The striking similarity between Gestational Diabetes Mellitus (GDM) and Type 2 Diabetes (T2D) in terms of the pathophysiologies and the risk factors has led to the hypothesis that GDM is an early manifestation of T2D, expressed under the stress of pregnancy, and therefore both diseases should share similar susceptibility genes. GDM patients may provide a more homogeneous sample for the genetic causes of the disease than T2D, and therefore make a useful group for the identification of the genes involved. Over 200 GDM affected sib-pairs from 178 families were investigated, with parents available in 40% of cases. Genomic regions from 4 different chromosomes, 6, 8, 14 and 18 were chosen from regions that showed clustering for positive linkage scores in previous linkage studies on T2D and one control region on 13, where no previous positive linkage was reported. A total of 19 microsatellite markers were analysed for linkage to GDM using sib-pair analysis. Subset analyses were performed by ranking sib-pairs on GDM-related variables, e.g. mean BMI of sibs, age at GDM episode, etc. GENEHUNTER was run multiple times, each time including the next highest ranked family in the analysis. This gave a continuous range of scores where increasing or decreasing NPL scores indicated heterogeneity associated with different environmental factors such as age and weight. To evaluate the significance of the subset analyses, the results were compared to 10,000 permutations generated by randomly ranking the sib-pairs. Using the entire dataset, the analysis showed no significant linkage to a disease locus. Positive evidence for linkage was found with the subset analysis on chromosomes 8 and 14, suggesting heterogeneity between sib-pairs in the dataset. Marker D8S1742 on 8p23 showed an NPL score of 3.01 (p=0.001) when age at GDM diagnosis was used as a covariate. Using waist-to-hip ratio (WHR), marker D14S275 on 14q12 showed an NPL score of 2.474 (p=0.006). When adjusted for multiple testing, the results were not statistically significant for linkage to a diabetes disease locus, but gave evidence that GDM and T2D share similar genetic determinants, and defined groups of siblings for follow-up analysis of both types of diabetes.

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O presente trabalho teve como objetivo estimar parâmetros genéticos e fenotípicos do peso da gordura abdominal e de características de desempenho, carcaça e composição corporal em uma linhagem macho de frangos de corte fornecida pela Agroceres Ross Melhoramento de Aves S. A. As aves faziam parte do programa denominado sib test, ou teste de irmãos, onde são coletadas informações de carcaça dos irmãos dos indivíduos a serem selecionados, estes chamados de rebanho elite. 30273 informações de granja das aves elite e de seus irmãos foram concedidas pela Empresa e 6167 dados de abatedouro dos irmãos das aves elite foram coletados. As características analisadas foram: peso à seleção (PS), medidas de ultra-sonografia do músculo peitoral (US1 e US2), conversão alimentar (CA), eficiência alimentar (EA), ingestão (ING), peso vivo (PV), peso eviscerado (PE), peso do peito (PPEI), peso de pernas (PPER), rendimento de carcaça (RCAR), rendimento de peito (RPEI), rendimento de pernas (RPER), peso da gordura abdominal (PGA), peso do coração (PC), peso da moela (PM), peso do fígado (PF), peso do intestino (PI), escore do coração (ESCC) e escore do fígado (ESCF). Os componentes de (co) variância foram estimados por verossimilhança restrita, utilizando-se o programa MTDFREML. As estimativas de herdabilidade foram em sua maioria moderadas, sendo alta para peso da gordura abdominal, o que sugere que esta característica é passível de seleção. As correlações genéticas e fenotípicas variaram de acordo com as características analisadas. / This research was conducted to estimate genetic and phenotypic parameters of abdominal fat and performance, carcass and body composition traits in a male broiler line provided by Agroceres Ross Melhoramento de Aves S. A. The broilers belonged to sib test program, in which data from brothers and sisters of the individuals to be selected, called elite flock, are collected. 30273 farm data of chicken from elite flock and their sibs were conceded by the Company and 6167 processing data from sibs of elite flock were collected. The traits analyzed were: body weight at juvenile selection (PS), ultrasound records of pectoral muscle (US1 e US2), feed conversion ratio (CA), feed efficiency (EA), feed intake (ING), live weight at processing (PV), carcass weight (PE), breast weight (PPEI), leg weight (PPER), carcass yield (RCAR), breast yield (RPEI), leg yield (RPER), abdominal fat weight (PGA), heart weight (PC), gizzard weight (PM), liver weight (PF), intestine weight (PI), heart score (ESCC) and liver score (ESCF). (Co) variance components were estimated by restricted maximum likelihood method, using the software MTDFREML. Heritability coefficients estimated were mostly moderate, and the heritability of abdominal fat weight was high, which suggests that this trait can be selected. Genetic and phenotypic correlations coefficients estimated varied according to the trait studied.

O presente trabalho teve como objetivo estimar parâmetros genéticos e fenotípicos do peso da gordura abdominal e de características de desempenho, carcaça e composição corporal em uma linhagem macho de frangos de corte fornecida pela Agroceres Ross Melhoramento de Aves S. A. As aves faziam parte do programa denominado sib test, ou teste de irmãos, onde são coletadas informações de carcaça dos irmãos dos indivíduos a serem selecionados, estes chamados de rebanho elite. 30273 informações de granja das aves elite e de seus irmãos foram concedidas pela Empresa e 6167 dados de abatedouro dos irmãos das aves elite foram coletados. As características analisadas foram: peso à seleção (PS), medidas de ultra-sonografia do músculo peitoral (US1 e US2), conversão alimentar (CA), eficiência alimentar (EA), ingestão (ING), peso vivo (PV), peso eviscerado (PE), peso do peito (PPEI), peso de pernas (PPER), rendimento de carcaça (RCAR), rendimento de peito (RPEI), rendimento de pernas (RPER), peso da gordura abdominal (PGA), peso do coração (PC), peso da moela (PM), peso do fígado (PF), peso do intestino (PI), escore do coração (ESCC) e escore do fígado (ESCF). Os componentes de (co) variância foram estimados por verossimilhança restrita, utilizando-se o programa MTDFREML. As estimativas de herdabilidade foram em sua maioria moderadas, sendo alta para peso da gordura abdominal, o que sugere que esta característica é passível de seleção. As correlações genéticas e fenotípicas variaram de acordo com as características analisadas. / This research was conducted to estimate genetic and phenotypic parameters of abdominal fat and performance, carcass and body composition traits in a male broiler line provided by Agroceres Ross Melhoramento de Aves S. A. The broilers belonged to sib test program, in which data from brothers and sisters of the individuals to be selected, called elite flock, are collected. 30273 farm data of chicken from elite flock and their sibs were conceded by the Company and 6167 processing data from sibs of elite flock were collected. The traits analyzed were: body weight at juvenile selection (PS), ultrasound records of pectoral muscle (US1 e US2), feed conversion ratio (CA), feed efficiency (EA), feed intake (ING), live weight at processing (PV), carcass weight (PE), breast weight (PPEI), leg weight (PPER), carcass yield (RCAR), breast yield (RPEI), leg yield (RPER), abdominal fat weight (PGA), heart weight (PC), gizzard weight (PM), liver weight (PF), intestine weight (PI), heart score (ESCC) and liver score (ESCF). (Co) variance components were estimated by restricted maximum likelihood method, using the software MTDFREML. Heritability coefficients estimated were mostly moderate, and the heritability of abdominal fat weight was high, which suggests that this trait can be selected. Genetic and phenotypic correlations coefficients estimated varied according to the trait studied.

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES / The objective of this study was to evaluate, through simulation of data, different selection strategies adopted in a breeding program of swine and their impacts on levels of inbreeding and genetic gains. In addition to specifically estimating the impact of restrictions on the maximum number of sons and daughters by male or female and the impact of rates and productive losses on levels of inbreeding and genetic gain. Data from real populations A, composed of Pietrain pigs, and B, by Landrace pigs, used in this study, came from two genetic lines located on farms in the west of the Santa Catarina state. To generate the simulated populations, a Fortran language simulator was used in which the information of the real populations was used: two main input files, one containing the pedigree of the last 10 years, with 21,906 animals in population A and 251,343 animals in population B, And another one containing the estimated breeding values for age, backfat and feed conversion, all adjusted to 110 kg of live weight, for both populations, as well as depth of the longissimus dorsi muscle adjusted for 110 kg of live weight - only for population A, and number of live piglets at the 5th day of life, per farrowing, only for population B, of the selected animals in 2014 (Generation 0). In addition to the (co)variances of estimated breeding values, rates and productive and reproductive averages, number of mating and number of animals selected per generation. In each article, three scenarios were simulated: in article 1 the scenarios varied in the restrictions on the number of full siblings and half-siblings selected, for males and females, already in article 2 the variations in the scenarios were in the mortality rate in the lactation and farrowing rate. Ten generations were simulated, with 30 repetitions each generation and scenario. The results of the simulation of data in a breeding program of swine allow to conclude that: there is an increase in the inbreeding levels in a closed nucleus independent of the selection strategy used; the rate of inbreeding are larger in populations of smaller effective size; restrictions on the number of full siblings and half-siblings selected are efficient to reduce the rates of inbreeding, with the restriction of a maximum of two full-siblings and three half-siblings for males and three full-siblings for females, for having obtained the highest genetic gains, is indicated as a selection strategy to be adopted in these populations; there is an increase in the levels of consanguinity in a closed nucleus with an increase in productive and reproductive losses; the productive and reproductive losses reduce the variances of the estimated breeding values and, mainly, the intensities of selection, reducing the genetic gains; actions that maximize farrowing rates are preponderant to those that minimize mortality rates in the lactation, since the reduction in simulated farrowing rate has resulted in greater losses in genetic gains. / O objetivo deste estudo foi avaliar, através de simulação de dados, diferentes estratégias de seleção adotadas em programa de melhoramento genético de suínos e seus impactos nos níveis de consanguinidade e ganhos genéticos. Além de, especificamente, estimar o impacto de restrições no número máximo de filhos e filhas por macho ou fêmea e o impacto de taxas e perdas produtivas nos níveis de consanguinidade do plantel e no ganho genético. Os dados das populações reais A, composta por suínos da raça Pietrain, e B, por suínos da raça Landrace, utilizados neste estudo, foram provenientes de duas linhagens localizadas em granjas no oeste do estado de Santa Catarina. Para gerar as populações simuladas foi desenvolvido um simulador em linguagem Fortran no qual utilizou-se as informações das populações reais: dois arquivos de dados iniciais, um contendo o pedigree dos últimos 10 anos, sendo 21.906 animais na população A e 251.343 animais na população B, e outro contendo os valores genéticos para idade, espessura de toucinho e conversão alimentar, todos ajustados para 110 kg de peso vivo, para ambas as populações, além de profundidade do músculo longissimus dorsi ajustada para 110 kg de peso vivo – somente para a população A e número de leitões vivos ao 5º dia de vida, por parto, somente para a população B, dos animais selecionados em 2014 (Geração 0), além das (co)variâncias dos valores genéticos, as taxas e médias produtivas e reprodutivas, restrições de número de coberturas e número de animais selecionados por geração. Em cada artigo foram simulados três cenários: no artigo 1 os cenários variaram nas restrições no número de irmãos completos e meios-irmãos selecionados, para machos e fêmeas, já no artigo 2 as variações nos cenários foram na taxa de mortalidade na lactação e taxa de parto. Foram simuladas dez gerações, com 30 repetições cada geração e cenário. Os resultados da simulação de dados em programa de melhoramento genético de suínos permitem concluir que: há incremento dos níveis de consanguinidade em núcleo de produção fechado independente da estratégia utilizada; os incrementos de consanguinidade são maiores em populações de tamanho efetivo menor; restrições no número de irmãos completos e meios-irmãos selecionados são eficientes para reduzir os incrementos de consanguinidade, sendo que a restrição de, no máximo, dois irmãos-completos e três meios-irmãos, para machos, e três irmãs-completas, para fêmeas, por ter obtido os maiores ganhos genéticos, é indicado como estratégia de seleção a ser adotada nestas populações; há incremento dos níveis de consanguinidade em núcleo de produção fechado com o aumento das perdas produtivas e reprodutivas; as perdas produtivas e reprodutivas reduzem as variâncias dos valores genéticos e, principalmente, as intensidades de seleção, reduzindo os ganhos genéticos; ações que maximizem as taxas de parição são preponderantes àquelas que minimizem as taxas de mortalidade na lactação, tendo em vista que a redução na taxa de parição simulada, resultou em maiores perdas nos ganhos genéticos.

<p>Cervical cancer is a multifactorial disease. Infection by oncogenic types of the human papillomavirus (HPV) is the major environmental risk factor and host genetic susceptibility also influences disease development. </p><p>The aim of this thesis is to identify and analyse risk genes involved in the genetic predisposition to cervical carcinoma. A unique and extensive population-based affected sib-pair (ASP) material and a large case-control sample were used in the investigations.</p><p>In paper I the human leukocyte antigen (HLA) class II DQB1 and DRB1 loci are confirmed, for the first time in a family-based material, as genetic susceptibility factors for cervical cancer. It is also proposed that the HLA class II DPB1 locus independently contributes to risk of developing disease. In addition, no evidence is found for an involvement of the class I HLA-B and HLA-A loci in the genetic predisposition. Paper II conclude that the Fas receptor –670 single nucleotide polymorphism (SNP) do not have a major impact on the susceptibility to cervical carcinoma <i>in situ</i> in the Swedish population. In paper III we show that interactions between the HPV16 E6 gene subtype and host HLA class II genotype potentially occur during infection and disease progression. Paper IV suggests that three chromosomal regions, 9q32, 12q24 and 16q24, contain risk factors of low to moderate effects on cervical cancer development. In paper V linkage signals are further identified between a 9q32 gene encoding the thymic stromal co-transporter (TSCOT) and the disease in ASPs with mean age over 30.5 years at diagnosis within the sib-pair.</p><p>These findings are important contributions towards understanding more about the aetiology of this complex cancer. The identification of new susceptibility regions opens up for further characterisation, replication and candidate gene analysis.</p>

Cervical cancer is a multifactorial disease. Infection by oncogenic types of the human papillomavirus (HPV) is the major environmental risk factor and host genetic susceptibility also influences disease development. The aim of this thesis is to identify and analyse risk genes involved in the genetic predisposition to cervical carcinoma. A unique and extensive population-based affected sib-pair (ASP) material and a large case-control sample were used in the investigations. In paper I the human leukocyte antigen (HLA) class II DQB1 and DRB1 loci are confirmed, for the first time in a family-based material, as genetic susceptibility factors for cervical cancer. It is also proposed that the HLA class II DPB1 locus independently contributes to risk of developing disease. In addition, no evidence is found for an involvement of the class I HLA-B and HLA-A loci in the genetic predisposition. Paper II conclude that the Fas receptor –670 single nucleotide polymorphism (SNP) do not have a major impact on the susceptibility to cervical carcinoma in situ in the Swedish population. In paper III we show that interactions between the HPV16 E6 gene subtype and host HLA class II genotype potentially occur during infection and disease progression. Paper IV suggests that three chromosomal regions, 9q32, 12q24 and 16q24, contain risk factors of low to moderate effects on cervical cancer development. In paper V linkage signals are further identified between a 9q32 gene encoding the thymic stromal co-transporter (TSCOT) and the disease in ASPs with mean age over 30.5 years at diagnosis within the sib-pair. These findings are important contributions towards understanding more about the aetiology of this complex cancer. The identification of new susceptibility regions opens up for further characterisation, replication and candidate gene analysis.

Recent studies suggest a possible correlated evolution of wing morphology, wing beat frequency, muscle biochemistry and flight metabolic rate in bees. In order to investigate the degree to which natural selection can act on these traits, an estimation of heritability was required. Commercial and laboratory reared colonies from wild caught queens were used to estimate narrow-sense (h2) and broad-sense (H2) heritability of flight metabolic rate and its associated traits in the bumblebee Bombus impatiens. h2 estimates obtained from parent-offspring regressions were not statistically significant. H2 estimates were significant for morphological traits (body mass and wing morphology) as well as whole-animal traits (flight and resting metabolic rate, wing beat frequency) in both populations. We suggest that queens have a decrease in flight performance as a result of a trade-off between flight and fecundity, explaining the lack of significance in parent-offspring regressions.

Recent studies suggest a possible correlated evolution of wing morphology, wing beat frequency, muscle biochemistry and flight metabolic rate in bees. In order to investigate the degree to which natural selection can act on these traits, an estimation of heritability was required. Commercial and laboratory reared colonies from wild caught queens were used to estimate narrow-sense (h2) and broad-sense (H2) heritability of flight metabolic rate and its associated traits in the bumblebee Bombus impatiens. h2 estimates obtained from parent-offspring regressions were not statistically significant. H2 estimates were significant for morphological traits (body mass and wing morphology) as well as whole-animal traits (flight and resting metabolic rate, wing beat frequency) in both populations. We suggest that queens have a decrease in flight performance as a result of a trade-off between flight and fecundity, explaining the lack of significance in parent-offspring regressions.

The significance of urban areas for military operations is increasing due to the proliferation of cities and the amount of people living in them; armed forces must, to a higher degree, fight in these urban areas in the future. This essay highlights that, despite the increasing importance of urban areas for armed forces, there is a lack of developed theory regarding how armed forces fight in urban areas and how tactics, techniques, and procedures result in casualties. Using previous research on urban warfare, this essay posits three hypotheses and applies these on exercises from the Swedish Armed Forces’ training area for military operations in urban terrain.        The results show that mortars are responsible for a large number of the casualties incurred during the exercises. When exercises involve vehicles the combat ranges, at which casualties are suffered, are longer in comparison to exercises without vehicles. A small percentage of casualties are suffered in close-quarters combat. Finally, the essay elaborates on the meaning of the results and offer some possible explanations that also are suitable for further research. It concludes that further research is warranted, especially regarding close-quarters combat and the use of hand grenades.