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1.
Hum Mol Genet ; 33(19): 1660-1670, 2024 Sep 19.
Artículo en Inglés | MEDLINE | ID: mdl-38981621

RESUMEN

Early or late pubertal onset can lead to disease in adulthood, including cancer, obesity, type 2 diabetes, metabolic disorders, bone fractures, and psychopathologies. Thus, knowing the age at which puberty is attained is crucial as it can serve as a risk factor for future diseases. Pubertal development is divided into five stages of sexual maturation in boys and girls according to the standardized Tanner scale. We performed genome-wide association studies (GWAS) on the "Growth and Obesity Chilean Cohort Study" cohort composed of admixed children with mainly European and Native American ancestry. Using joint models that integrate time-to-event data with longitudinal trajectories of body mass index (BMI), we identified genetic variants associated with phenotypic transitions between pairs of Tanner stages. We identified $42$ novel significant associations, most of them in boys. The GWAS on Tanner $3\rightarrow 4$ transition in boys captured an association peak around the growth-related genes LARS2 and LIMD1 genes, the former of which causes ovarian dysfunction when mutated. The associated variants are expression and splicing Quantitative Trait Loci regulating gene expression and alternative splicing in multiple tissues. Further, higher individual Native American genetic ancestry proportions predicted a significantly earlier puberty onset in boys but not in girls. Finally, the joint models identified a longitudinal BMI parameter significantly associated with several Tanner stages' transitions, confirming the association of BMI with pubertal timing.


Asunto(s)
Índice de Masa Corporal , Estudio de Asociación del Genoma Completo , Pubertad , Humanos , Masculino , Pubertad/genética , Femenino , Chile , Niño , Adolescente , Polimorfismo de Nucleótido Simple/genética , Sitios de Carácter Cuantitativo , Maduración Sexual/genética , Estudios de Cohortes , Obesidad/genética
2.
Int J Legal Med ; 138(5): 2169-2179, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38763925

RESUMEN

The present study analyzes morphological differences femora of contemporary Japanese and Western Australian individuals and investigates the feasibility of population affinity estimation based on computed tomographic (CT) data. The latter is deemed to be of practical importance because most anthropological methods rely on the assessment of aspects of skull morphology, which when damaged and/or unavailable, often hampers attempts to estimate population affinity. The study sample comprised CT scans of 297 (146 females; 151 males) Japanese and 330 (145 females; 185 males) Western Australian adult individuals. A total of 10 measurements were acquired in two-dimensional CT images of the left and right femora; two machine learning methods (random forest modeling [RFM]) and support vector machine [SVM]) were then applied for population affinity classification. The accuracy of the two-way (sex-specific and sex-mixed) model was between 71.38 and 82.07% and 76.09-86.09% for RFM and SVM, respectively. Sex-specific (female and male) models were slightly more accurate compared to the sex-mixed models; there were no considerable differences in the correct classification rates between the female- and male-specific models. All the classification accuracies were higher in the Western Australian population, except for the male model using SVM. The four-way sex and population affinity model had an overall classification accuracy of 74.96% and 79.11% for RFM and SVM, respectively. The Western Australian females had the lowest correct classification rate followed by the Japanese males. Our data indicate that femoral measurements may be particularly useful for classification of Japanese and Western Australian individuals.


Asunto(s)
Fémur , Antropología Forense , Tomografía Computarizada por Rayos X , Humanos , Femenino , Masculino , Fémur/diagnóstico por imagen , Fémur/anatomía & histología , Japón , Antropología Forense/métodos , Adulto , Persona de Mediana Edad , Máquina de Vectores de Soporte , Anciano , Australia Occidental , Pueblo Asiatico , Aprendizaje Automático , Anciano de 80 o más Años , Pueblos del Este de Asia
3.
Ther Clin Risk Manag ; 19: 1005-1018, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38050617

RESUMEN

Purpose: Thiopurine S-methyltransferase (TPMT) is an enzyme that metabolizes purine analogs, agents used in the treatment of acute lymphoblastic leukemia. Improper drug metabolism leads to toxicity in chemotherapy patients and reduces treatment effectiveness. TPMT variants associated with reduced enzymatic activity vary across populations. Therefore, studying these variants in heterogeneous populations, such as Ecuadorians, can help identify molecular causes of deficiency for this enzyme. Methods: We sequenced the entire TPMT coding region in 550 Ecuadorian individuals from Afro-Ecuadorian, Indigenous, Mestizo, and Montubio ethnicities. Moreover, we conducted an ancestry analysis using 46 informative ancestry markers. Results: We identified 8 single nucleotide variants in the coding region of TPMT. The most prevalent alleles were TPMT*3A, TPMT*3B, and TPMT*3C, with frequencies of 0.055, 0.012, and 0.015, respectively. Additionally, we found rare alleles TPMT*4 and TPMT*8 with frequencies of 0.005 and 0.003. Correlating the ancestry proportions with TPMT-deficient genotypes, we observed that the Native American ancestry proportion influenced the distribution of the TPMT*1/TPMT*3A genotype (OR = 5.977, p = 0.002), while the contribution of African ancestral populations was associated with the TPMT*1/TPMT*3C genotype (OR = 9.769, p = 0.003). The rates of TPMT-deficient genotypes observed in Mestizo (f = 0.121) and Indigenous (f = 0.273) groups provide evidence for the influence of Native American ancestry and the prevalence of the TPMT*3A allele. In contrast, although Afro-Ecuadorian groups demonstrate similar deficiency rates (f = 0.160), the genetic factors involved are associated with contributions from African ancestral populations, specifically the prevalent TPMT*3C allele. Conclusion: The distribution of TPMT-deficient variants offers valuable insights into the populations under study, underscoring the necessity for genetic screening strategies to prevent thiopurine toxicity events among Latin American minority groups.

4.
Genes (Basel) ; 14(7)2023 07 22.
Artículo en Inglés | MEDLINE | ID: mdl-37510400

RESUMEN

Accurate inference of genetic ancestry is crucial for population-based association studies, accounting for population heterogeneity and structure. This study analyzes genome-wide SNP data from the Netherlands Twin Register to compare genetic ancestry estimates. The focus is on the comparison of ancestry estimates between family members and individuals genotyped on multiple arrays (Affymetrix 6.0, Affymetrix Axiom, and Illumina GSA). Two conventional methods, principal component analysis and ADMIXTURE, were implemented to estimate ancestry, each serving its specific purpose, rather than for direct comparison. The results reveal that as the degree of genetic relatedness decreases, the Euclidean distances of genetic ancestry estimates between family members significantly increase (empirical p < 0.001), regardless of the estimation method and genotyping array. Ancestry estimates among individuals genotyped on multiple arrays also show statistically significant differences (empirical p < 0.001). Additionally, this study investigates the relationship between the ancestry estimates of non-identical twin offspring with ancestrally diverse parents and those with ancestrally similar parents. The results indicate a statistically significant weak correlation between the variation in ancestry estimates among offspring and differences in ancestry estimates among parents (Spearman's rho: 0.07, p = 0.005). This study highlights the utility of current methods in inferring genetic ancestry, emphasizing the importance of reference population composition in determining ancestry estimates.


Asunto(s)
Etnicidad , Genética de Población , Humanos , Genotipo , Grupos de Población , Países Bajos
5.
J Forensic Sci ; 68(1): 242-251, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36380482

RESUMEN

Human remains from forensic and bioarcheological contexts are often fragmentary, requiring methods for estimating a forensic profile that are based upon limited skeletal features. In 2017, Berg and Keryhercz created an online application, (hu)MANid, that provides sex and ancestry estimation from mandibular morphoscopic traits and linear measurements. In this study, we examine the utility of the (hu)MANid application in a diverse, urban US adult sample (aged 20-45; n = 143) derived from computed tomography (CT) scans. We secondarily conduct a preliminary analysis of the program's utility in a sample of adolescents (aged 15-17; n = 40). Six morphoscopic, and eleven morphometric traits were recorded as directed by the literature associated with the (hu)MANid program. Percent correct classification and posterior predictive values were calculated for the sex and ancestry estimations output by the program; chi-squared tests were employed to compare self-reported and predicted ancestry. In the adult sample, sex was accurately predicted for 75.52% of the sample. Ancestry prediction, however, was less favorable ranging from 19.3% to 50% correct. For the adolescent sample, correct sex estimation (45%) did not surpass what could occur by chance alone, though ancestry prediction fared better than in the larger adult sample (percent correct prediction overall average: 47.5%, range 35.71%-71.43%). The (hu)MANid application shows utility for use with CT scan-derived adult samples for sex estimation, but caution is warranted for ancestry estimation and use with samples that may not have reached full adult maturity.


Asunto(s)
Antropología Forense , Determinación del Sexo por el Esqueleto , Adulto , Adolescente , Humanos , Antropología Forense/métodos , Mandíbula/anatomía & histología , Tomografía Computarizada por Rayos X , Medicina Legal , Determinación del Sexo por el Esqueleto/métodos
6.
Forensic Sci Res ; 8(3): 202-210, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38221968

RESUMEN

The objective of this study is to analyze the accuracy and applicability of the AncesTrees software with respect to a set of cranial measurements of a Brazilian sample consisting of 114 identified skulls from two osteological collections, predominantly composed of European (n = 59), African (n = 35), and admixed individuals (n = 20). Twenty-four different craniometric measurements are performed and input to AncesTrees via two algorithms, one of which is used in three configurations, with different ancestral groups integrated in the model. The software exhibits superior performance in the estimation of European individuals, reaching 73% accuracy, compared with 66% in the African individuals. Those individuals classified as admixed produce a variety of ancestral classifications, mainly European. Overall, the most accurate combination of AncesTrees is obtained using ancestralForest with only the European and African groups integrated into the algorithm, where the accuracy reaches 70%. The applicability of this software to a specific population is fragile because of the high admixing load, making it necessary to create a more representative anthropometric database of the Brazilian people. Key points: Ancestry estimation methods are seldom validated in Brazil.AncesTrees performed poorly on our sample, with a maximum accuracy of 70%.Brazil's highly mixed population hinders ancestry estimation.Mixed individuals (pardos) are predominantly classified as Europeans.The insertion of Brazilian metric data into the AncesTrees database would produce better results.

7.
Forensic Sci Res ; 7(3): 440-455, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36353330

RESUMEN

Identification of unknown remains recovered from marine and terrestrial locations is a significant humanitarian problem. This investigation proposes a simple method applicable to fragmentary femora for a more refined level of ancestry and/or sex estimation. To that end, we re-examined Purkait's triangle which involves three inter-landmark distances between the traction epiphyses and the articular rim of femoral head. A large sample (n = 584) from geographically diverse (Egyptian, Indian and Greek) populations was compiled. Additionally, shape (n = 3) and trigonometrically derived variables and ratios (n = 9 variables) were employed to detect any geographically-clustered morphological differences between these populations. Random forest modelling (RFM) and linear discriminant function analysis (LDA) were employed to create classification models in instances where sex was known or unknown. The sample was apportioned into training and test sets with a ratio 70/30. The classification accuracies were evaluated by means of k fold cross-validation procedure. In sex estimation, RFM showed similar performance to LDA. However, RFM outperformed LDA in ancestry estimation. Ancestry estimation was satisfactory in the Indian and Egyptian samples albeit the Greek sample was problematic. The Greek samples presented greater morphological overlap with the Indian sample due to high within-group variation. Test samples were accurately assigned to their ancestral category when sex was known. Generally, higher classification accuracies in the validation sample were obtained in the sex-specific model of females than in males. Using RFM and the linear variables, the overall accuracy reached 83% which is distributed as 95%, 71% and 86% for the Egyptian, Indian and Greek females, respectively; whereas in males, the overall accuracy is 72% and is distributed as 58%, 87% and 50% for the Egyptian, Indian and Greek males, respectively. Classification accuracies were also calculated per group in the test data using the 12 derived variables. For the females, the accuracies using the medians model was comparable to the linear model whereas in males the angles model outperformed the linear model for each group but with similar overall accuracy. The classification rates of male specific ancestry were 82%, 78% and 56% for the Egyptian, Indian and Greek males, respectively. In conclusion, Purkait's triangle has potential utility in ancestry and sex estimation albeit it is not possible to separate all groups successfully with the same efficiency. Intrapopulation variation may impact the accuracy of assigned group membership in forensic contexts. Key pointsPurkait's method is a possible ancestry group indicator applicable to fragmentary femora.Random forest model surpassed linear discriminant function analysis in multi-group ancestry classification.Ancestry is more accurately assessed in females than males.The intertrochanteric distance is the most important feature in discrimination of sex whereas in ancestry it was the head to lesser trochanter distance.Sex differences override ancestry due to the tendency of misclassification into same sex but different group rather than the opposite sex of the same ancestry.

8.
Forensic Sci Int ; 337: 111375, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35839682

RESUMEN

The use of cranial analysis, through metric and/or morphological data, remains a popular method within biological anthropology and its subfields to allow for the analysis of an individual. These methods increasingly use multivariate statistics to empirically measure the degree of similarities between individuals and populations. CRANID is a piece of freeware which allows the user to estimate ancestry from 29 cranial measurements. This paper utilised a previously published dataset (Lee and Gerdau 2020 [29]) of cranial measurements to simulate multiple users estimating the ancestry for a single cranium of known origin. Only 32-68 % of the generated ancestry estimations were found to match the broad geographic region of the tested cranium depending on the statistical test. This paper also highlights aspects of CRANID's results that may make it harder for users to understand the results the program provides.


Asunto(s)
Antropología Forense , Cráneo , Cefalometría/métodos , Antropología Forense/métodos , Humanos , Variaciones Dependientes del Observador , Cráneo/anatomía & histología , Programas Informáticos
9.
Leg Med (Tokyo) ; 55: 102027, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35121352

RESUMEN

The lingula is a small bony projection emerging from the medial ridge of the mandibular foramen, subjected to morphological variations. To date, scientific literature has described four different shapes (truncated, triangular, nodular and assimilated) and the relative distributions in different human populations. However, no data are available on Europeans so far. To this purpose, the present study aims to evaluate the distribution of the lingula shapes in the Italian population and to verify its relevance in ancestry estimation. Lingula was analysed in 235 dry mandibles selected among contemporary Italian cemeterial skeletons. Since only well-preserved sides were considered, 453 sides were evaluated according to a classification method, which includes the description of a fifth shape (the bridge shape) and the presence of mixed morphologies. In our sample, the most prevalent shape was the truncated shape (38.6%), followed by the nodular (26.3%), mixed morphologies (15.2%), triangular (10.8%), bridge (5.1%) and assimilated (4.0%) shapes. Within mixed morphologies, the most prevalent were the nodular/truncated (31.9%), nodular/triangular (30.4%), and nodular/assimilated (23.2%). Differently to previous studies, the lingula morphology could not actually offer a concrete and reliable help to ancestry estimation. However, its shape and extension would assume a stronger clinical influence for the execution and success of the alveolar nerve block used in dental and maxillofacial surgery procedures.


Asunto(s)
Medicina Legal , Mandíbula , Humanos
10.
Int J Legal Med ; 135(6): 2221-2233, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34436656

RESUMEN

The Illumina® MiSeq FGx™, in conjunction with the ForenSeq™ DNA Signature Prep kit, produces genotypes of the CODIS-required short tandem repeats and provides phenotype and biogeographical ancestry estimations via phenotype-informative and ancestry-informative markers, respectively. Although both markers have been validated for use in forensic biology, there is little data to determine the practical utility of these estimations to assist in identifying missing persons using decedent casework samples. The accuracy and utility of phenotypic and ancestral estimations were investigated for 300 samples received by the Los Angeles County Department of Medical Examiner-Coroner. piSNP genotypes were translated into hair and eye colors using the Forenseq™ Universal Analysis Software (UAS) on the MiSeq FGx™ and the HIrisPlex System, and statistical accuracy was evaluated in context with the reported decedent characteristics. Similarly, estimates of each decedent's biogeographical ancestry were compared to assess the efficacy of these markers to predict ancestry correctly. The average UAS and the HIrisPlex system prediction accuracy for brown and blue eyes were 95.3% and 96.2%, respectively. Intermediate eye color could not be predicted with high accuracy using either system. Other than the black hair phenotype reporting an accuracy that exceeded 90% using either system, hair color was also too variable to be predicted with high accuracy. The FROG-kb database distinguishes decedents adequately beyond the Asian, African, European, and Admixed American global ancestries provided by the MiSeq FGx™ UAS PCA plots. FROG-kb correctly identified Middle Eastern, Pacific Islander, Latin American, or Jewish ancestries with accuracies of 70.0%, 81.8%, 73.8%, and 86.7%, respectively.


Asunto(s)
Dermatoglifia del ADN , Color del Ojo , Color del Ojo/genética , Genotipo , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Fenotipo , Polimorfismo de Nucleótido Simple , Reproducibilidad de los Resultados
11.
R Soc Open Sci ; 8(5): 202106, 2021 May 05.
Artículo en Inglés | MEDLINE | ID: mdl-34035946

RESUMEN

The great Tudor warship, the Mary Rose, which sank tragically in the Solent in 1545 AD, presents a rare archaeological opportunity to research individuals for whom the precise timing and nature of death are known. A long-standing question surrounds the composition of the Tudor navy and whether the crew were largely British or had more diverse origins. This study takes a multi-isotope approach, combining strontium (87Sr/86Sr), oxygen (δ18O), sulfur (δ34S), carbon (δ13C) and nitrogen (δ15N) isotope analysis of dental samples to reconstruct the childhood diet and origins of eight of the Mary Rose crew. Forensic ancestry estimation was also employed on a subsample. Provenancing isotope data tentatively suggests as many as three of the crew may have originated from warmer, more southerly climates than Britain. Five have isotope values indicative of childhoods spent in western Britain, one of which had cranial morphology suggestive of African ancestry. The general trend of relatively high δ15N and low δ13C values suggests a broadly comparable diet to contemporaneous British and European communities. This multi-isotope approach and the nature of the archaeological context has allowed the reconstruction of the biographies of eight Tudor individuals to a higher resolution than is usually possible.

12.
Am J Phys Anthropol ; 175(2): 422-436, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33460459

RESUMEN

Since the professionalization of US-based forensic anthropology in the 1970s, ancestry estimation has been included as a standard part of the biological profile, because practitioners have assumed it necessary to achieve identifications in medicolegal contexts. Simultaneously, forensic anthropologists have not fully considered the racist context of the criminal justice system in the United States related to the treatment of Black, Indigenous, and People of Color; nor have we considered that ancestry estimation might actually hinder identification efforts because of entrenched racial biases. Despite ongoing criticisms from mainstream biological anthropology that ancestry estimation perpetuates race science, forensic anthropologists have continued the practice. Recent years have seen the prolific development of retooled typological approaches with 21st century statistical prowess to include methods for estimating ancestry from cranial morphoscopic traits, despite no evidence that these traits reflect microevolutionary processes or are suitable genetic proxies for population structure; and such approaches have failed to critically evaluate the societal consequences for perpetuating the biological race concept. Around the country, these methods are enculturated in every aspect of the discipline ranging from university classrooms, to the board-certification examination marking the culmination of training, to standard operating procedures adopted by forensic anthropology laboratories. Here, we use critical race theory to interrogate the approaches utilized to estimate ancestry to include a critique of the continued use of morphoscopic traits, and we assert that the practice of ancestry estimation contributes to white supremacy. Based on the lack of scientific support that these traits reflect evolutionary history, and the inability to disentangle skeletal-based ancestry estimates from supporting the biological validity of race, we urge all forensic anthropologists to abolish the practice of ancestry estimation.


Asunto(s)
Cefalometría , Antropología Forense , Racismo , Negro o Afroamericano/estadística & datos numéricos , Femenino , Humanos , Masculino , Odontometría , Cráneo/anatomía & histología , Diente/anatomía & histología , Estados Unidos/etnología , Población Blanca/estadística & datos numéricos
13.
J Forensic Sci ; 66(1): 11-24, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33104274

RESUMEN

Recent discussions have revolved around the concept of ancestry and ancestry estimation; however, the associated terminology and its theoretical underpinnings have not been similarly examined. This research evaluates the concepts (e.g., race, ancestry, ethnicity) currently in use, examines if they are consistent with the groups employed to illustrate them (e.g., Black, European, Hispanic), and looks for patterns in language usage. Articles in the Anthropology, Odontology, and General sections of the Journal of Forensic Sciences between 2009 and 2019 were evaluated for ancestry-related language use. For each article, the concepts, examples, and bibliographic information were recorded, and the relationship between concept and example was examined. These data were cross-tabulated to evaluate relationships between the variables. Cramer's V was used to assess the strength of association of these relationships. In this sample, ancestry predominates, especially recently The concept used is significantly associated with all variables except publication date and authors' institution(s). Despite the prevalence of the ancestry concept, racially based terms for individual groups were common. The use of ancestry, over race, in forensic contexts has been suggested to be a primarily linguistic change; these results may support that assertion. Inconsistent language usage leads to a lack of clarity in meaning among researchers and misinterpretation of the data. It is critical to recognize that inconsistencies exist, but also to understand why they exist. These results underscore the long overdue need for the inclusion of diverse perspectives in forensic anthropology, especially in the current conversations surrounding ancestry and ancestry estimation.


Asunto(s)
Etnicidad , Grupos Raciales , Terminología como Asunto , Antropología , Ciencias Forenses , Humanos
14.
Am J Phys Anthropol ; 173(3): 589-605, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-33245566

RESUMEN

OBJECTIVES: Secular change in cranial and postcranial morphometrics and morphological traits has been documented in several studies. However, to date, few studies have addressed temporal changes occurring in the expression of cranial morphological traits commonly used in ancestry estimation. This study examines secular change in the expression of 23 cranial and mandibular morphological traits; accounting for age-at-death, sex, and year-of-birth. MATERIALS & METHODS: Data were collected on 23 morphological cranial and mandibular traits for European American individuals (19-97 years of age) from the Hamann-Todd Skeletal Collection (n = 518) and the William M. Bass Donated Skeletal Collection (n = 602). Individuals were divided into six birth-year cohorts: 1824-1849 (Cohort 1), 1850-1874 (Cohort 2), 1875-1899 (Cohort 3), 1900-1924 (Cohort 4), 1925-1949 (Cohort 5), and 1950-1987 (Cohort 6). RESULTS: Statistical analyses, including Pearson's chi-square, correspondence analysis, and ordinal regression, demonstrate that secular changes have occurred in 11 traits, including: anterior nasal spine (ANS); malar tubercle (MT); nasal bone contour (NBC); postbregmatic depression (PBD); supranasal suture (SPS); transverse palatine suture (TPS); zygomaticomaxillary suture (ZS); ascending ramus shape (ARS); gonial angle flare (GAF); mandibular tori (MDT); and posterior ramus edge inversion (PREI), with changes occurring in both sexes for ANS, MT, TPS, ZS, GAF, MDT, and PREI. Significant changes in trait expression were found predominately between Cohorts 3 and 4, and Cohorts 4 and 5. While the sex of an individual affected the expression of ANS, MT, NBC, PBD, SPS, ZS, ARS, GAF, and PREI, age-at-death only affected MT and PREI. DISCUSSION: This study demonstrates that secular change in morphological cranial and mandibular traits has occurred over the last two centuries in European Americans, with the most considerable change appearing at the turn of the twentieth century. Changes in morphological trait expression over a relatively short period of time correspond with changes seen in craniometric analyses and correlate with the industrialization of society and environmental and cultural changes, such as medical advancements, nutrition, and population health/stress.


Asunto(s)
Mandíbula/anatomía & histología , Cráneo/anatomía & histología , Población Blanca/estadística & datos numéricos , Adulto , Anciano , Anciano de 80 o más Años , Antropología Física , Cefalometría , Femenino , Historia del Siglo XIX , Historia del Siglo XX , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
15.
Forensic Sci Res ; 5(2): 89-97, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32939424

RESUMEN

Ancestry assessment represents a major component of forensic anthropological analysis of recovered human remains. Interpretations of ancestry, together with other aspects of the biological profile, can help narrow the search of missing persons and contribute to eventual positive identification. Such information can prove useful to authorities involved in the identification and investigative process since many lists of missing persons have a reference to this parameter. Recent research has strengthened available methodologies involving metric, non-metric morphological as well as chemical and genetic approaches. This review addresses the new anthropological techniques that are now available, as well as the complex historical context related to ancestry evaluation.

16.
Leg Med (Tokyo) ; 47: 101771, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32795933

RESUMEN

The classification performance of the statistical methods binary logistic regression (BLR), multinomial and penalized multinomial logistic regression (MLR, pMLR), linear discriminant analysis (LDA), and the machine learning algorithms naïve Bayes classification (NBC), decision trees (DT), random forest (RF), artificial neural networks (ANN), support vector machines (linear, polynomial or radial) (SVM), multivariate adaptive regression splines (MARS), and extreme gradient boosting (XGB) is examined in skeletal sex/ancestry estimation. The datasets used to test the performance of these methods were obtained from a documented human skeletal collection, Athens Collection, and the Howells Craniometric data set. For their implementation, an R package has been written to search for the optimum tuning parameters under cross-validation and perform sex/ancestry classification. It was found that the classification performance may vary significantly depending on the problem. From the methods tested, LDA and the machine learning technique of linear SVM exhibit the best performance, with high prediction accuracy and relatively low bias in most of the tests. ANN and pMLR can generally be considered to give satisfactory predictions, whereas NBC when using metric traits and DT are the worst of the classification methods examined. The possibility of making the models developed via the machine learning algorithms applicable to other assemblages without the use of a training sample is also discussed.


Asunto(s)
Algoritmos , Aprendizaje Automático , Grupos Raciales/clasificación , Restos Mortales , Análisis Discriminante , Femenino , Antropología Forense/métodos , Humanos , Masculino , Pelvis , Determinación del Sexo por el Esqueleto/métodos , Cráneo , Máquina de Vectores de Soporte
17.
Forensic Sci Int Genet ; 48: 102344, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32615397

RESUMEN

DNA intelligence, and particularly the inference of biogeographical ancestry (BGA) is increasing in interest, and relevance within the forensic genetics community. The majority of current MPS-based forensic ancestry-informative assays focus on the differentiation of major global populations. The recently published MAPlex (Multiplex for the Asia Pacific) panel contains 144 SNPs and 20 microhaplotypes and aims to improve the differentiation of populations in the Asia Pacific region. This study reports the first forensic evaluation of the MAPlex panel using AmpliSeq technology and Ion S5 sequencing. This study reports on the overall performance of MAPlex including the assay's sequence coverage distribution and stability, baseline noise and description of problematic SNPs. Dilution series, artificially degraded and mixed DNA samples were also analysed to evaluate the sensitivity of the panel with challenging or compromised forensic samples. As the first panel to combine biallelic SNPs, multiple-allele SNPs and microhaplotypes, the MAPlex assay demonstrated an enhanced capacity for mixture detection, not easily performed with common binary SNPs. This performance evaluation indicates that MAPlex is a robust, stable and highly sensitive assay that is applicable to forensic casework for the prediction of BGA.


Asunto(s)
Pueblo Asiatico/genética , Genética de Población , Secuenciación de Nucleótidos de Alto Rendimiento , Frecuencia de los Genes , Genotipo , Haplotipos , Humanos , Reacción en Cadena de la Polimerasa , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN
18.
Am J Phys Anthropol ; 172(3): 386-401, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-31943139

RESUMEN

OBJECTIVES: Probit has not been applied to ancestry estimation in forensic anthropology. The goals of this study were to: (1) evaluate the performance of probit analysis as a classification tool for ancestry estimation using ordinal data and (2) expand our current understanding of human cranial variation for an understudied population. METHODS: Multivariate probit models were used to classify the ancestral affiliation of Filipino crania using morphoscopic traits. Ancestral reference populations represented Africa, Asia, and Europe in a three-group model, with the addition of Hispanics in a four-group model. Posterior probabilities across these groups were interpreted as admixture proportions of an individual. Model performance was also evaluated for individuals with missing data. RESULTS: The overall correct classification rates for the three-group and four-group models were 72.1% and 68.6%, respectively. Filipinos classified as Asian 52.9% of the time using three ancestral reference groups and 48.6% using four groups. A large portion of Filipinos also classified as African. There were no significant differences in classification trends or accuracy rates between complete crania and crania with at least one missing variable. CONCLUSIONS: Multivariate probit models using morphoscopic traits perform well when populations are represented in both training and test samples. Probit can also accommodate individuals with missing data. Classifying Filipinos showed only moderate success. Filipinos are more phenotypically similar to Africans than the other Asian samples used here, but still affiliate most closely as Asian. Ancestry methods would benefit from including Filipinos as a reference sample given the additional variation they provide to the continental category of Asian.


Asunto(s)
Pueblo Asiatico/estadística & datos numéricos , Cráneo/anatomía & histología , Femenino , Antropología Forense , Humanos , Masculino , Modelos Estadísticos , Filipinas , Grupos Raciales/estadística & datos numéricos
19.
J Forensic Sci ; 65(3): 692-706, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-31693176

RESUMEN

Traditionally, precontact Native Americans and Asian groups have been conflated for aspects of the biological profile due to their distantly shared genetic history, although this grouping remains largely unexplored. This study examines craniomorphic variability to ascertain whether Asian groups can be differentiated from each other and from Asian-derived groups using more fine-tuned models. Cranial and mandibular data for 35 nonmetric traits were recorded on precontact Native Americans (n = 150) and modern Japanese (n = 150) and Thai (n = 150) individuals. Chi-square analyses indicate that all groups exhibit statistically significant differences in most traits. Additionally, cross-validated binary logistic regression equations resulted in correct classification rates in the range of 65.0-93.3% and demonstrate that sex does not contribute to statistical models. Therefore, numerous traits provide discriminatory resolution that detects differences between the samples, thus highlighting the potential utility of nonmetric traits in identifying individuals beyond the traditional African, European, and Asian forensic ancestry groupings.


Asunto(s)
Indio Americano o Nativo de Alaska , Pueblo Asiatico , Antropología Forense , Mandíbula/anatomía & histología , Cráneo/anatomía & histología , Femenino , Humanos , Japón/etnología , Modelos Logísticos , Masculino , Variaciones Dependientes del Observador , Sudoeste de Estados Unidos , Tailandia/etnología
20.
Forensic Sci Int ; 305: 110013, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31710881

RESUMEN

Ancestry estimation of skeletonized remains by forensic anthropologists is conducted through comparative means, and a lack of population-specific data results in possible misclassifications. This is especially germane to individuals of Latin American ancestry. Generally, each country in Latin America can trace their ancestral lineage through three main parental groups: Indigenous, European, and African. However, grouping all Latin American individuals under the broad "Hispanic" category ignores the specific genetic contributions from each parental group, which is variable and dependent on the population histories and sociocultural dynamics of each country. This study analyzes the craniometric ancestry of Hispaniola (the Dominican Republic and Haiti) using 190 cranial Computed Tomography (CT) scans (f=103; m=87), along with the island's history, to explore similarities and differences between the two groups. MANOVA results indicate that 53.6% and 71.4% of the 28 cranial measurements differ between the ancestries and sexes, respectively; and intraobserver error analyses demonstrate that 85.7% of measurements from CT scans are good-excellent in reliability. Further, a total of 12 canonical discriminant function analyses produced cross-validated classification accuracies of 73.7-78.6% for females, 71.8-87.5% for males, and 72.0-77.8% for pooled sex. This study demonstrates that, despite sharing a small island, Dominican and Haitian individuals can be differentiated with a fair amount of statistical certainty, which is possible due to complex socio-cultural, -political, and -demographic factors that have produced and maintained genetic heterogeneity. Moreover, the discriminant functions provided here can be used by the international forensic science community to identify individuals living on Hispaniola.


Asunto(s)
Cefalometría , Cráneo/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Adulto , Anciano , Anciano de 80 o más Años , Análisis Discriminante , República Dominicana , Femenino , Antropología Forense , Haití , Humanos , Imagenología Tridimensional , Masculino , Persona de Mediana Edad , Análisis Multivariante , Variaciones Dependientes del Observador , Adulto Joven
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