Human Variation

Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals. This integrated data set of common and rare alleles, called 'HapMap 3', includes both SNPs and copy number polymorphisms (CNPs). We characterized population-specific differences among low-frequency variants, measured the improvement in imputation accuracy afforded by the larger reference panel, especially in imputing SNPs with a minor allele frequency of #5%, and demonstrated the feasibility of imputing newly discovered CNPs and SNPs. This expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.

Extensive research in human genetics on presumably neutral loci has shown that the overwhelming majority of human diversity is found among individuals within local populations. Previous apportionments of craniometric diversity are similar to these genetic apportionments, implying that interregionally differing selection pressures have played a limited role in producing contemporary human cranial diversity. Here we show that when cranial variation is independently partitioned using principal components analysis of Mosimann shape variables, some estimates of interregional craniometric differentiation are larger than those for most genetic loci. These estimates are similar to estimates for genetic loci where interregionally differing selection pressures are implicated in producing the observed patterns of variation within and among regions. These results suggest that differences among regions in at least some cranial features, particularly in the nasal region, are in part the product of interregionally differing selection pressures. Moreover, these results have implications for assessing the biological affinities of prehistoric samples that are temporally separated from contemporary human reference populations. Am

The craniofacial skeleton carries out diverse functions served by hierarchically integrated developmental and functional modules. The craniofacial biologist is interested in how the skeleton of the cranium evolves and develops to integrate these functions while the clinician is more concerned with how function and development is altered in disease. The study of pathology is informative with respect to the control of development as is the study of normal variability. Particularly interesting are the paranasal sinuses which show marked variation within humans, in the human fossil record and among our close relatives. Their variations in humans are important clinically because they can be associated with increased susceptibility to disease and render sinus surgery more difficult. The extent and nature of variation within and between cranial structures is also informative with respect to normal developmental regulation since this can inform us about how their development is regulated. To fully understand the reasons we possess paranasal sinuses and why they vary it is necessary to relate their development to the temporally and spatially integrated development of the face from modules. Recent advances in morphometrics and mechanical modelling of the developing face have opened up new avenues of investigation likely to lead to such an understanding. They have the potential to test mechanical and spatial hypotheses of sinus ontogeny and so are likely to lead to new insights into craniofacial biology of importance to both evolutionary biologist and clinician.Es esqueleto facial cumple una serie de funciones distintas que se llevan a cabo a través de módulos tanto funcionales como módulos del desarrollo todos ellos organizados jerárquicamente. Mientras que el biólogo craneofacial está interesado en conocer la evolución y la ontogenia de la integración de esto módulos en el esqueleto craneofacial, el clínico se interesa mas por como la función y el desarrollo están alterados por enfermedad. El estudio de las patologías y el de la variación normal son interesantes en cuanto a los mecanismos de control ontogénico. Los senos paranasales que demuestran una variación marcada en humanos modernos, homínidos fósiles y nuestros parientes evolutivos más cercanos, los simios, son especialmente interesantes. La variación de los senos paranasales en humanos tiene elevada importancia clínica porque se asocia con una susceptibilidad elevada a infectarse y porque aumenta la dificultad de intervención cirujana. El grado y la naturaleza de esta variación entre determinadas módulos craneofaciales y dentro de aquellos contienen también información sobre la regulación ontogénica normal. Para un conocimiento completo de los motivos de la formación de los senos paranasales y su variación es necesario relacionar su desarrollo con las propiedades de la integración espacio-temporal de los componentes craneofaciales a lo largo de la ontogenia. Avances recientes en morfometría y en la modelización mecánica de la cara durante su ontogenia han abierto nuevas perspectivas para la investigación. Estas metodologías permiten testar hipótesis espaciales y funcionales de la ontogenia de los senos. Asimismo, contienen el potencial de incrementar nuestro conocimiento sobre la biología craneofacial, algo tan importante para el biólogo evolutivo como para el clínico.

Evolutionary investigations of human crania typically take a limited view of cranial diversity as they discount the possibility that human cranial variation could simply be due to the effects of random genetic drift, gene flow and mutation in favor of natural selection and developmental changes. Natural selection alone cannot explain similarities between patterns of cranial and molecular diversity observed in humans. It appears that the amount of phenotypic variance in the human cranium decreases at the population level as a function of distance from Sub-Saharan Africa much in the same way as observed for human molecular data.

Numerous lines of evidence suggest that Homo sapiens evolved as a distinct species in Africa by 150,000 years before the present (BP) and began major migrations out-of-Africa $50,000 BP. By 20,000 BP, our species had effectively colonized the entire Old World, and by 12,000 BP H. sapiens had a global distribution. We propose that this rapid migration into new habitats selected for individuals with low reactivity to novel stressors. Certain dopamine receptor D4 (DRD4) polymorphisms are associated with low neuronal reactivity and increased exploratory behavior, novelty seeking, and risk taking, collectively considered novelty-seeking trait (NS). One previous report (Chen et al.: Evol Hum Behav 20 (1999) 309-324) demonstrated a correlation between migratory distance

We examined the affect of tissue depth variation on the reconstruction of facial form, through the application of the American method, utilizing published tissue depth measurements for emaciated, normal, and obese faces. In this preliminary study, three reconstructions were created on reproductions of the same skull for each set of tissue depth measurements. The resulting morphological variation was measured quantitatively using the anthropometric craniofacial variability index (CVI). This method employs 16 standard craniofacial anthropometric measurements and the results reflect ‘‘pattern variation’’ or facial harmony. We report no appreciable variation in the quantitative measure of the pattern facial form obtained from the three different sets of tissue depths. Facial similarity was assessed qualitatively utilizing surveys of photographs of the three reconstructions. Surveys indicated that subjects frequently perceived the reconstructions as representing different individuals. This disagreement indicates that size of the face may blind observers to similarities in facial form. This research is significant because it illustrates the confounding effect that normal human variation contributes in the successful recognition of individuals from a representational three-dimensional facial reconstruction. Research results suggest that successful identification could be increased if multiple reconstructions were created which reflect a wide range of possible outcomes for facial form. The creation of multiple facial images, from a single skull, will be facilitated as computerized versions of facial reconstruction are further developed and refined.

Collagen fiber orientation is one aspect of the microstructure of bone that influences its mechanical properties. While the spatial distribution of preferentially oriented collagen is hypothesized to reflect the effects of loading during the process of aging, its variability in a modern human sample is essentially unknown. In a large sample (n = 67) of autopsied adults, the variability of collagen fiber orientation in the mid-shaft femur was examined in relation to age and sex. Montaged images of entire 100 microm thick cross-sections were obtained using circularly polarized light microscopy (CPLM) under standardized illuminating conditions. An automated image-analyzing routine divided images into 48 segments according to anatomical position. Average gray values (varying with orientation) were quantified for each segment, and one-way ANOVA with Tukey HSD post hoc tests were applied to assess differences between segments. Collagen fiber orientation appeared to be nonrandomly distribu...

Recent analyses indicate that the precuneus is one of the main centres of integration in terms of functional and structural processes within the human brain. This neuroanatomical element is formed by different subregions, involved in visuo-spatial integration, memory and self-awareness. We analysed the midsagittal brain shape in a sample of adult humans (n = 90) to evidence the patterns of variability and geometrical organization of this area. Interestingly, the major brain covariance pattern within adult humans is strictly associated with the relative proportions of the precuneus. Its morphology displays a marked individual variation, both in terms of geometry (mostly in its longitudinal dimensions) and anatomy (patterns of convolution). No patent differences are evident between males and females, and the allometric effect of size is minimal. However, in terms of morphology, the precuneus does not represent an individual module, being influenced by different neighbouring structures. Taking into consideration the apparent involvement of the precuneus in higher-order human brain functions and evolution, its wide variation further stresses the important role of these deep parietal areas in modern neuroanatomical organization.

The contribution of pre-mRNA processing mechanisms to the regulation of immune responses remains poorly studied despite emerging examples of their role as regulators of immune defenses. We sought to investigate the role of mRNA processing in the cellular responses of human macrophages to live bacterial infections. Here, we used mRNA sequencing to quantify gene expression and isoform abundances in primary macrophages from 60 individuals, before and after infection with Listeria monocytogenes and Salmonella typhimurium. In response to both bacteria we identified thousands of genes that significantly change isoform usage in response to infection, characterized by an overall increase in isoform diversity after infection. In response to both bacteria, we found global shifts towards (i) the inclusion of cassette exons and (ii) shorter 3' UTRs, with near-universal shifts towards usage of more upstream polyadenylation sites. Using complementary data collected in non-human primates, we show that these features are evolutionarily conserved among primates. Following infection, we identify candidate RNA processing factors whose expression is associated with individual-specific variation in isoform abundance. Finally, by profiling microRNA levels, we show that 3' UTRs with reduced abundance after infection are significantly enriched for target sites for particular miRNAs. These results suggest that the pervasive usage of shorter 3' UTRs is a mechanism for particular genes to evade repression by immune-activated miRNAs. Collectively, our results suggest that dynamic

The new paradigms proposed for human health risk assessment stress the need for the use of human and human-derived cell lines, and this review summarizes the use of primary human hepatocytes and hepatocyte subcellular preparations for the investigation of the metabolism and metabolic interactions of environmental chemicals. This includes interactions based on inhibition, induction, and activation. The role of cytotoxicity is also considered. The use of hepatocytes and hepatocyte preparations provides especially important information for the investigation of human variation and is summarized. This area is, at present, relatively neglected but will in the future be essential for accurate assessment of human health risk. A detailed summary of an initial attempt to utilize microarray technology for the study of genomewide effects is included. C 2013 Wiley Periodicals, Inc.

ABSTRACT: Cleft lip and palate (CLP) is a craniofacial malformation affecting more than seven million people worldwide that results in
defects of the hard palate, teeth, maxilla, nasal spine and floor, and maxillodental asymmetry. CLP facial soft-tissue depth (FSTD) values
have never been published. The purpose of this research is to report CLP FSTD values and compare them to previously published FSTD
values for normal children. Thirty-eight FSTDs were measured on cone beam computed tomography images of CLP children (n = 86;
7–17 years). MANOVA and ANOVA tests determined whether cleft type, age, sex, and bone graft surgical status affect tissue depths. Both
cleft type (unilateral/bilateral) and age influence FSTDs. CLP FSTDs exhibit patterns of variation that differ from normal children, particularly
around the oronasal regions of the face. These differences should be taken into account when facial reconstructions of children with CLP are created.

Estimates of the amount of genetic differentiation in humans among major geographic regions (e.g., Eastern Asia vs. Europe) from quantitative-genetic analyses of cranial measurements closely match those from classical-and molecular-genetic markers. Typically, among-region differences account for 10% of the total variation. This correspondence is generally interpreted as evidence for the importance of neutral evolutionary processes (e.g., genetic drift) in generating among-region differences in human cranial form, but it was initially surprising because human cranial diversity was frequently assumed to show a strong signature of natural selection. Is the human degree of similarity of cranial and DNA-sequence estimates of among-region genetic differentiation unusual? How do comparisons with other taxa illuminate the evolutionary processes underlying cranial diversification? Chimpanzees provide a useful

There has been much debate about why humans throughout the world differ in facial form. Previous studies of human skull morphology found levels of among-population differentiation that were comparable to those of neutral genetic markers, suggesting that genetic drift (neutral processes) played an important role in influencing facial differentiation. However, variation in soft-tissue morphology has not been studied in detail. In this study, we analyzed high-resolution 3D images of soft-tissue facial form in four Eurasian populations: Han Chinese, Tibetans, Uyghur and Europeans. A novel method was used to establish a high-density alignment across all of the faces, allowing facial diversity to be examined at an unprecedented resolution. These data exhibit signatures of population structure and history. However, among-population differentiation was higher for soft-tissue facial form than for genome-wide genetic loci, and high-resolution analyses reveal that the nose, brow area and cheekbones exhibit particularly strong signals of differentiation (Q st estimates: 0.3e0.8) between Europeans and Han Chinese. Our results suggest that local adaptation and/or sexual selection have been important in shaping human soft-tissue facial morphology.

Establishing ancestry from a skeleton for forensic purposes has been shown to be difficult. The purpose of
this paper is to address the application of thirteen non-metric traits to estimate ancestry in three South
African groups, namely White, Black and ‘‘Coloured’’. In doing so, the frequency distribution of thirteen
non-metric traits among South Africans are presented; the relationship of these non-metric traits with
ancestry, sex, age at death are evaluated; and Kappa statistics are utilized to assess the inter and intrarater
reliability. Crania of 520 known individuals were obtained from four skeletal samples in South
Africa: the Pretoria Bone Collection, the Raymond A. Dart Collection, the Kirsten Collection and the
Student Bone Collection from the University of the Free State. Average age at death was 51, with an age
range between 18 and 90. Thirteen commonly used non-metric traits from the face and jaw were scored;
definition and illustrations were taken from Hefner [2], Bass [6] and Hauser and De Stephano [7].
Frequency distributions, ordinal regression and Cohen’s Kappa statistics were performed as a means to
assess population variation and repeatability. Frequency distributions were highly variable among South
Africans. Twelve of the 13 variables had a statistically significant relationship with ancestry. Sex
significantly affected only one variable, inter-orbital breadth, and age at death affected two (anterior
nasal spine and alveolar prognathism). The interaction of ancestry and sex independently affected three
variables (nasal bone contour, nasal breadth, and interorbital breadth). Seven traits had moderate to
excellent repeatability, while poor scoring consistency was noted for six variables. Difficulties in
repeating several of the trait scores may require either a need for refinement of the definitions, or these
character states may not adequately describe the observable morphology in the population. The
application of the traditional experience-based approach for estimating ancestry in forensic case work is
problematic.

One of several microstructural variables known to affect the mechanical properties of bone is the degree of mineralization of bone matrix. The aim of this study was to examine mineralization density, and its variability with age and sex, from a biomechanical perspective. Histological sections, prepared from mid-shaft femora obtained at autopsy from 40 individuals, were imaged using quantitative backscattered electron microscopy. Each cross-section montage was divided into 48 segments according to anatomical position. Mean grey-level values were quantified for each segment. One-way ANOVA with Tukey HSD post hoc tests were used to test for differences in mineralization between segments, age groups and sexes. Results showed a decrease in overall degree of mineralization density with adult age, but an increase in its coefficient of variation. Degree of mineralization was significantly lower in the periosteal third of the cortex, particularly in the antero-lateral aspect. This pattern was most prevalent amongst the youngest individuals in the sample. Whereas males between ages 45-64 years had a higher average degree of mineralization than females, the opposite was true of the older age group. Mineralization significantly decreased between middle and older age groups in males, but not in females. Despite limited consistencies in the ___location of high and low average mineralization bone through the cortex, the degree of interindividual variation, even within a single age and sex group, overwhelmed population level trends. The patterns of variability identified in this study are consistent with results of an analysis of collagen fibre orientation using the same sample material.

Population data on the hypervariable regions of the mitochondrial DNA (mtDNA) genome are used to convey the relative rarity of mtDNA profiles obtained from evidence samples and of profiles used to identify missing persons. In this study, mtDNA profiles of Spanish individuals (n = 312) were analyzed to describe haplogroup distributions and to determine relevant single nucleotide polymorphisms (SNPs) of those haplogroups. All nine common European haplogroups were observed in the sample, and these were divided into subgroups when possible. Haplogroup H was the most common haplogroup. The haplogroups U, J, T, and V were the next most frequent groups, each occurring at a frequency of 6.4% or greater. In addition, African and Asian sequences were present though rare in the samples. The data were compared with and found to be similar to other published data sets. There were 109 SNPs observed in the data set, including 10 positions not previously reported. The most variable sites are consistent with other studies.

Objectives: The majority of anthropological studies on dermatoglyphics examine the heritability and inter-population variation of Level 1 detail (e.g., pattern type, total ridge count), while forensic scientists concentrate on individual uniqueness of Level 2 and 3 detail (e.g., minutiae and pores, respectively) used for positive identification.

Past Human Behavior from Bone Chemical Analysis-Respects and Prospects Chemical analysis (stable isotopic ratios and elemental concentrations) of archeological populations allows us to trace the human diet system in prehistory. We can successfully follow the evolution of human diet and the consequences of dietary change on human health. To do this, the study of chemical composition must be integrated with analysis of the entire individual (bone physiology) and the analysis of society and environmental geochemistry. The advent of quantifiable data of known precision in prehistoric studies (chemistry, epidemiology) allows greater specificity but requires greater precision and rigor in our interpretations of past behavior. Before we can take full advantage of the new methodology, we must understand the nature of chemical variation in archeological populations. Variation between individuals and populations in chemical indices comes from differences in measurements, samples, age, sex, health, diet, burial, and laboratory preparation. However, dietary reconstructions as well as significant information on human biocultural adaptation can be derived from the multivariate studies.

Objectives: The midface of extant Homo sapiens is known to undergo shape changes through fetal and neo-natal ontogeny; however, little work has been done to quantify these shape changes. Further , while midfacial traits which vary in frequency between populations of extant humans are presumed to develop prenatally, patterns of population-specific variation maxillary shape across ontogeny are not well documented. Only one study of fetal ontogeny which included specific discussion of the midface has taken a three-dimensional geometric morphometric approach, and that study was limited to one population (Japanese). The present research project seeks to augment our understanding of fetal maxillary growth patterns, most especially in terms of intraspecific variation. Materials and Methods: Three-dimensional coordinate landmark data were collected on the right maxillae of 102 fetal and neo-natal individuals from three groups (Euro-American, African-American, " Mixed Ancestry "). Results: Shape changes were seen mainly in the lateral wall of the piriform aperture, the anterior nasal spine, and the subnasal alveolar region. The greatest difference across age groups (second trimester, third trimester, neonates) was between the second and third trimester. Euro-Americans and African-Americans clustered by population and differences in midfacial morphology related to ancestry could be discerned as early as the second trimester (p 5 .002), indicating that population variation in maxillary morphology appears very early in ontogeny. Discussion: The midface is a critical region of the skull for assessing ancestry and these results indicate that maxillary morphology may be useful for estimating ancestry for prenatal individuals as young as the second trimester.

"It is argued in this article that the human body both in health and disease cannot be fully understood without adequately accounting for the different levels of human variation.The article focuses on variation due to ancestry, arguing that the inclusion of information pertaining to ancestry in human anatomy teaching materials and courses should be carried out and implemented with care and in line with latest developments in biological
anthropology and related sciences. This seems to be of particular importance in the education of health professionals, as recent research suggests that better knowledge of human variation can improve clinical skills. It is also argued that relatively small curricular changes relating to the teaching of human variation can produce significant educational
gains."

Mitotic recombination (MR) between homologous chromosomes is a mutational event that results in loss of heterozygosity in half of the segregants at mitosis. Loss of heterozygosity may have important biological consequences. The purpose of this study was to describe human variation in the spontaneous frequency of MR. Using an immunoselection technique for isolating the somatic mutations that result in loss of expression of one of the codominant alleles at the HLA-A locus, we have measured the frequency and molecular basis of somatic mutations in lymphocytes from a population of young adults. Mutations were classified as being the result of intragenic changes, major deletions, or MR. Here we show that the MR mutation frequency in females was significantly greater than that in males but that intragenic mutation frequency showed no association with sex. Individual variation in MR frequency ranged over more than two orders of magnitude and was not normally distributed. Furthermore, the observed number of individuals from whom no mutants resulting from MR were obtained was significantly greater than was expected. The endogenous level of MR may be under genetic control. Given the association of loss of heterozygosity with cancer initiation and progression, low endogenous MR may confer a reduced lifetime risk of cancer, and the converse may apply.

The ratio of second-to-fourth digit length (2D:4D), which is generally higher in women compared with men, is a putative marker of prenatal testosterone (PT) exposure. Lower 2D:4D is linked with greater physical ability and strength, better sporting performance and a propensity towards jobs demanding greater physical ability. The objectives of this paper were to examine the sexual dimorphism in 2D:4D in both hands 1and compare this dimorphism in the students of military and civil courses at the General Kuściuszko Military Academy of Land Forces in Wrocław. The cross-sectional study compared 59 female and 118 male students from the military courses and 53 females and 64 male students from the civil courses. Besides calculating 2D:4D (2D/4D) for each hand, height and weight were also recorded. Physical fitness and endurance were assessed using Eurofit tests. Handgrip strength was measured using a standardized isometric dynamometer. In almost all physical tests, students in the military cohort showed highly significant greater physical ability and strength (e.g. handgrip strength) when compared with the civil cohort. Male participants had a significantly lower 2D:4D than females for each hand, as well as for the average value for both hands. The sexual dimorphism was, however, a little more pronounced in the right hand than in the left. Both sex and course type were significant predictors of 2D:4D. There were significant interactions between sex and the student type. Among females, but not in males, the military cohort had a significantly lower, i.e. more ‘masculine’, 2D:4D for the left hand and right hand and average for both hands (t=3.290, p<0.001) than the civil cohort. This was not the case in males. However, the sex difference in 2D:4D was only significant among the civil students, and not among the military cadets. In conclusion, higher PT exposure, as represented by a lower 2D:4D, among the Polish females might be an indicator of relatively increased physical ability and motivation to choose professions that require higher strength and endurance.

Human intraspecific variation is a complex problem, but may be better understood by using computational models in tandem with knowledge about the genetic bases of phenotypic traits. These results can be used in a multitude of settings. To move closer to this goal, biologically-realistic mappings between genotype and phenotype are constructed using genetic algorithm and neural network-like models. These models allow for gene-gene and gene-environment interactions to be characterized in the resulting phenotype. Two types of model are introduced: a simple, two-layer model, and a more complex model. The final section will focus on trends of growth and development in relation to relationship to modeling anthropometric traits and other morphological phenomena.

Cranial vault thickness (CVT) has been reported at many different osteometric landmarks and features on the vault. Historically, only a few landmarks are used, often bregma, lambda, vertex, and right and left euryon, and frequently comparisons are based only on "thick" versus "thin" to describe the vault overall. What is inherent in this strategy is the use of a few locations to characterize the entire vault. The problem remains that there is little information concerning CVT variation throughout an individual's vault, and the causes of variation within recent Homo sapiens important to investigating thickness variation between species in Homo. This work describes thickness variation over the entire superior vault and compares the sexes, age groups and populations in recent H. sapiens. A proportional grid is applied to the superior vault to measure thickness at 219 sampling points in a geographically diverse sample of recent H.

Abstract:  This paper presents data from a sample of 803 individuals (308 females and 495 males) from the Hamann-Todd collection testing Dwight’s century-old assertion that maximum height of the human scapula can be used for sex estimation—males being larger than 170 mm, females falling below 140 mm. The results of this project show Dwight’s method has high accuracy when scapular height falls either above or below the sex specific demarcation points (96.81%), but a vast majority of both males and females fall in between. The overall accuracy of the method is just 29.27%. By empirically demonstrating the limited usefulness of Dwight’s technique, the author hopes the rote republication of this method in introductory texts on the subject will cease, and draw attention to the need for multiple methods of sex estimation as a response to the overlap in both size and shape between males and females.

Against the background of the race debate and the principal elements of the current understanding of human intraspecific variation, we present the status of the race concept in Polish anthropology. Using questionnaires, we twice surveyed physical anthropologists about their agreement with the statement “There are biological races within the species Homo sapiens.” In the 1999 study, 62% of respondents disagreed with race (defined as subspecies) and 31% accepted it. In the 2001 study, this proportion was reversed: only 25% rejected race (by any definition) with the remaining respondents (75%) differing widely as to its accepted meaning. Each time, age was significant factor in differentiating the replies – in general, acceptance of race increased with age while rejection declined. It appears that Polish anthropologists regard race as a term without taxonomic value and often in a populational sense. Here we point out, however, the risks associated with the “metaphorical” use of the ter...

In this study, we investigated, for the first time from a forensic anthropological perspective, the question of mixed ancestry estimation for modern Filipinos with geographic origins in the Philippines. We derived estimates of continental ancestry using craniometrics from four sources: a new documented collection of current forensic significance from the Manila North Cemetery; the Howells cranial series representing a sample of unclaimed individuals from Manila but said largely to originate from more remote areas, with dates of death before 1940; the Hanihara sample aggregated from various locations and time periods across the Philippines; and the Hanihara series capturing various local indigenous, ethnic groups that are together identified as Philippine Negrito. Parental craniometrics were selected from the Howells data set and more recently collected samples from Europe and Asia. Using unsupervised clustering, we investigated the algorithmically defined three-cluster, or trihybrid admixture, model to infer continental ancestry for each individual, reporting their relative proportions of Asian, European, and African admixture. We used similar clustering procedures to identify more complex models, with a larger number of clusters, to explore patterns of affinity between our four Philippine samples and the recently acquired samples from Vietnam, Thailand, China (Hong Kong), Japan, and Korea. These analyses give insight into the relationships between both macro- and microgeographic regions, revealing at the country level how different population dynamics—whether political, economic, historical, and/or social—structure the ancestral makeup of Asian peoples, especially in the degree of European and African admixture. From these ancestry estimates, we found that population of origin explains 38–51% of the variation in each ancestry component, and we detected significant differences among the Asian samples in their quantities of ancestry. Filipinos appear considerably admixed, as they carry almost 20% less Asian ancestry than the average quantity (90%) estimated for the other Asian groups. We also revealed substructure within our representation of modern Filipinos, such that differences in the patterns of three-way admixture exist between each of the four Philippine samples; the Manila cemetery sample had the highest level of Asian ancestry, and, as we might expect, the Negrito sample had the greatest quantity of African ancestry. We performed additional analyses that introduced craniometrics from the Howells Australo-Melanesian series, to more fully investigate their relationship to the Asian samples and to better understand the African contributions common to the Philippine Negritos especially, as well as the other Southeast Asians and the Spanish and Portuguese groups. By mapping the cluster patterns on a global scale, these analyses reveal that, with craniometries just as with genetic loci, patterns of affinity are informative of the complex history of Southeast Asia, as they suggest vestiges of migration, trade, and colonialism, as well as more recent periods of isolation, marginalization, and occupation.

Background: Femoral sulcus angle is particularly important in clinical evaluation of patellofemoral joint. Individuals show considerable differences in asymmetrical dimensions of the femur. Objectives: To determine the size of femoral sulcus angles in adult black Malawians using the skeletal collection in the department of Anatomy, College of Medicine and assess their gender differences; to compare femoral sulcus angles of Malawians with other ethnic groups. Methods: A cross sectional study was done in which femoral sulcus angles of dry bones were measured using a goniometer. Results: There is no significant difference in the mean sulcus angles between right and left femora in males (p=0.8100) and females (p=0.0742); between all males combined and females combined (p=0.8845). There is a significant difference in the mean between all left femora combined and all right femora combined (p=0.0260). Conclusion: This study has provided the mean size of the femoral sulcus angle of adult Malawians. These findings suggest that the size of the sulcus angle cannot determine gender among adult black Malawians suggesting the interpretation that femora asymmetric dimensions are population specific, which should be considered in the patellofemoral joint evaluation.

Cranial and postcranial research on East and Southeast Asians has shown population variability between and within these two regions. Moreover, as populations vary by sex, sex differences vary by population. The purpose of this study is to provide the first descriptive and comparative analysis of two recently curated samples of complete, documented, contemporary skeletons from Thailand (N=104) and Hong Kong (N=94) that have not been previously studied. Sex differences reveal Hong Kong males and females as larger but less dimorphic than Thais. Stepwise discriminant function analysis of the Thai humerus and femur allowed 94%-96% sex classification accuracy. In conclusion, this research has increased our knowledge of sex and population differences in Asia and has important applications to demographic and medicolegal investigations.

Background
Sitting height (SH), sub ischial leg length (SILL) and the sitting height/leg length ratio (SH/SILL) are useful tools for assessing
human body proportions. They are often used to detect the presence of abnormal growth, especially in school-aged children.
Materials and Methods
Our cross-sectional study was conducted among 1012 preschool children aged 2 to 6-years from Integrated Child Development
Services (ICDS) scheme centers at Bali Gram Panchayat, Arambagh, Hooghly District, West Bengal, India. Anthropometric measurements
like height, weight, SH were measured following standard protocol.
Results
There was no age combined significant sex difference in any variable. However, age specific sex differences were there in few age
groups. Highly significant (p<0.001) age variations existed in all variables. The body mass index (BMI) was significantly (p<0.01)
negatively correlated with SILL (r=-0.443), SILLP (r=-0.302) and UTL (r=-0.346) in both sexes. It was significantly (p<0.01)
positively associated with UTLP (r=0.302). Moreover, SILL was significantly positively correlated with UTL in both sexes (boys,
r=0.821 and girls, r=0.871; p<0.01), whereas it was significantly negatively associated with UTLP (boys, r=-0.590 and girls, r=-
0.552; p<0.01) in the participants.
Conclusion
Our results suggest that, in both sexes, there were significant age differences in SILL, SILLP, upper trunk length (UTL) and unified
technology learning platform (UTLP). The BMI had significant associations with these variables in both sexes. Moreover, SILL
had significant correlation with UTL and UTLP among the participants.

Keywords

Sub ischial leg length;
BMI;
Upper trunk length;
Sub ischial leg length percentage;
Upper trunk length percentage.

Lip print pattern (LPP) is unique to each individual. For decades, forensic experts have used LPP for personal identification to solve criminal cases. However, studies investigating ethnic variation in LPP are scanty. Our study wanted to investigate variation in LPP between two ethnic groups, Oraon tribals and Bengalee Hindus, residing in West Bengal, India. A total of 280 participants included 112 Oraons and168 Bengalee Hindus of both. Prints were taken using dark shaded lipstick and transparent cellophane tape and recorded into white A4 sheet. Prints were divided into four quadrants and examined by magnifying glass. For analysis of results, classification of Suzuki and Tsuchihashi was followed. A p value of 0.05 was considered to be statistically significant. It was observed that Type II pattern was dominant in first and second quadrants in both ethnic groups, irrespective of sex. Combination of Type II+III was found to be the most common pattern in males among both Oraons (16.2%) and Bengalee Hindus (12.2%) whereas in females Type II pattern (25.0%) among Oraons and Type III pattern among Bengalee Hindus (11.4%) was the most common. Chi square test showed statistically significant difference among females (p<0.05) and in third and fourth quadrants among males (p<0.01) of both ethnic groups. Our investigation clearly demonstrated sex and ethnic variations in LPP. Further studies are required to investigate ethnic variation in LPP among the various populations groups, both tribal as well as non-tribal, from different regions of India.

Paleomigration into the Americas’ has mainly focused on using craniometric data from specimens from the USA or South America with very little focus on Central American countries. Also, research has normally concentrated on specimens from the late Pleistocene – early Holocene periods. This preliminary study revolves around a comparison of Central Mexican individuals dating between 10-12kya and a collection of human crania from the Coahuila region of NE Mexico dating between 1-2kya.
Craniometric data were sourced from peer-reviewed published articles and books. From this, 81 crania from the Candelaria Cave, Coahuila and five crania from Central Mexico were analyzed. To utilize the full data set (n=86), missing data were replaced by running a k Nearest-Neighbor (kNN) analysis which made it possible to compute a PCA.
The results from the PCA show that males and females cluster separately along PC1 and a clear divide between the two different samples can be seen along PC2. From the component matrix, we see that it is a mix of both the splanchnocranium and neurocranium that drive the variation between the sexes and between the two samples. Previously the skulls from La Candelaria Cave were considered to be very similar to the ones in Central Mexico, but this is not the case, adding information in terms of potential migration routes.
Further work is needed to help fully explore the cranial variation seen within prehistoric Mexico. Re-analysis of the Coahuila skulls will be undertaken to validate the original measurements that were published in the early 2000’s.

Shape analysis of the human orbital cavity is challenging due to several reasons. First, it is a smooth surface where only few anatomical landmarks can be identified. Second, data acquisition via CT-scanning is limited due to poor representation of the orbital walls caused by the so-called partial volume effect. The structure of the orbital walls can also lead to gray values differing from the rest of the bony tissue. Hence, automatic segmentations based on gray value thresholds will not include them in the segmentation and produce pseudoforamina in the segmented orbital walls.

In this study, a symmetric template mesh representing the orbital region was created. Forty-six landmarks were placed manually onto skull surfaces which were automatically segmented from CT-scans of 656 individuals of European (♀:n=164, ♂:n=164) and Chinese (♀:n=164, ♂:n=164) origin. A statistical model was computed on basis of the template mesh and semi-automatically matched onto the skull surfaces. This way, the defects in the representation of the orbital wall were interpolated. Next, 600 bilateral semi-landmarks, evenly distributed on the surface of the orbital cavity, were placed automatically on each individual. Procrustes analysis and principal component analysis were performed on these configurations. Shape variation depending on the factors sex and population affinity was analysed using the principal component (PC) scores of the PCs accounting for 98% of the total variance. The results indicate significant influence of population affinity and sex on orbital cavity shape with weak interaction between the two.

Rüdell, A. 2016. Shape variation of the human orbital cavity. In: Program of the 85th annual meeting of the American Association of Physical Anthropologists. American Journal of Physical Anthropology 159:277.