El material objecte d’estudi d’aquesta tesi són les restes antropològiques de set conjunts funeraris d’enterrament col·lectiu de finals del III mil·lenni fins a la primera meitat del I mil·lenni cal BC del Mediterrani occidental: Can Filuà, Can Ballarà, Mas Vilalba, Cova de Montanissell, Cova des Pas, Balma Solans de Recots i La Cantorella. Tres d’ells corresponen a enterraments en cova o balma, mentre que els altres corresponen a estructures subterrànies, ja siguin en fossa simple –sovint definida com a sitja reutilitzada- o complexa (fossa-hipogeu). El registre antropològic correspon en total a un nombre mínim de 169 individus, 77 procedents de coves, i 92 procedents de fosses, que van viure i morir fa entre 4000 i 3000 anys. La tesi està formada per 13 articles que intenten entendre i explicar perquè les restes esquelètiques es troben de la manera que es troben en el moment de la seva exhumació. La posició que presenten les restes humanes in-situ, prèvies a l’aixecament, sovint no és la mateixa en que les van deixar els seus contemporanis. Tampoc l’aspecte extern que presenten els ossos no és igual. A part de saber qui eren, quants eren, o com eren aquests protagonistes, la Tesi s’ha volgut centrar en què els va passar des que algú els va enterrar, i de quina manera es pot fer aquesta aproximació. La reconstrucció de les pràctiques mortuòries i l’estudi dels enterraments col·lectius no és una tasca gens fàcil; sovint el registre antropològic resulta ambigu, no només per la complexitat que suposa la composició d’un dipòsit osteològic que correspon a diversos individus, sinó pel seguit de modificacions post-deposicionals, tant naturals com culturals, que hi han actuat al llarg dels segles. Des de l’eventual cerimònia fúnebre original que acompanyava la inhumació d’un cos fa més de 3000 anys, fins a la intervenció arqueològica actual hauran passat molts incidents. Aquesta Tesi pretén entendre aquests dipòsits amb desordre aparent. Per això s’aposta per un estudi integral de les restes, que inclou la interrelació de les dades i observacions de camp, amb les dades de laboratori. La investigació aporta també una metodologia clara i fàcil per a la reconstrucció tafonòmica d’un jaciment amb restes humanes. Això la converteix en un model d’aplicació molt útil i pràctic que permet la reconstrucció de dipòsits funeraris de qualsevol àmbit i cronologia. / The material studied in this thesis corresponds to the anthropological record of seven collective burial from the late third millennium to the first half of the first millennium cal BC, from the western Mediterranean: Can Filuà, Can Ballarà , Mas Vilalba, Cova de Montanissell , Cova des Pas, Balma de Solans de Recots, and La Cantorella. Three of them correspond to burial in cave, while others correspond to underground structures, both in simple pits -often defined as a reused silo– or complex ones. The anthropological record corresponds to a minimum of 169 individuals, 77 of them recovered from caves and 92 of them recovered from pits, who lived and died between 4000 and 3000 years ago. The thesis consists of 13 articles that attempt to understand and explain why the skeletal remains are in the way they are during their exhumation. The position that human remains present in situ, before the uprising, is often not the same as the position in which their contemporaries left the bodies. The external appearance that bones offer is not equal, either. Aside from knowing who they were, how many they were, or how these people were, the thesis focuses on what processes happened since someone buried these people, and how this approach can be done. The reconstruction of the mortuary practices and the study of collective burials is not an easy task, since often anthropological record is ambiguous, not only because of the complexity of the osteological composition of a deposit that relates to various individuals, but because of the sequence of post-depositional changes, both natural and cultural, played here over the centuries. Starting from the original funerary ceremony accompanying the burial of a body over 3000 years ago, until the current archaeological excavations many incidents may have happened. This thesis aims to understand these deposits with apparent disorder. So, a comprehensive study of the remains is approached, including the interrelationship of data and field observations with laboratory data. The investigation also provides a clear and easy methodology for the taphonomic reconstruction of a site with human remains. Therefore, it becomes a useful and practical model that allows the reconstruction of funerary deposits of any field and timeline.

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In the recent years TNFRSF13B coding variants have been implicated by clinical genetics studies in Common Variable Immunodeficiency (CVID), the most common clinically relevant primary immunodeficiency in individuals of European ancestry, but their functional effects in relation to the development of the disease have not been entirely established. To examine the potential contribution of such variants to CVID, the more comprehensive perspective of an evolutionary approach was applied in this study, underling the belief that evolutionary genetics methods can play a role in dissecting the origin, causes and diffusion of human diseases, representing a powerful tool also in human health research. For this purpose, TNFRSF13B coding region was sequenced in 451 healthy individuals belonging to 26 worldwide populations, in addition to 96 control, 77 CVID and 38 Selective IgA Deficiency (IgAD) individuals from Italy, leading to the first achievement of a global picture of TNFRSF13B nucleotide diversity and haplotype structure and making suggestion of its evolutionary history possible. A slow rate of evolution, within our species and when compared to the chimpanzee, low levels of genetic diversity geographical structure and the absence of recent population specific selective pressures were observed for the examined genomic region, suggesting that geographical distribution of its variability is more plausibly related to its involvement also in innate immunity rather than in adaptive immunity only. This, together with the extremely subtle disease/healthy samples differences observed, suggests that CVID might be more likely related to still unknown environmental and genetic factors, rather than to the nature of TNFRSF13B variants only.

Entheses (skeletal attachment sites of muscles and ligaments) and their pathologic modifications (enthesopathies) have long been used as skeletal markers of activity in bioarchaeological (reconstruction of past populations lifestyle) and forensic (personal identification) contexts. However, a functional interpretation of these markers have to deal critically with the multifactorial etiology of the same. Factors such as sex, age, genetic factors, mechanical stress, metabolic conditions, etc.. can compete to produce the observed morphological variability at each attachment site. The aim of this thesis has drawn on the ongoing debate about the informativeness of entheseal modifications as skeletal markers of activity and represent a deepening of the actual knowledge about the relationship between these characters and sex, age and physical activity. For this purpose, the whole "Frassetto” identified skeletal collection of Sassari (Sardinia, Italy) was analyzed. The collection includes the skeletal remains of about 600 individuals died in the late 19th and early 20th century for whom information regarding sex, age at death and, in many cases the occupation are known The results obtained highlight the great age importance on the entheseal modifications. The differences observed between sexes may reflect differences in the level or type of activity performed in life, but could also be related to a different bone tissue response to mechanical stress due to hormonal factors and different growth rates. The role of biomechanical stress related to professional activities remains doubtful. This is probably partly attributable to the analyzed sample characteristics (preponderance of farmers compared with other professions, different mean age of the considered professional subsamples), which has hampered the analysis of samples homogenous with regard to age, which is very influential on the entheses and enthesopathies expression.

Osteoarthritis (OA) or degenerative joint disease (DJD) is a pathology which affects the synovial joints and characterised by a focal loss of articular cartilage and subsequent bony reaction of the subcondral and marginal bone. Its etiology is best explained by a multifactorial model including: age, sex, genetic and systemic factors, other predisposing diseases and functional stress. In this study the results of the investigation of a modern identified skeletal collection will be presented. In particular, we will focus on the relationship between the presence of OA at various joints. The joint modifications have been analysed using a new methodology that allows the scoring of different degrees of expression of the features considered. Materials and Methods The sample examined comes from the Sassari identified skeletal collection (part of “Frassetto collections”). The individuals were born between 1828 and 1916 and died between 1918 and 1932. Information about sex and age is known for all the individuals. The occupation is known for 173 males and 125 females. Data concerning the occupation of the individuals indicate a preindustrial and rural society. OA has been diagnosed when eburnation (EB) or loss of morphology (LM) were present, or when at least two of the following: marginal lipping (ML), esostosis (EX) or erosion (ER), were present. For each articular surface affected a “mean score” was calculated, reflecting the “severity” of the alterations. A further “score” was calculated for each joint. In the analysis sexes and age classes were always kept separate. For the statistical analyses non parametric test were used. Results The results show there is an increase of OA with age in all the joints analyzed and in particular around 50 years and 60 years. The shoulder, the hip and the knee are the joints mainly affected with ageing while the ankle is the less affected; the correlation values confirm this result. The lesion which show the major correlation with age is the ML. In our sample males are more frequently and more severely affected by OA than females, particularly at the superior limbs, while hip and knee are similarly affected in the two sexes. Lateralization shows some positive results in particular in the right shoulder of males and in various articular surfaces especially of the superior limb of both males and females; articular surfaces and joints are quite always lateralized to the right. Occupational analyses did not show remarkable results probably because of the homogeneity of the sample; males although performing different activities are quite all employed in stressful works. No highest prevalence of knee and hip OA was found in farm-workers respect to the other males. Discussion and Conclusion In this work we propose a methodology to score the different features, necessary to diagnose OA, that allows the investigation of the severity of joint degeneration. This method is easier than the one proposed by Buikstra and Ubelaker (1994), but in the same time allows a quite detailed recording of the features. Epidemiological results can be interpreted quite simply and they are in accordance with other studies; more difficult is the interpretation of the occupational results because many questions concerning the activities performed by the individuals of the collection during their lifespan cannot be solved. Because of this, caution is suggested in the interpretation of bioarcheological specimens. With this work we hope to contribute to the discussion on the puzzling problem of the etiology of OA. The possibility of studying identified skeletons will add important data to the description of osseous features of OA, enriching the medical documentation, based on different criteria. Even if we are aware that the clinical diagnosis is different from the palaeopathological one we think our work will be useful in clarifying some epidemiological as well as pathological aspects of OA.

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The Neolithic is characterized by the transition from a subsistence economy, based on hunting and gathering, to one based on food producing. This important change was paralleled by one of the most significant demographic increase in the recent history of European populations. The earliest Neolithic sites in Europe are located in Greece. However, the debate regarding the colonization route followed by the Middle-eastern farmers is still open. Based on archaeological, archaeobotanical, craniometric and genetic data, two main hypotheses have been proposed. The first implies the maritime colonization of North-eastern Peloponnesus from Crete, whereas the second points to an island hopping route that finally brought migrants to Central Greece. To test these hypotheses using a genetic approach, 206 samples were collected from the two Greek regions proposed as the arrival point of the two routes (Korinthian district and Euboea). Expectations for each hypothesis were compared with empirical observations based on the analysis of 60 SNPs and 26 microsatellite loci of Y-chromosome and mitochondrial DNA hypervariable region I. The analysis of Y-chromosome haplogroups revealed a strong genetic affinity of Euboea with Anatolian and Middle-eastern populations. The inferences of the time since population expansion suggests an earlier usage of agriculture in Euboea. Moreover, the haplogroup J2a-M410, supposed to be associated with the Neolithic transition, was observed at higher frequency and variance in Euboea showing, for both these parameters, a decreasing gradient moving from this area. The time since expansion estimates for J2a-M410 was found to be compatible with the Neolithic and slightly older in Euboea. The analysis of mtDNA resulted less informative. However, a higher genetic affinity of Euboea with Anatolian and Middle-eastern populations was confirmed. These results taken as a whole suggests that the most probable route followed by Neolithic farmers during the colonization of Greece was the island hopping route.

Two Amerindian populations from the Peruvian Amazon (Yanesha) and from rural lowlands of the Argentinean Gran Chaco (Wichi) were analyzed. They represent two case study of the South American genetic variability. The Yanesha represent a model of population isolated for long-time in the Amazon rainforest, characterized by environmental and altitudinal stratifications. The Wichi represent a model of population living in an area recently colonized by European populations (the Criollos are the population of the admixed descendents), whose aim is to depict the native ancestral gene pool and the degree of admixture, in relation to the very high prevalence of Chagas disease. The methods used for the genotyping are common, concerning the Y chromosome markers (male lineage) and the mitochondrial markers (maternal lineage). The determination of the phylogeographic diagnostic polymorphisms was carried out by the classical techniques of PCR, restriction enzymes, sequencing and specific mini-sequencing. New method for the detection of the protozoa Trypanosoma cruzi was developed by means of the nested PCR. The main results show patterns of genetic stratification in Yanesha forest communities, referable to different migrations at different times, estimated by Bayesian analyses. In particular Yanesha were considered as a population of transition between the Amazon basin and the Andean Cordillera, evaluating the potential migration routes and the separation of clusters of community in relation to different genetic bio-ancestry. As the Wichi, the gene pool analyzed appears clearly differentiated by the admixed sympatric Criollos, due to strict social practices (deeply analyzed with the support of cultural anthropological tools) that have preserved the native identity at a diachronic level. A pattern of distribution of the seropositivity in relation to the different phylogenetic lineages (the adaptation in evolutionary terms) does not appear, neither Amerindian nor European, but in relation to environmental and living conditions of the two distinct subpopulations.