, genetic substructure, and demographic complexity within South America are still poorly understood. Based on genome-wide data of 58 native populations, we provide a comprehensive scenario of South American indigenous groups considering the genomic, environmental, and linguistic data. Clear patterns of genetic structure were inferred among the South American natives, presenting at least four primary genetic clusters in the Amazonian and savanna regions and three clusters in the Andes and Pacific coast. We detected a cline of genetic variation along a west-east axis, contradicting a hard Andes-Amazon divide. This longitudinal genetic variation seemed to have been shaped by both serial population bottlenecks and isolation by distance. Results indicated that present-day South American substructures recapitulate ancient macroregional ancestries and western Amazonia groups show genetic evidence of cultural exchanges that led to language replacement in precontact times. Finally, demographic inferences pointed to a higher resilience of the western South American groups regarding population collapses caused by the European invasion and indicated precontact population reductions and demic expansions in South America.

Remarkably Low KIR and HLA Diversity in Amerindians Reveals Signatures of Strong Purifying Selection Shaping the Centromeric KIR Region.

The killer-cell immunoglobulin-like receptors (KIR) recognize human leukocyte antigen (HLA) molecules to regulate the cytotoxic and inflammatory responses of natural killer cells. KIR genes are encoded by a rapidly evolving gene family on chromosome 19 and present an unusual variation of presence and absence of genes and high allelic diversity. Although many studies have associated KIR polymorphism with susceptibility to several diseases over the last decades, the high-resolution allele-level haplotypes have only recently started to be described in populations. Here, we use a highly innovative custom next-generation sequencing method that provides a state-of-art characterization of KIR and HLA diversity in 706 individuals from eight unique South American populations: five Amerindian populations from Brazil (three Guarani and two Kaingang); one Amerindian population from Paraguay (Aché); and two urban populations from Southern Brazil (European and Japanese descendants from Curitiba). For the first time, we describe complete high-resolution KIR haplotypes in South American populations, exploring copy number, linkage disequilibrium, and KIR-HLA interactions. We show that all Amerindians analyzed to date exhibit the lowest numbers of KIR-HLA interactions among all described worldwide populations, and that 83-97% of their KIR-HLA interactions rely on a few HLA-C molecules. Using multiple approaches, we found signatures of strong purifying selection on the KIR centromeric region, which codes for the strongest NK cell educator receptors, possibly driven by the limited HLA diversity in these populations. Our study expands the current knowledge of KIR genetic diversity in populations to understand KIR-HLA coevolution and its impact on human health and survival.

Integration of ancient DNA with transdisciplinary dataset finds strong support for Inca resettlement in the south Peruvian coast.

Ancient DNA (aDNA) analysis provides a powerful means of investigating human migration, social organization, and a plethora of other crucial questions about humanity's past. Recently, specialists have suggested that the ideal research design involving aDNA would include multiple independent lines of evidence. In this paper, we adopt a transdisciplinary approach integrating aDNA with archaeological, biogeochemical, and historical data to investigate six individuals found in two cemeteries that date to the Late Horizon (1400 to 1532 CE) and Colonial (1532 to 1825 CE) periods in the Chincha Valley of southern Peru. Genomic analyses indicate that these individuals are genetically most similar to ancient and present-day populations from the north Peruvian coast located several hundred kilometers away. These genomic data are consistent with 16th century written records as well as ceramic, textile, and isotopic data. These results provide some of the strongest evidence yet of state-sponsored resettlement in the pre-Colonial Andes. This study highlights the power of transdisciplinary research designs when using aDNA data and sets a methodological standard for investigating ancient mobility in complex societies.

Genomic insight into the origins and dispersal of the Brazilian coastal natives.

In the 15th century, ∼900,000 Native Americans, mostly Tupí speakers, lived on the Brazilian coast. By the end of the 18th century, the coastal native populations were declared extinct. The Tupí arrived on the east coast after leaving the Amazonian basin ∼2,000 y before present; however, there is no consensus on how this migration occurred: toward the northern Amazon and then directly to the Atlantic coast, or heading south into the continent and then migrating to the coast. Here we leveraged genomic data from one of the last remaining putative representatives of the Tupí coastal branch, a small, admixed, self-reported Tupiniquim community, as well as data of a Guaraní Mbyá native population from Southern Brazil and of three other native populations from the Amazonian region. We demonstrated that the Tupiniquim Native American ancestry is not related to any extant Brazilian Native American population already studied, and thus they could be considered the only living representatives of the extinct Tupí branch that used to settle the Atlantic Coast of Brazil. Furthermore, these data show evidence of a direct migration from Amazon to the Northeast Coast in pre-Columbian time, giving rise to the Tupí Coastal populations, and a single distinct migration southward that originated the Guaraní people from Brazil and Paraguay. This study elucidates the population dynamics and diversification of the Brazilian natives at a genomic level, which was made possible by recovering data from the Brazilian coastal population through the genomes of mestizo individuals.

The genetic structure and adaptation of Andean highlanders and Amazonians are influenced by the interplay between geography and culture.

Western South America was one of the worldwide cradles of civilization. The well-known Inca Empire was the tip of the iceberg of an evolutionary process that started 11,000 to 14,000 years ago. Genetic data from 18 Peruvian populations reveal the following: 1) The between-population homogenization of the central southern Andes and its differentiation with respect to Amazonian populations of similar latitudes do not extend northward. Instead, longitudinal gene flow between the northern coast of Peru, Andes, and Amazonia accompanied cultural and socioeconomic interactions revealed by archeology. This pattern recapitulates the environmental and cultural differentiation between the fertile north, where altitudes are lower, and the arid south, where the Andes are higher, acting as a genetic barrier between the sharply different environments of the Andes and Amazonia. 2) The genetic homogenization between the populations of the arid Andes is not only due to migrations during the Inca Empire or the subsequent colonial period. It started at least during the earlier expansion of the Wari Empire (600 to 1,000 years before present). 3) This demographic history allowed for cases of positive natural selection in the high and arid Andes vs. the low Amazon tropical forest: in the Andes, a putative enhancer in HAND2-AS1 (heart and neural crest derivatives expressed 2 antisense RNA1, a noncoding gene related to cardiovascular function) and rs269868-C/Ser1067 in DUOX2 (dual oxidase 2, related to thyroid function and innate immunity) genes and, in the Amazon, the gene encoding for the CD45 protein, essential for antigen recognition by T and B lymphocytes in viral-host interaction.

Indifference to dissonance in native Amazonians reveals cultural variation in music perception.

by biology remains debated. One widely discussed phenomenon is that some combinations of notes are perceived by Westerners as pleasant, or consonant, whereas others are perceived as unpleasant,or dissonant. The contrast between consonance and dissonance is central to Western music and its origins have fascinated scholars since the ancient Greeks. Aesthetic responses to consonance are commonly assumed by scientists to have biological roots, and thus to be universally present in humans. Ethnomusicologists and composers, in contrast, have argued that consonance is a creation of Western musical culture. The issue has remained unresolved, partly because little is known about the extent of cross-cultural variation in consonance preferences. Here we report experiments with the Tsimane'--a native Amazonian society with minimal exposure to Western culture--and comparison populations in Bolivia and the United States that varied in exposure to Western music. Participants rated the pleasantness of sounds. Despite exhibiting Western-like discrimination abilities and Western-like aesthetic responses to familiar sounds and acoustic roughness, the Tsimane' rated consonant and dissonant chords and vocal harmonies as equally pleasant. By contrast, Bolivian city- and town-dwellers exhibited significant preferences for consonance,albeit to a lesser degree than US residents. The results indicate that consonance preferences can be absent in cultures sufficiently isolated from Western music, and are thus unlikely to reflect innate biases or exposure to harmonic natural sounds. The observed variation in preferences is presumably determined by exposure to musical harmony, suggesting that culture has a dominant role in shaping aesthetic responses to music.

Ancient DNA analysis reveals temporal and geographical patterns of mitochondrial diversity in pre-Hispanic populations from Central Argentina.

OBJECTIVES: The study of the ancient populations of Central Argentina has a crucial importance for our understanding of the evolutionary processes in the Southern Cone of South America, given its geographic position as a crossroads. Therefore, the aim of this study is to evaluate the temporal and geographical patterns of genetic variation among the groups that inhabited the current territory of Córdoba Province during the Middle and Late Holocene. METHODS: We analyzed the mitochondrial haplogroups of 74 individuals and 46 Hypervariable Region I (HVR-I) sequences, both novel and previously reported, from archeological populations of the eastern Plains and western Sierras regions of the province of Córdoba. The HVR-I sequences were also compared with other ancient groups from Argentina and with present-day populations from Central Argentina by pairwise distance analysis and identification of shared haplotypes. RESULTS: Significant differences in haplogroup and haplotype distributions between the two geographical regions were found. Sierras showed genetic affinities with certain ancient populations of Northwestern Argentina, while Plains resembled its neighbors from Santiago del Estero Province and the Pampas region. We did not observe genetic differences among the pre 1200 and post 1200 yBP temporal subsets of individuals defined by the emergence of horticulture, considering both geographical samples jointly. CONCLUSIONS: The observed patterns of geographical heterogeneity could indicate the existence of biologically distinct populations inhabiting the mountainous region and the eastern plains of Córdoba Province in pre-Hispanic times. Maternal lineages analyses support a scenario of local evolution with great temporal depth in Central Argentina, with continuity until the present.

Indigenous knowledge networks in the face of global change.

Indigenous communities rely extensively on plants for food, shelter, and medicine. It is still unknown, however, to what degree their survival is jeopardized by the loss of either plant species or knowledge about their services. To fill this gap, here we introduce indigenous knowledge networks describing the wisdom of indigenous people on plant species and the services they provide. Our results across 57 Neotropical communities show that cultural heritage is as important as plants for preserving indigenous knowledge both locally and regionally. Indeed, knowledge networks collapse as fast when plant species are driven extinct as when cultural diffusion, either within or among communities, is lost. But it is the joint loss of plant species and knowledge that erodes these networks at a much higher rate. Our findings pave the road toward integrative policies that recognize more explicitly the inseparable links between cultural and biological heritage.

Underwater ritual offerings in the Island of the Sun and the formation of the Tiwanaku state.

Considerable debate surrounds the economic, political, and ideological systems that constitute primary state formation. Theoretical and empirical research emphasize the role of religion as a significant institution for promoting the consolidation and reproduction of archaic states. The Tiwanaku state developed in the Lake Titicaca Basin between the 5th and 12th centuries CE and extended its influence over much of the south-central Andes of South America. We report on recent discoveries from the first systematic underwater archaeological excavations in the Khoa Reef near the Island of the Sun, Bolivia. The depositional context and compositional properties of offerings consisting of ceramic feline incense burners, killed juvenile llamas, and sumptuary metal, shell, and lapidary ornaments allow us to reconstruct the structure and significance of cyclically repeated state rituals. Using new theoretical tools, we explain the role of these rituals in promoting the consolidation of the Tiwanaku polity.

Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys.

Puberty is a complex developmental process that varies considerably among individuals and populations. Genetic factors explain a large proportion of the variability of several pubertal traits. Recent genome-wide association studies (GWAS) have identified hundreds of variants involved in traits that result from body growth, like adult height. However, they do not capture many genetic loci involved in growth changes over distinct growth phases. Further, such GWAS have been mostly performed in Europeans, but it is unknown how these findings relate to other continental populations. In this study, we analyzed the genetic basis of three pubertal traits; namely, peak height velocity (PV), age at PV (APV) and height at APV (HAPV). We analyzed a cohort of 904 admixed Chilean children and adolescents with European and Mapuche Native American ancestries. Height was measured on roughly a [Formula: see text]month basis from childhood to adolescence between 2006 and 2019. We predict that, in average, HAPV is 4.3 cm higher in European than in Mapuche adolescents (P = 0.042), and APV is 0.73 years later in European compared with Mapuche adolescents (P = 0.023). Further, by performing a GWAS on 774, 433 single-nucleotide polymorphisms, we identified a genetic signal harboring 3 linked variants significantly associated with PV in boys (P [Formula: see text]). This signal has never been associated with growth-related traits.

The malaria burden of Amerindian groups of three Venezuelan states: a descriptive study based on programmatic data.

BACKGROUND: Fifty-three percent of all cases of malaria in the Americas in 2019 came from Venezuela, where the epidemic is heavily focused south of the Orinoco river, and where most of the country's Amerindian groups live. Although the disease is known to represent a significant public health problem among these populations, little epidemiological data exists on the subject. This study aims to provide information on malaria incidence, geospatial clustering, and risk factors associated to Plasmodium falciparum infection among these groups. METHODS: This is a descriptive study based on the analysis of published and unpublished programmatic data collected by Venezuelan health authorities and non-government organizations between 2014 and 2018. The Annual Parasite Index among indigenous groups (API-i) in municipalities of three states (Amazonas, Bolivar, and Sucre) were calculated and compared using the Kruskal Wallis test, risk factors for Plasmodium falciparum infection were identified via binomial logistic regression and maps were constructed to identify clusters of malaria cases among indigenous patients via Moran's I and Getis-Ord's hot spot analysis. RESULTS: 116,097 cases of malaria in Amerindian groups were registered during the study period. An increasing trend was observed between 2014 and 2016 but reverted in 2018. Malaria incidence remains higher than in 2014 and hot spots were identified in the three states, although more importantly in the south of Bolivar. Most cases (73.3%) were caused by Plasmodium vivax, but the Hoti, Yanomami, and Eñepa indigenous groups presented higher odds for infection with Plasmodium falciparum. CONCLUSION: Malaria cases among Amerindian populations increased between 2014 and 2018 and seem to have a different geographic distribution than those among the general population. These findings suggest that tailored interventions will be necessary to curb the impact of malaria transmission in these groups.

Allelic frequencies with 23 autosomic STRS in the Aymara population of Peru.

Population data of the Aymara in the province of Puno were established for 23 autosomal STR markers. DNA was obtained from unrelated individuals (n = 190) who reside in three areas of the Floating Islands of Lake Titicaca, residents on the border with Bolivia and residents who are not from the border with Bolivia. The PENTA E marker presented the highest PD (0.9738), PIC (0.8793), and PM (0.7847) values. The combined PD was greater than 0.99999999 and the combined PE was 0.99999994. The largest distance, based on Fst values, was between the Aymara population and the Ashaninca population (0.04022), and the smallest distance was with the populations of Bolivia (0.00136) and Peru (0.00525).