Objetivos: Realizou-se estudos de dinâmica populacional de colônias de Panstrongylus megistus Burmeister, 1835 (Hemíptera: Reduviidae) espontaneamente estabelecida em Galinheiro Experimental (GE). Interpretou-se as correlações entre os fatores climáticos e os dados populacionais observados. Métodos: Pesquisou-se população triatomínica espontaneamente instalada em GE localizado no Sítio Carandá, Araraquara-SP, Brasil no período de novembro de 1998 a março de 2002. Através de revisões sistemáticas, marcação do dorso, soltura e recaptura; estudo da dinâmica populacional foi procedido pela análise das distribuições das freqüências de insetos de Kiritani-Nakasuji e pelo uso do índice de correlação linear de Pearson aplicado aos dados climáticos e populacionais. Resultados: Obteve-se colonização espontânea do GE por Panstrongylus megistus. O tamanho da população variou de 19 a 208 indivíduos. Maior presença de ninfas nos períodos de inverno e verão e de adultos durante a primavera e outono; as fêmeas permaneceram mais tempo no abrigo que os machos; estes estiveram em maior número na maior parte das revisões (razão de sexo = 1,22). O ciclo de desenvolvimento completo de ninfa I-adulto foi 540 dias, a sobrevivência diária para todos os estádios foi de 0,9975 e a sobrevivência total foi de 0,2573; não houve correlação significativa entre os dados populacionais e os fatores climáticos segundo índice de correlação linear de Pearson (r = 0,1780 para temperatura e r = 0,1078 para pluviosidade). Conclusões: Os GEs constituem ferramenta bastante útil para estudos ecológicos de triatomíneos; as colônias desenvolvidas em ecótopos artificiais por P. megistus são estáveis; disponibilizou-se dados relativos a estudos anteriores; são necessários novos estudos para esclarecer melhor o comportamento de domiciliação dessa espécie que é K-estrategistas conforme RABINOVICH, 1972 / Studies on spontaneous domiciliation in experimental chickens houses for wild populations of triatomines in the municipal district of Araraquara, São Paulo, in the period of XI/1998 III/2002. Objective: Studies of the dynamic of population, of colonies of Panstrongylus megistus Burmeister, 1835 (Hemiptera:Reduviidae) spontaneously established in chickens houses (CH) was accomplished. The correlation between climate factors and population data observed were interpreted. Method: The population of Triatominae spontaneously established in a chicken house of the ranch Carandá, Araraquara, SP, Brazil in the period of November of 1998 to March of 2002. Was researched by systematic revisions, dorsum markings, release and recapture; the study of the dynamic of the population was proceeded by the Kiritani-Nakasuji method for analysing of the insects stage-frequency data and by the Pearson´s linear correlation index applied to climatic and population data. Results: A spontaneous colonisation of the chicken house by Panstrongylus megistus was obtained. The size of the population varied from 19 to 208 individual. The greatest presence of nymphs was in the winter and summer time and the great presence of adults was during spring and fall; the females stayed more time in the shelter than the males; those ones were in the greatest number in the majority of the revisions (Sex ratio =1,22). The cycle of the development from nymph I to adult was 540 days, the daily survival for all stages was 0,9975 and the total survival was 0,2573; and according to the Pearson´s linear correlation index, it had not significant correlation between population data and climate factors (r= 0,1780 for temperature and r= 0,1078 for rainfall). Conclusion: The chicken house constitute a useful tool for ecological studies of Triatominae, the colonies of Panstrongylus megistus which are developed in artificial ecotopes are stable, data from previous studies was disposed and new researches are necessary to better clarify the dwelling behaviour of this specie, that according to RABINOVICH, 1972 is K- strategical.

Dois sistemas para amplificação simultânea de short tandem repeats (STRs) do cromossomo X foram desenvolvidos neste trabalho. O Multiplex 1 foi composto por HPRTB, DXS101, DXS7424, DXS6807, DXS6800 e GATA172D05 e o Multiplex 2 foi composto por DXS8378, DXS7133, DXS9898, DXS7423, DXS6809, DXS6789, DXS8377 e DXS6801. Além do desenvolvimento de dois sistemas multiplex, nós apresentamos, neste estudo, a freqüência alélica para esses locos na população do Rio Grande do Sul, Brasil. A amostra foi composta por um total de 266 indivíduos, sendo 125 mulheres e 141 homens. O equilíbrio de Hardy-Weinberg (HWE) foi testado na amostra feminina e não foram encontrados desvios significativos após a correção de Bonferroni. Os testes de desequilíbrio de ligação (LD) foram realizados para todos os pares de locos e três resultados significativos, após a correção de Bonferroni, de 91 comparações, foram obtidos entre DXS101 e DXS8377 (P<0,001), DXS7133 e DXS6809 (P<0,001) e DXS7423 e DXS6809 (P<0,001). O poder de discriminação em mulheres (PDF) variou entre 0,832 para DXS6801 e 0,987 para DXS8377. DXS6801 foi o marcador menos informativo (PIC=0,605), enquanto o DXS8377 foi o loco mais polimórfico (PIC=0,911), seguido pelo DXS101 (PIC=0,872). / We developed two multiplex systems for the coamplification of X-chromosomal short tandem repeats (STRs). X-Multiplex 1 consisted of HPRTB, DXS101, DXS7424, DXS6807, DXS6800 and GATA172D05 and X-Multiplex 2 consisted of DXS8378, DXS7133, DXS9898, DXS7423, DXS6809, DXS6789, DXS8377 and DXS6801. In addition, we present allele frequencies for this loci in a south Brazilian population comprising 125 females and 141 males. Hardy-Weinberg equilibrium (HWE) was tested in the female sample and no significant deviations were found, after applying Bonferroni’s correction. Linkage disequilibrium (LD) tests were performed for all pairs of loci and three significant results, even after applying Bonferroni’s correction, out of 91 pairwise comparisons, were obtained between DXS101 and DXS8377 (P<0.001), DXS7133 and DXS6809 (P<0.001) and DXS7423 and DXS6809 (P<0.001). The power of discrimination in females (PDF) varied between 0,832 for DXS6801 and 0,987 for DXS8377. DXS6801 was the least informative marker (PIC=0,605), while DXS8377 was the most polymorphic (PIC=0,911), followed by DXS101 (PIC=0,872).

Dois sistemas para amplificação simultânea de short tandem repeats (STRs) do cromossomo X foram desenvolvidos neste trabalho. O Multiplex 1 foi composto por HPRTB, DXS101, DXS7424, DXS6807, DXS6800 e GATA172D05 e o Multiplex 2 foi composto por DXS8378, DXS7133, DXS9898, DXS7423, DXS6809, DXS6789, DXS8377 e DXS6801. Além do desenvolvimento de dois sistemas multiplex, nós apresentamos, neste estudo, a freqüência alélica para esses locos na população do Rio Grande do Sul, Brasil. A amostra foi composta por um total de 266 indivíduos, sendo 125 mulheres e 141 homens. O equilíbrio de Hardy-Weinberg (HWE) foi testado na amostra feminina e não foram encontrados desvios significativos após a correção de Bonferroni. Os testes de desequilíbrio de ligação (LD) foram realizados para todos os pares de locos e três resultados significativos, após a correção de Bonferroni, de 91 comparações, foram obtidos entre DXS101 e DXS8377 (P<0,001), DXS7133 e DXS6809 (P<0,001) e DXS7423 e DXS6809 (P<0,001). O poder de discriminação em mulheres (PDF) variou entre 0,832 para DXS6801 e 0,987 para DXS8377. DXS6801 foi o marcador menos informativo (PIC=0,605), enquanto o DXS8377 foi o loco mais polimórfico (PIC=0,911), seguido pelo DXS101 (PIC=0,872). / We developed two multiplex systems for the coamplification of X-chromosomal short tandem repeats (STRs). X-Multiplex 1 consisted of HPRTB, DXS101, DXS7424, DXS6807, DXS6800 and GATA172D05 and X-Multiplex 2 consisted of DXS8378, DXS7133, DXS9898, DXS7423, DXS6809, DXS6789, DXS8377 and DXS6801. In addition, we present allele frequencies for this loci in a south Brazilian population comprising 125 females and 141 males. Hardy-Weinberg equilibrium (HWE) was tested in the female sample and no significant deviations were found, after applying Bonferroni’s correction. Linkage disequilibrium (LD) tests were performed for all pairs of loci and three significant results, even after applying Bonferroni’s correction, out of 91 pairwise comparisons, were obtained between DXS101 and DXS8377 (P<0.001), DXS7133 and DXS6809 (P<0.001) and DXS7423 and DXS6809 (P<0.001). The power of discrimination in females (PDF) varied between 0,832 for DXS6801 and 0,987 for DXS8377. DXS6801 was the least informative marker (PIC=0,605), while DXS8377 was the most polymorphic (PIC=0,911), followed by DXS101 (PIC=0,872).

Dois sistemas para amplificação simultânea de short tandem repeats (STRs) do cromossomo X foram desenvolvidos neste trabalho. O Multiplex 1 foi composto por HPRTB, DXS101, DXS7424, DXS6807, DXS6800 e GATA172D05 e o Multiplex 2 foi composto por DXS8378, DXS7133, DXS9898, DXS7423, DXS6809, DXS6789, DXS8377 e DXS6801. Além do desenvolvimento de dois sistemas multiplex, nós apresentamos, neste estudo, a freqüência alélica para esses locos na população do Rio Grande do Sul, Brasil. A amostra foi composta por um total de 266 indivíduos, sendo 125 mulheres e 141 homens. O equilíbrio de Hardy-Weinberg (HWE) foi testado na amostra feminina e não foram encontrados desvios significativos após a correção de Bonferroni. Os testes de desequilíbrio de ligação (LD) foram realizados para todos os pares de locos e três resultados significativos, após a correção de Bonferroni, de 91 comparações, foram obtidos entre DXS101 e DXS8377 (P<0,001), DXS7133 e DXS6809 (P<0,001) e DXS7423 e DXS6809 (P<0,001). O poder de discriminação em mulheres (PDF) variou entre 0,832 para DXS6801 e 0,987 para DXS8377. DXS6801 foi o marcador menos informativo (PIC=0,605), enquanto o DXS8377 foi o loco mais polimórfico (PIC=0,911), seguido pelo DXS101 (PIC=0,872). / We developed two multiplex systems for the coamplification of X-chromosomal short tandem repeats (STRs). X-Multiplex 1 consisted of HPRTB, DXS101, DXS7424, DXS6807, DXS6800 and GATA172D05 and X-Multiplex 2 consisted of DXS8378, DXS7133, DXS9898, DXS7423, DXS6809, DXS6789, DXS8377 and DXS6801. In addition, we present allele frequencies for this loci in a south Brazilian population comprising 125 females and 141 males. Hardy-Weinberg equilibrium (HWE) was tested in the female sample and no significant deviations were found, after applying Bonferroni’s correction. Linkage disequilibrium (LD) tests were performed for all pairs of loci and three significant results, even after applying Bonferroni’s correction, out of 91 pairwise comparisons, were obtained between DXS101 and DXS8377 (P<0.001), DXS7133 and DXS6809 (P<0.001) and DXS7423 and DXS6809 (P<0.001). The power of discrimination in females (PDF) varied between 0,832 for DXS6801 and 0,987 for DXS8377. DXS6801 was the least informative marker (PIC=0,605), while DXS8377 was the most polymorphic (PIC=0,911), followed by DXS101 (PIC=0,872).

Objetivos: Realizou-se estudos de dinâmica populacional de colônias de Panstrongylus megistus Burmeister, 1835 (Hemíptera: Reduviidae) espontaneamente estabelecida em Galinheiro Experimental (GE). Interpretou-se as correlações entre os fatores climáticos e os dados populacionais observados. Métodos: Pesquisou-se população triatomínica espontaneamente instalada em GE localizado no Sítio Carandá, Araraquara-SP, Brasil no período de novembro de 1998 a março de 2002. Através de revisões sistemáticas, marcação do dorso, soltura e recaptura; estudo da dinâmica populacional foi procedido pela análise das distribuições das freqüências de insetos de Kiritani-Nakasuji e pelo uso do índice de correlação linear de Pearson aplicado aos dados climáticos e populacionais. Resultados: Obteve-se colonização espontânea do GE por Panstrongylus megistus. O tamanho da população variou de 19 a 208 indivíduos. Maior presença de ninfas nos períodos de inverno e verão e de adultos durante a primavera e outono; as fêmeas permaneceram mais tempo no abrigo que os machos; estes estiveram em maior número na maior parte das revisões (razão de sexo = 1,22). O ciclo de desenvolvimento completo de ninfa I-adulto foi 540 dias, a sobrevivência diária para todos os estádios foi de 0,9975 e a sobrevivência total foi de 0,2573; não houve correlação significativa entre os dados populacionais e os fatores climáticos segundo índice de correlação linear de Pearson (r = 0,1780 para temperatura e r = 0,1078 para pluviosidade). Conclusões: Os GEs constituem ferramenta bastante útil para estudos ecológicos de triatomíneos; as colônias desenvolvidas em ecótopos artificiais por P. megistus são estáveis; disponibilizou-se dados relativos a estudos anteriores; são necessários novos estudos para esclarecer melhor o comportamento de domiciliação dessa espécie que é K-estrategistas conforme RABINOVICH, 1972 / Studies on spontaneous domiciliation in experimental chickens houses for wild populations of triatomines in the municipal district of Araraquara, São Paulo, in the period of XI/1998 III/2002. Objective: Studies of the dynamic of population, of colonies of Panstrongylus megistus Burmeister, 1835 (Hemiptera:Reduviidae) spontaneously established in chickens houses (CH) was accomplished. The correlation between climate factors and population data observed were interpreted. Method: The population of Triatominae spontaneously established in a chicken house of the ranch Carandá, Araraquara, SP, Brazil in the period of November of 1998 to March of 2002. Was researched by systematic revisions, dorsum markings, release and recapture; the study of the dynamic of the population was proceeded by the Kiritani-Nakasuji method for analysing of the insects stage-frequency data and by the Pearson´s linear correlation index applied to climatic and population data. Results: A spontaneous colonisation of the chicken house by Panstrongylus megistus was obtained. The size of the population varied from 19 to 208 individual. The greatest presence of nymphs was in the winter and summer time and the great presence of adults was during spring and fall; the females stayed more time in the shelter than the males; those ones were in the greatest number in the majority of the revisions (Sex ratio =1,22). The cycle of the development from nymph I to adult was 540 days, the daily survival for all stages was 0,9975 and the total survival was 0,2573; and according to the Pearson´s linear correlation index, it had not significant correlation between population data and climate factors (r= 0,1780 for temperature and r= 0,1078 for rainfall). Conclusion: The chicken house constitute a useful tool for ecological studies of Triatominae, the colonies of Panstrongylus megistus which are developed in artificial ecotopes are stable, data from previous studies was disposed and new researches are necessary to better clarify the dwelling behaviour of this specie, that according to RABINOVICH, 1972 is K- strategical.

Background: Human Immunodeficiency Virus (HIV) and Acquired Immunodeficiency Syndrome (AIDS) is an urgent public health issue in Mexico. Mexico has witnessed a 122% increase in reported prevalence of HIV since 2001 (Holtz et al., 2014). Country estimates suggest there are between 140,000-230,000 individuals living with HIV in Mexico (CENSIDA, 2014). While approximately 50% of individuals living with HIV in Mexico are unaware that they are living with the virus (CENSIDA, 2014). Despite a federal universal HIV program implemented in 2011, HIV in Mexico has not reached a chronic infectious disease status as seen in other regions of the globe (Deeks, 2013). The mortality rate among individuals with HIV/AIDS in Mexico is 4.2 per 100,000 (CENSIDA, 2014). There is a paucity of findings regarding social and epidemiological data focused on populations outside traditional at risk populations of HIV in Mexico (Martin-Onraët et al., 2016). Analyzing aggregate country level data for Mexico provides necessary insights to better understanding previously unconsidered social factors that are informing sexual and reproductive health trends influencing HIV health patterns. Methods: Secondary analyses were performed on Mexico's Encuesta Nacional de Salud y Nutrición 2012 (ENSANUT). Mexico’s ENSANUT is a probabilistic aggregate national dataset with a multistage stratified cluster sampling design (Janssen et al., 2013). ENSANUT is Mexico’s equivalent to the National Health and Nutrition Examination Survey (NHANES) in the United States. Data is collected via self-report interviews conducted at the participant's home. A structured questionnaire was administered to individuals 20 years of age and older (≥ 20) where sexual and reproductive data was collected from participants. The ENSANUT adult study sub-sample (n=46,227) is comprised of 42.75% men and 57.25% women. A general linear model (GLM), principal component analysis (PCA), chi-squares (χ²), and logistic regressions were applied to the study adult subsample to disentangle social factors associated with sexually transmitted infections (STIs) in the population. Quantitative analyses were conducted on SAS 9.4. Findings: Men were more likely to have a STI diagnosis (OR=3.60; 95% CI 3.00, 4.32, p=<0.001). Previous HIV testing was found to be protective for STI diagnosis across both genders (OR=0.82, 95% CI 0.72, 0.94, p=<0.001). Co-infections of HIV/gonorrhea and HIV/syphilis (n=20) were the highest in the study population. The latent variable model indicates mental health and access to health care resources are critical for positive sexual and reproductive health outcomes in Mexico. Mental health was found to be non-protective for STI risk among the study population (OR=1.59, 95% CI 1.41, 1.81, p=<0.0001). Policy recommendations: 1. Increased access and utilization of HIV resources and mental health services would benefit the study population. Further qualitative research is needed to better understand the barriers to health care access and utilization in these two domains; 2. Increase in preventative programs and health initiatives that encourage established strategies for positive sexual and reproductive health outcomes. These strategies include: universal human papillomavirus (HPV) vaccines, wide availability of Pre-Exposure Prophylaxis (PrEP), and routine HIV/STI screenings; 3. Alternative data collection strategies for ENSANUT which are culturally appropriate for sexual and reproductive health constructs.

Introduction: Lung cancer is the leading cause of cancer death worldwide. In Canada, in 2021 alone, an estimated 21,000 patients have died from this disease. Non-small cell lung cancer (NSCLC) constitutes 85% of all lung cancer cases diagnosed. Over the past 30 years, treatment of unresected locally advanced (LA)-NSCLC evolved from treatment with chest radiotherapy (RT) alone to the current standard of care (SOC) of concurrent chemo-radiation (cCRT), followed by consolidative immunotherapy. Modern RT has influenced the survival of LA-NSCLC patients. In this work we analyzed data from provincial and local institutional databases to evaluate whether, i) the use of modern imaging with 18F-deoxyglucose (FDG)-positron emission tomography (PET), ii) dose of chest RT to tumors and iii) unintentional irradiation of normal tissues during treatment for lung cancer, influence outcomes of patients managed with RT. Methodology: Ontario provincial databases were searched through the Institute of Clinical Evaluative Sciences (IC/ES) for stage III NSCLC patients diagnosed between 2007 and 2017. Surgical patients were excluded, and all patients that received RT with or without chemotherapy were selected. Patients were divided into groups of different RT doses (<40Gy, 40-55.9Gy, and ≥56Gy) and whether they underwent diagnostic FDG-PET. For the next study phase (the institutional level), we retrospectively identified and reviewed LA-NSCLC patients treated at local health integration network area 4 (LHIN4) cancer centres (Juravinski and Walker Family Cancer Centres) from 2009 to 2019. We selected patients treated in that period with chest RT > 40Gy with or without chemotherapy. Patients’ data were reviewed individually for disease characteristics, staging investigations, RT treatment parameters and survival outcomes. Dosimetric analysis was performed on both groups of patients (RT alone group and cCRT group). Results: The provincial analysis included 5,577 stage III patients who had received chest RT without surgery between January 2007 and March 2017. Within this group, 39.8% (2,225) received RT alone, 47.4% (2,645) received concurrent chemo-radiotherapy (cCRT), and 12.6% (707) received sequential chemo-radiotherapy (sCRT). Median overall survival (OS) with RT alone in three dose groups <40Gy, 40-55.9Gy, ≥ 56Gy was 7.2, 8.5 and 13.3 months compared to 16.5, 15.8 and 22 months for cCRT patients. Higher RT dose and PET utilization were independently associated with improved survival in multivariate analysis. At the institutional analysis, 84 patients were treated with RT alone, 184 with cCRT and patients with sequential CRT were excluded. In the RT alone group, the median, 1- and 3-year overall survival were 18.1 months, 64.4% and 24.3%, respectively. In comparison, the median, 1- and 3-year survival outcomes in the cCRT group were 36.3 months, 82.5%, and 50.4%, respectively. Additionally, 79.8% of patients in the radiation alone group and 95.1% in cCRT group had PET staging. In univariate analysis, the RT dose prescribed to the tumor and RT dose delivered to the heart were significantly associated with survival, while multivariate analysis only showed the significant association between RT dose to heart and overall survival. Conclusions: Our population-based analysis confirmed that radiation monotherapy remains a widely used treatment modality in LA-NSCLC. Higher RT doses and utilization of FDG-PET imaging are associated with improved survival in patients with unresected LA-NSCLC managed with RT. The institutional analysis suggests that in well-staged patients with LA-NSCLC, chest RT of ≥40Gy is associated with improved survival outcomes that compare favorably with historical results of definitive RT alone treatment. Further, survival of patients staged well with FDG-PET and treated with SOC cCRT was higher than historical reports. Importantly, in this study we found that RT dose delivered to the heart associates negatively with patient survival. These findings can help improve clinical decision-making in the management of unresected LA-NSCLC and can serve as basis for future clinical trials. / Thesis / Master of Science (MSc) / Lung cancer is the leading cause of cancer death in Canada and worldwide. These tumors are present as two main histological types, small cell and non-small cell lung cancer, the latter of which consists the majority of the cases diagnosed. Although treatments with surgery or radiotherapy provide reasonable outcomes in lung cancer cases detected early, a high proportion of patients present with localized but advanced disease that is inoperable. Over the last three decades, treatment of locally advanced non-small cell lung cancer has evolved from radiation alone to chemoradiation and immunotherapy. These developments have increased the survival of these patients. In this thesis, we tried to dissect the elements that play roles in the survival of locally advanced non-small cell lung cancer patients. To do this, we evaluated such patients at two levels. First, at the provincial level, we evaluated the type of treatments, and we explored the association of metabolic imaging with positron emission tomography (PET) and the use of high-dose chest radiotherapy with patient survival. Second, at the institutional level, we assessed patients’ outcomes with a more detailed approach. We analyzed the type of treatment along with a detailed dosimetric analysis. The results of our analysis suggest that the use of PET scans and curative radiotherapy is associated with improved survival. On the other hand, the unintentional treatment of the heart with increasing doses of radiotherapy, taking place during chest radiation for lung cancer, is associated with poor outcomes. These results provide a basis for further investigation to improve outcomes of radiotherapy in this disease.

When analyzing skeletal remains in bioarchaeology, the pelvis and skull provide the most accurate results for sex estimation; however, these are not always present or sufficiently preserved to provide quality data for this purpose. In addition, the amount of time spent analyzing human remains in field or museum collection contexts may be constrained. Therefore, alternate methods of sex estimation that also increase efficiency should be explored. This study aims to establish the minimum number of key measurements of the talus necessary to estimate biological sex with a level of accuracy comparable to published studies that are more time intensive in their data collection. Measures of talus width, length, height, and volume were collected on individuals from two ancient Egyptian (N=162) and three ancient Maya (N=98) archaeological populations. Set points and allocation ranges for these four measures were applied to individuals of known sex and indeterminate sex from these populations to test their accuracy and then compared with the accuracies achieved in existing research using the talus in sex estimation. The four measures used in this study resulted in comparably high accuracy in sex estimation when compared with prior research based on more extensive methods using the talus. The most significant limitation of this study was the small number of individuals available for data collection from three of the smaller site populations. Nevertheless, the method used in this study directly addresses logistical and ethical concerns surrounding the analysis of human remains as it requires less time spent handling the remains and less time spent on analysis out of the field while still providing comparable accuracy. This study also contributes population data for ancient Egyptians and ancient Maya which will facilitate further investigations of sexual dimorphism and sex estimation in these populations.

Yes / Craniofacial anthropometry plays an important role in facial structure. This review paper evaluates existing research surrounding population norms of studied facial parameters. The purpose is two-fold: (1) to determine variations in facial measurements due to demi-group or ethnic variations based on traditional (direct) caliper based and image based (indirect) anthropometric methods. (2) to compare where possible, measured facial parameters between referenced studies. Inter and intra-population variations in addition to sexual dimorphism of facial parameters such as the nose and eyes, singularly or in combination with one another, have been concluded. Ocular measurements have exhibited ethnic variations between males and females of the Saudi, Turkish, Egyptian and Iranian group. Moreover, demic variations are reported when the native language has been used a key criterion. It has been concluded that with the current state of migration and inter-demic marriages, the study of homogenous populations will prove difficult. Subsequently, this will result in ambiguous physical traits that are not representative for any one demic or ethnic population. In this paper, results for the following adult male and female populations have been discussed: African American, Azerbaijani, Caribbean, Chinese, Croatian, Egyptian, Italian, Iranian, Turkish, Saudi Arabian, Syrian and South African. The qualitative research presented serves as a knowledge base for learners and strikes up thought provoking concepts about the direction anthropometrical research is heading.

Le modèle linéaire mixte a été formalisé il y a plus de 60 ans. Celui-ci permet d'estimer un modèle avec des effets fixes équivalents à ceux du modèle linéaire classique et des effets aléatoires. Ce type de modélisation, d'abord utilisé en génétique animale, est depuis quelques années largement utilisé en génétique humaine. Les utilisations de ce modèle sont nombreuses. En effet, il peut être utilisé en étude de liaison, d'association, pour l'estimation de l'héritabilité ou encore dans la recherche d'empreinte parentale et peut s'adapter à des données familiales ou en population.Le but de mon doctorat est d'exploiter différentes méthodes basées sur les modèles mixtes d'abord sur des données génétiques en population puis sur des données génétiques familiales.Dans un premier temps, nous explorons dans ce manuscrit la théorie des modèles linéaires mixtes et leur utilisation en génétique. Nous adaptons aussi certaines méthodes pour les appliquer à notre recherche. Ce travail a donné lieu au développement informatique d'un package R permettant d'utiliser ces modèles dans le cadre des études génétiques.Dans un deuxième temps, nous utilisons les modèles linéaires mixtes pour l'estimation de l'héritabilité dans une étude en population française, l'étude Trois-Cités. Nous disposons dans cette étude des génotypes des tag-SNPs habituellement utilisés dans les études d'association ainsi que des lieux de naissance et de plusieurs traits anthropométriques quantitatifs tels que la taille. L'objectif est alors d'étudier la présence et la prise en compte dans l'analyse de stratification de population dans cette étude. Dans ce manuscrit, nous analysons les coordonnées géographiques des lieux de naissance. Nos résultats mettent en évidence la difficulté pour corriger correctement la stratification de population avec les méthodes classiques dans certains cas. Nous analysons ensuite les traits anthropométriques en particulier la taille dont nous estimons l'héritabilité à 39% dans la population de l'étude Trois-Cités.Dans la dernière partie de ce manuscrit, nous nous concentrons sur les données familiales. Nous montrons le gain d’information que peut apporter ce type de données dans la recherche des variants causaux. Puis, nous explorons l'utilisation des modèles mixtes sur des données familiales en appliquant certaines des méthodes associées dans la recherche de signaux d'association pour la Sclérose en Plaques, une maladie auto-immune, en utilisant un échantillon d’une centaine de familles nucléaires avec au moins deux germains atteints. Nous avons alors mis en évidence l’inadéquation des méthodes classiques basées sur les modèles mixtes à ce type de données. Afin de mieux comprendre ce biais de sélection et de le corriger, plus d’investigations sont nécessaires. / Linear mixed models have been formalized 60 years ago. These models allow to estimate fixed effects, as in the linear models, and random effects. First used in animal genetics, this type of modelling have been widely used in human genetics since a few years. Mixed models can be used in many genetic analysis; linkage and association studies, heritability estimations and Parent-of Origin effects studies for population or familial data.My thesis’ aim is to investigate mixed models based methods, for genetic data in population and, for familial genetic data.In the first part of my thesis, we investigated the mixed model statistical theory and their multiple uses in human genetics. We also adapted methods for our own work. An R package have been created which permits to analyze genetic data in R environment with mixed models.In a second part, we applied mixed models on Three-Cities data, a French longitudinal study, to estimate heritability of several traits. For this analysis, we have access to tag-SNPs typically used in genome-wide association studies, birthplaces and several anthropometric traits. The aim of our study is to analyze presence of population stratification and evaluate methods to correct it. In the one hand, we analyzed birthplace geographic coordinates and showed that the correction for population stratification by classical method is not sufficient in this case. In the other hand, we analyzed anthropometric traits, in particular the height for which we estimated heritability to 39% in Three-Cities study population.In the last part, we focused on family data. In a first work, we exploited familial information in causal variant research. In a second work, we explored mixed models uses for familial data, in particular association study, on Multiple Sclerosis data. We showed that mixed model methods can not be used without taking account the ascertainment scheme: in our data, all families have at least two affected sibs. To understand and correct this phenomenon, more investigations are needed.