Individual Admixture Research Articles

Asymmetric introgression between fishes in the Red River basin of Texas is associated with variation in water quality.

When ecologically divergent taxa encounter one another, hybrid zones can form when reproductive isolation is incomplete. The location of such hybrid zones can be influenced by environmental variables, and an ecological context can provide unique insights into the mechanisms by which species diverge and are maintained. Two ecologically differentiated species of small benthic fishes, the endemic and imperiled prairie chub, Macrhybopsis australis, and the shoal chub, Macrhybopsis hyostoma, are locally sympatric within the upper Red River Basin of Texas. We integrated population genomic data and environmental data to investigate species divergence and the maintenance of species boundaries in these two species. We found evidence of advanced‐generation asymmetric hybridization and introgression, with shoal chub alleles introgressing more frequently into prairie chubs than the reciprocal. Using a Bayesian Genomic Cline framework, patterns of genomic introgression were revealed to be quite heterogeneous, yet shoal chub alleles were found to have likely selectively introgressed across species boundaries significantly more often than prairie chub alleles, potentially explaining some of the observed asymmetry in hybridization. These patterns were remarkably consistent across two sampled geographic regions of hybridization. Several environmental variables were found to significantly predict individual admixture, suggesting ecological isolation might maintain species boundaries.

Estimating Asian Contribution to the Brazilian Population: A New Application of a Validated Set of 61 Ancestry Informative Markers.

Estimates of different ancestral proportions in admixed populations are very important in population genetics studies, especially for the detection of population substructure effects in studies of case-control associations. Brazil is one of the most heterogeneous countries in the world, both from a socio-cultural and a genetic point of view. In this work, we investigated a previously developed set of 61 ancestry informative markers (AIM), aiming to estimate the proportions of four different ancestral groups (African, European, Native American and Asian) in Brazilian populations. To the best of our knowledge, this is the first study to use a set of AIM to investigate the genetic contribution of all four main parental populations to the Brazilian population, including Asian contribution. All selected markers were genotyped through multiplex PCR and capillary electrophoresis. The set was able to successfully differentiate the four ancestral populations (represented by 939 individuals) and identify their genetic contributions to the Brazilian population. In addition, it was used to estimate individual interethnic admixture of 1050 individuals from the Southeast region of Brazil and it showed that these individuals present a higher European ancestry contribution, followed by African, Asian and Native American ancestry contributions. Therefore, the 61 AIM set has proved to be a valuable tool to estimate individual and global ancestry proportions in populations mainly formed by these four groups. Our findings highlight the importance of using sets of AIM to evaluate population substructure in studies carried in admixed populations, in order to avoid misinterpretation of results.

Genetic diversity and gene flow of the threatened Brazilian endemic parrotfish Scarus trispinosus (Valenciennes, 1840)

The greenback parrotfish, Scarus trispinosus, is the largest herbivorous fish inhabiting Southwestern Atlantic reefs, and was recently included in the IUCN red list of threatened species as endangered due to the overexploitation of their populations. The aim of this work was to evaluate the existence of structured populations (i.e. genetic unities) along a coast of approximately 2000 km of the NE Brazilian coast. The transferability of 17 primers synthesized for Scarus rubroviolaceus was tested for S. trispinosus and five transferable loci were validated and used. Two localities within the Abrolhos Bank, off the Central Brazilian coast (Corumbau and Caravelas) and in close proximity to the MPA, which encompasses the largest remnants of the S. trispinosus population, exhibited higher levels of genetic richness. Remaining locations, Pernambuco, Porto Seguro and Rio Grande do Norte exhibited lower genetic diversity. We found no genetic differences among sampled localities however, when those samples were gathered into latitudinal groups (northern vs southern) a subtle but significant genetic substructuring was revealed. It is proposed that a combination of high local individual admixture favoured by habitat connectivity drived genetic homogeneity at regional scales while larval dispersal contributed to heterogeneities observed at large scales maintaining gene flow through oceanographic currents.

Admixture, Genetics and Complex Diseases in Latin Americans and US Hispanics

We review population and epidemiological genetics studies in Latin Americans and US Hispanics/Latinos, who are product of admixture between Europeans, Africans, and Native Americans. Admixture studies identified a Southeastern-Africa/Bantu ancestry component more prevalent in Brazil. Contrasting dynamics of Native American introgression into admixed populations were inferred: > 400 years ago in Brazil, where Native American populations were decimated afterwards, and concentrated on the last 300 years in Peru, a predominantly indigenous country. Associations have been reported between phenotypes and individual ancestry, including subcomponents of Native American ancestry, such as gallbladder cancer with Chilean-Mapuche ancestry and lung function with a west-east component of Native American ancestry in Mexico. Individuals from Latin America are underrepresented in genome-wide association studies (GWAS), despite an important increase in their inclusion during the last quinquennium. GWAS and admixture mapping have found variants associated with anthropometric, cardiovascular, immunological, hematological, neurological, and endocrine-related traits/diseases, as well as cancer. In the interface between Mendelian diseases and ancestry, a GWAS identified Venezuelan-specific modifiers of Huntington’s disease onset. The mutational landscape of hereditary breast cancer has been better characterized. Moreover, next-generation sequencing is allowing the identification of new mutations with different ancestral origins in different Latin American populations. The tsunami of new genetic markers and statistical methods allow us to consider three levels of biogeographic ancestry in Latin Americans: populational, individual, and local chromosome admixture. The challenge is how to integrate these levels of ancestry to understand the genetic architecture of diseases.

Isolation and characterization of microsatellite markers for conservation management of the endangered Great-billed Seed-finch, Sporophila maximiliani (Aves, Passeriformes), and cross-amplification in other congeners.

The Great-billed Seed-finch, Sporophila maximiliani, is a threatened neotropical bird that has declined mainly due to illegal trapping, with very few records in the wild in the last two decades. Despite the existence of a considerable captive population that could be used for reintroductions into the wild, many individuals are known to be hybrids either with other species or subspecies of the genus. Forensic investigations are urgently needed to distinguish between birds born in captivity from those from illegal trade. Microsatellites can be useful tools to assess individual admixture levels and to perform parentage tests that may confirm the origin of animals, but only a few loci are available for this group of birds. Here, we provide a set of 14 microsatellite loci isolated from the S. maximiliani, many of which also amplified and were polymorphic in the Pearly-bellied Seedeater, S. pileata, and in the Copper Seedeater, S. bouvreuil. In ten loci selected for the S. maximiliani, the number of alleles per locus varied from four to nine and observed and expected heterozygosities ranged from 0.13 to 1 and 0.56 to 0.83, respectively. These loci proved to be highly informative for forensic analyses, indicating that they may be useful for conservation management plans in these endangered tropical birds.

Fast inference of individual admixture coefficients using geographic data

Accurately evaluating the distribution of genetic ancestry across geographic space is one of the main questions addressed by evolutionary biologists. This question has been commonly addressed through the application of Bayesian estimation programs allowing their users to estimate individual admixture proportions and allele frequencies among putative ancestral populations. Following the explosion of high-throughput sequencing technologies, several algorithms have been proposed to cope with computational burden generated by the massive data in those studies. In this context, incorporating geographic proximity in ancestry estimation algorithms is an open statistical and computational challenge. In this study, we introduce new algorithms that use geographic information to estimate ancestry proportions and ancestral genotype frequencies from population genetic data. Our algorithms combine matrix factorization methods and spatial statistics to provide estimates of ancestry matrices based on least-squares approximation. We demonstrate the benefit of using spatial algorithms through extensive computer simulations, and we provide an example of application of our new algorithms to a set of spatially referenced samples for the plant species Arabidopsis thaliana. Without loss of statistical accuracy, the new algorithms exhibit runtimes that are much shorter than those observed for previously developed spatial methods. Our algorithms are implemented in the R package, tess3r.

Maintaining their genetic distance: Little evidence for introgression between widely hybridizing species of Geum with contrasting mating systems.

Within the plant kingdom, many genera contain sister lineages with contrasting outcrossing and inbreeding mating systems that are known to hybridize. The evolutionary fate of these sister lineages is likely to be influenced by the extent to which they exchange genes. We measured gene flow between outcrossing Geum rivale and selfing Geum urbanum, sister species that hybridize in contemporary populations. We generated and used a draft genome of G. urbanum to develop dd‐RAD data scorable in both species. Coalescent analysis of RAD data from allopatric populations indicated that the species diverged 2–3 Mya, and that historical gene flow between them was extremely low (1 migrant every 25 generations). Comparison of genetic divergence between species in sympatry and allopatry, together with an analysis of allele frequencies in potential parental and hybrid populations, provided no evidence of contemporary introgression in sympatric populations. Cluster‐ and species‐specific marker analyses revealed that, apart from four early‐generation hybrids, individuals in sympatric populations fell into two genetically distinct groups that corresponded exactly to their morphological species classification with maximum individual admixture estimates of only 1–3%. However, we did observe joint segregation of four putatively introgressed SNPs across two scaffolds in the G. urbanum population that was associated with significant morphological variation, interpreted as tentative evidence for rare, recent interspecific gene flow. Overall, our results indicate that despite the presence of hybrids in contemporary populations, genetic exchange between G. rivale and G. urbanum has been extremely limited throughout their evolutionary history.

Novel efficient genome-wide SNP panels for the conservation of the highly endangered Iberian lynx

BackgroundThe Iberian lynx (Lynx pardinus) has been acknowledged as the most endangered felid species in the world. An intense contraction and fragmentation during the twentieth century left less than 100 individuals split in two isolated and genetically eroded populations by 2002. Genetic monitoring and management so far have been based on 36 STRs, but their limited variability and the more complex situation of current populations demand more efficient molecular markers. The recent characterization of the Iberian lynx genome identified more than 1.6 million SNPs, of which 1536 were selected and genotyped in an extended Iberian lynx sample.MethodsWe validated 1492 SNPs and analysed their heterozygosity, Hardy-Weinberg equilibrium, and linkage disequilibrium. We then selected a panel of 343 minimally linked autosomal SNPs from which we extracted subsets optimized for four different typical tasks in conservation applications: individual identification, parentage assignment, relatedness estimation, and admixture classification, and compared their power to currently used STR panels.ResultsWe ascribed 21 SNPs to chromosome X based on their segregation patterns, and identified one additional marker that showed significant differentiation between sexes. For all applications considered, panels of autosomal SNPs showed higher power than the currently used STR set with only a very modest increase in the number of markers.ConclusionsThese novel panels of highly informative genome-wide SNPs provide more powerful, efficient, and flexible tools for the genetic management and non-invasive monitoring of Iberian lynx populations. This example highlights an important outcome of whole-genome studies in genetically threatened species.

Genetic diversity of flax accessions originating in the Alpine region: a case study for an ex situ germplasm evaluation based on molecular marker

Agro-biodiversity is currently experiencing severe genetic erosion due to mankind’s unsustainable activities. Because of initiatives following the goal of the conservation of biological diversity, so far seven million crop accessions are being conserved ex situ in gene banks worldwide. Many of these accessions are landraces being rich in gene diversity, silently awaiting their proper characterisation. This is a very critical part of any long-term strategy to enhance the productivity and resilience of crops and agricultural systems and—most importantly—to ensure the preservation of our cultural and biological heritage. In this study of an ex situ germplasm evaluation we analysed 27 flax (Linum usitatissimum L.) accessions originating in the Alpine region, provided by five local gene banks/providers. Based on genomic microsatellite markers (gSSRs), a varying extent of accession-specific gene diversity (expected heterozygosity, HE) was revealed ranging from 0.05 to 0.51. Admixture of individuals between accessions was uncovered, pointing towards past processes related to gene bank management activities (e.g. intentional selection, unintentional cross-pollination during regeneration) or towards the evolution of the landrace itself (e.g. same regional origin, traditional naming), highlighting the co-existence of cultural and biological diversity. Such an genetic analysis of accessions stored ex situ not only produces valuable agronomic and breeding data, but also is useful for the clarification of past processes leading to duplicates within and between collections or mislabelling, contributing to the potential for rationalisation of collections, which in turn can help ensure that the limited resources available for regeneration are used most efficiently and effectively.

Microsatellite assessment of the genetic diversity in indigenous populations of curimba (Prochilodus argenteus) in the São Francisco river (Brazil)

The freshwater fish curimba (Prochilodus argenteus) is an endemic species of the Sao Francisco River basin, with great aquaculture potential. The construction of several hydroelectric power dams along the river, and the pulsed releases of water from these dams altered and degraded the native fish habitats, which led to the development of a hatchery-reared fingerling restocking program. A comprehensive genetic baseline evaluation of the indigenous populations of curimba and of a hatchery stock was done using microsatellite markers. Pairwise F ST values, Bayesian analysis and the number of migrants per generation were used to illustrate the genetic structure of the curimba populations along almost 3000 km of the river, suggesting the existence of three units of conservation: one in the Upper, a second in the Middle and a third including part of the Middle, Submiddle and Lower stretches. We have analyzed the genetic contribution of hatchery stock releases in two stretches of the river using individual admixture coefficients; and the results showed that admixture makes a negligible contribution to indigenous recruitment. We discussed about supplementation programs for this river from the perspective of three units of conservation and the risks associated with using domesticated fish.

Introgression Threatens the Genetic Diversity of Quercus austrocochinchinensis (Fagaceae), an Endangered Oak: A Case Inferred by Molecular Markers.

Natural introgression can cause negative effects where rare species experience genetic assimilation and invade by their abundant congeners. Quercus austrocochinchinensis and Q. kerrii (subgenus Cyclobalanopsis) are a pair of closely related species in the Indo-China area. Morphological intermediates of the two species have been reported in this region. In this study, we used AFLP, SSR and two key leaf morphological diagnostic traits to study the two Q. austrocochinchinensis populations, two pure Q. kerrii and two putative hybrid populations in China. Rates of individual admixture were examined using the Bayesian clustering programs STRUCTURE and NewHybrids, with no a priori species assignment. In total, we obtained 151 SSR alleles and 781 polymorphic loci of AFLP markers. Population differentiation inferred by SSR and AFLP was incoherent with recognized species boundaries. Bayesian admixture analyses and principal coordinate analysis identified more hybrids and backcrossed individuals than morphological intermediates in the populations. SSR inferred a wide genetic assimilation in Q. austrocochinchinensis, except for subpopulation D2 in the core area of Xi-Shuang-Ban-Na Nature Reserve (XSBN). However, AFLP recognized more Q. austrocochinchinensis purebreds than SSR. Analysis using NewHybrids on AFLP data indicated that these hybridized individuals were few F2 and predominantly backcrosses with both parental species. All these evidences indicate the formation of a hybrid swarm at XSBN where the two species co-exist. Both AFLP and SSR recognized that the core protected area of XSBN (D2) has a high percentage of Q. austrocochinchinensis purebreds and a unique germplasm. The Hainan population and the other subpopulations of XSBN of the species might have lost their genetic integrity. Our results revealed a clear genetic differentiation in the populations and subpopulations of Q. austrocochinchinensis and ongoing introgression between Q. austrocochinchinensis and Q. kerrii at the disturbed contact areas. Combining the results from genetic and morphological analyses, the conservation of subpopulation D2 should be prioritized. Conservation and restoration of the integrity of tropical ravine rainforest is an important long-term goal for the successful conservation of Q. austrocochinchinensis. The fine-scale landscape might play an essential role in shaping the spatial patterns of hybridization. Further studies are needed to evaluate these patterns and dynamics.

Recovering the Genetic Identity of an Extinct-in-the-Wild Species: The Puzzling Case of the Alagoas Curassow.

The conservation of many endangered taxa relies on hybrid identification, and when hybrids become morphologically indistinguishable from the parental species, the use of molecular markers can assign individual admixture levels. Here, we present the puzzling case of the extinct in the wild Alagoas Curassow (Pauxi mitu), whose captive population descends from only three individuals. Hybridization with the Razor-billed Curassow (P. tuberosa) began more than eight generations ago, and admixture uncertainty affects the whole population. We applied an analysis framework that combined morphological diagnostic traits, Bayesian clustering analyses using 14 microsatellite loci, and mtDNA haplotypes to assess the ancestry of all individuals that were alive from 2008 to 2012. Simulated data revealed that our microsatellites could accurately assign an individual a hybrid origin until the second backcross generation, which permitted us to identify a pure group among the older, but still reproductive animals. No wild species has ever survived such a severe bottleneck, followed by hybridization, and studying the recovery capability of the selected pure Alagoas Curassow group might provide valuable insights into biological conservation theory.

Are Invasive Genotypes Superior? An Experimental Approach Using Native and Invasive Genotypes of the Invasive Grass <i>Phalaris Arundinacea</i>

The admixture and recombination of individuals from the native range into a new range may lead to the production of invasive genotypes that have higher fitness and wider climatic tolerances than the native genotypes. In this paper, we compare the survival and growth of native EU and invasive NA genotypes when planted back into the native EU range near where the EU genotypes were collected. We test this hypothesis using the invasive wetland grass Phalaris arundinacea. If invasive genotypes have evolved to have higher survival and growth, then they should outperform the native EU genotypes under field conditions that are better suited to the EU genotypes. Individual plants of the wetland grass, Phalaris arundinacea collected from native Europe (Czech Republic (CZ) and France (FR)) and North America (Vermont (VT) and North Carolina (NC)) were planted into common gardens in Trebon, Czech Republic (49.0042°N, 14.7721°E) and Moussac, France (43.9808°N, 4.2241°E). Invasive genotypes from North Carolina (NC) survived as well or better than native genotypes in both the Trebon and Moussac garden. Additionally, invasive NC genotypes suffered higher herbivore damage than native genotypes but their growth and survival were not significantly different than genotypes from the other re-gions. A companion field experiment that simulated biomass removal through grazing indicated that invasive NC genotypes recovered faster following grazing than genotypes from other regions. Our results suggest that not all invasive genotypes are superior and regional differences in aggressiveness between invasive genotypes are as great as differences between individuals from native and invasive populations. Introduction of genotypes leading to invasion depends upon the environmental conditions and the suitability of the climate for the introduced individuals.

Evolutionary history of subtropical evergreen broad-leaved forest in Yunnan Plateau and adjacent areas: an insight from Quercus schottkyana (Fagaceae)

Yunnan Plateau and its adjacent areas (YPA) with typical subtropical evergreen broad-leaved forests (SEBF) have a rich number of vascular plants and high endemism. However, how ancient geological and climatic events in YPA have shaped the SEBF remains poorly understood. In this study, we integrated multilocus phylogeography, species distribution models (SDMs), and regression analysis to investigate the effects of paleoenvironmental changes on the contemporary genetic patterns of Quercus schottkyana, an endemic and dominant evergreen oak in the YPA. A total of 380 samples were taken from 29 populations, covering the natural geographical distribution of Q. schottkyana. Molecular dating indicated that haplotype divergence began at late Miocene; this finding supported the hypothesis that major uplifting of YPA occurred after late Miocene, which led to the speciation and divergence of Q. schottkyana. Unlike previous biome reconstruction studies based on palynology data, our SDM analysis indicated that the distribution ranges of Q. schottkyana was comparatively stable after the Last Glacial Maximum (LGM) and experienced only a slight northward expansion afterward. Species genetic diversity showed a significant negative correlation to the habitat stability using regression analysis. These analyses suggested the admixture of individuals from genetically differentiated populations in the unstable habitats, which in turn increased the genetic diversity of Q. schottkyana. We also found that climate gradient along the latitude cline influenced the genetic structure of Q. schottkyana. This study provides new insights into the understanding of the evolutionary history of SEBF in YPA.

Estimation of local genetic ancestry in an admixed cattle population applying different methods

In current study, we estimated local genetic ancestry for Swiss-Fleckvieh dairy cattle population using two alternative approaches implemented in LAMP and MULTIMIX software. Swiss-Fleckvieh is a composite descending from Simmental and Red Holstein Friesian. Illumina BovineSNP50 Beadchip data for 485 animals were used. Genetic ancestries averaged across admixed animals indicated a high correlation of individual admixture at global levels (0.99), yet the correlation between genetic ancestries averaged across 7914 windows (5 SNPs each) was 0.55. The highest correlations of window-wise estimates were along chromosomes 2, 5, 12, 15, 21, 27 and 29 (≥0.80) and the lowest was −0.71 on chromosome 24. Based on LAMP results, a region on chromosome 13 (46.3–46.7 Mb) and three adjacent regions on chromosome 18 (18.8–19.2, 20.1–25.7 and 23.9–25.7 Mb) passed the threshold based on deviation from normal distribution of local ancestries assuming 1000 independent segments. Regarding MULTIMIX, another region on chromosome 22 (9.3–10.3 Mb) was significant. Although estimates from both programs are comparable at the global levels, there was considerable difference at the local levels.

Efficient analysis of large datasets and sex bias with ADMIXTURE.

BackgroundA number of large genomic datasets are being generated for studies of human ancestry and diseases. The ADMIXTURE program is commonly used to infer individual ancestry from genomic data.ResultsWe describe two improvements to the ADMIXTURE software. The first enables ADMIXTURE to infer ancestry for a new set of individuals using cluster allele frequencies from a reference set of individuals. Using data from the 1000 Genomes Project, we show that this allows ADMIXTURE to infer ancestry for 10,920 individuals in a few hours (a 5 × speedup). This mode also allows ADMIXTURE to correctly estimate individual ancestry and allele frequencies from a set of related individuals. The second modification allows ADMIXTURE to correctly handle X-chromosome (and other haploid) data from both males and females. We demonstrate increased power to detect sex-biased admixture in African-American individuals from the 1000 Genomes project using this extension.ConclusionsThese modifications make ADMIXTURE more efficient and versatile, allowing users to extract more information from large genomic datasets.Electronic supplementary materialThe online version of this article (doi:10.1186/s12859-016-1082-x) contains supplementary material, which is available to authorized users.

Selecting SNPs informative for African, American Indian and European Ancestry: application to the Family Investigation of Nephropathy and Diabetes (FIND).

BackgroundThe presence of population structure in a sample may confound the search for important genetic loci associated with disease. Our four samples in the Family Investigation of Nephropathy and Diabetes (FIND), European Americans, Mexican Americans, African Americans, and American Indians are part of a genome- wide association study in which population structure might be particularly important. We therefore decided to study in detail one component of this, individual genetic ancestry (IGA). From SNPs present on the Affymetrix 6.0 Human SNP array, we identified 3 sets of ancestry informative markers (AIMs), each maximized for the information in one the three contrasts among ancestral populations: Europeans (HAPMAP, CEU), Africans (HAPMAP, YRI and LWK), and Native Americans (full heritage Pima Indians). We estimate IGA and present an algorithm for their standard errors, compare IGA to principal components, emphasize the importance of balancing information in the ancestry informative markers (AIMs), and test the association of IGA with diabetic nephropathy in the combined sample.ResultsA fixed parental allele maximum likelihood algorithm was applied to the FIND to estimate IGA in four samples: 869 American Indians; 1385 African Americans; 1451 Mexican Americans; and 826 European Americans. When the information in the AIMs is unbalanced, the estimates are incorrect with large error. Individual genetic admixture is highly correlated with principle components for capturing population structure. It takes ~700 SNPs to reduce the average standard error of individual admixture below 0.01. When the samples are combined, the resulting population structure creates associations between IGA and diabetic nephropathy.ConclusionsThe identified set of AIMs, which include American Indian parental allele frequencies, may be particularly useful for estimating genetic admixture in populations from the Americas. Failure to balance information in maximum likelihood, poly-ancestry models creates biased estimates of individual admixture with large error. This also occurs when estimating IGA using the Bayesian clustering method as implemented in the program STRUCTURE. Odds ratios for the associations of IGA with disease are consistent with what is known about the incidence and prevalence of diabetic nephropathy in these populations.Electronic supplementary materialThe online version of this article (doi:10.1186/s12864-016-2654-x) contains supplementary material, which is available to authorized users.

Analysis of genetic diversity and structure in a genebank collection of red clover (Trifolium pratenseL.) using SSR markers

AbstractGenetic diversity of a red clover global collection was assessed using 36 simple sequence repeat (SSR) primers representing all seven linkage groups (LGs). The number of fragments amplified ranged from 1 to 6 for all the primers. Primer RCS0060 detected highest number of fragments, whereas four SSRs viz., RCS0899, RCS1594, TPSSR40 and RCS6927 amplified single fragment. Size range of amplicons generated by all the primers varied from 100 to 400 bp. Polymorphism information content values ranged from 0.301 to 0.719 with an average value of 0.605. LG wise diversity analysis showed that LG 3 was most diverse (I = 0.65, Ht = 0.44), whereas LG-1 showed minimum diversity (I = 0.48, Ht = 0.26) for the microsatellites used. Bayesian model-based clustering inferred three genetically distinct populations in the red clover germplasm holding and showed considerable admixture in individuals within clusters. Neighbour-joining analysis showed intermixing of accessions within groups. Principal component analysis plot complemented the clustering shown by Structure and distinguished three populations to greater extent. Analysis of molecular variance showed that 91% of the genetic variation was residing within populations, while 9% variation was among populations. Overall, the results showed that a high level of genetic diversity is prevailing in this worldwide collection of red clover, which can be exploited for its genetic improvement through breeding approaches.

The role of racial genetic admixture with endometrial cancer outcomes: An NRG Oncology/Gynecologic Oncology Group study

PurposeRacial genetic admixture (RGA), a measure to account for ancestral genetic background that correlates with individual's racial classification, could provide insights on causation of racial disparity in endometrial cancer (EC). Our objective is to evaluate the association of RGA with EC outcomes. MethodsEC patients enrolled onto the GOG-210 protocol were eligible. A randomized subcohort stratified by stage and self-reported race/ethnicity of black or white was used. Genotyping was performed using custom-selected Ancestry Informative Markers to calculate individual admixture estimates of African and European ancestral background. ResultsA total of 149 patients were evaluated (self-reported race: 70 black & 79 white). Mean RGA for African ancestry for self-reported black patients was 0.65 (range 0.04–0.86); while mean RGA for European ancestry for self-reported white patients was 0.77 (range 0.12–0.88). Progression-free survival (PFS) analysis using proportional hazards models stratified by stage and race revealed that each 0.10 increase in African ancestry was associated with worse PFS with hazard ratio (HR) of 1.11 (95% CI 0.90–1.37). Each 0.10 increase in European RGA was associated with improved PFS with HR of 0.86 (95% CI 0.69–1.07). Using tertiles of African RGA showed increasing risk of progression of death with increasing African RGA (with 0–5% as reference), HR (95% CIs) for top two tertiles are: 6%–66%: 1.38 (0.64, 2.97), and 67%–86%: 2.27 (0.74, 6.95). ConclusionRGA demonstrated a trend with PFS in self-reported black and white patients with EC. Patients with increased levels of African ancestry showed a trend towards worse survival after stratifying by stage/race.

A minimum set of ancestry informative markers for determining admixture proportions in a mixed American population: the Brazilian set.

The Brazilian population is considered to be highly admixed. The main contributing ancestral populations were European and African, with Amerindians contributing to a lesser extent. The aims of this study were to provide a resource for determining and quantifying individual continental ancestry using the smallest number of SNPs possible, thus allowing for a cost- and time-efficient strategy for genomic ancestry determination. We identified and validated a minimum set of 192 ancestry informative markers (AIMs) for the genetic ancestry determination of Brazilian populations. These markers were selected on the basis of their distribution throughout the human genome, and their capacity of being genotyped on widely available commercial platforms. We analyzed genotyping data from 6487 individuals belonging to three Brazilian cohorts. Estimates of individual admixture using this 192 AIM panels were highly correlated with estimates using ~370 000 genome-wide SNPs: 91%, 92%, and 74% of, respectively, African, European, and Native American ancestry components. Besides that, 192 AIMs are well distributed among populations from these ancestral continents, allowing greater freedom in future studies with this panel regarding the choice of reference populations. We also observed that genetic ancestry inferred by AIMs provides similar association results to the one obtained using ancestry inferred by genomic data (370 K SNPs) in a simple regression model with rs1426654, related to skin pigmentation, genotypes as dependent variable. In conclusion, these markers can be used to identify and accurately quantify ancestry of Latin Americans or US Hispanics/Latino individuals, in particular in the context of fine-mapping strategies that require the quantification of continental ancestry in thousands of individuals.