Dissertationen zum Thema „Risk variants“
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Dubois, Patrick Charles Alexander. „Genetic risk variants in intestinal inflammatory disorders“. Thesis, Queen Mary, University of London, 2010. http://qmro.qmul.ac.uk/xmlui/handle/123456789/704.
Der volle Inhalt der QuelleWinton, Helen Louise. „Inflammation related genetic variants in high risk corneal transplantation“. Thesis, University of Bristol, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.617796.
Der volle Inhalt der QuelleCameli, Cinzia <1988>. „Investigation of genetic risk variants for nicotine dependence and cluster headache“. Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amsdottorato.unibo.it/8583/1/Cinzia_Cameli_PhD_Thesis.pdf.
Der volle Inhalt der QuelleZhao, Jing. „Rare and common genetic variant associations with quantitative human phenotypes“. Diss., Georgia Institute of Technology, 2015. http://hdl.handle.net/1853/53923.
Der volle Inhalt der QuelleSong, Ci, Nancy L. Pedersen, Chandra A. Reynolds, Maria Sabater-Lleal, Stavroula Kanoni, Christina Willenborg, Ann-Christine Syvänen et al. „Genetic Variants from Lipid-Related Pathways and Risk for Incident Myocardial Infarction“. Uppsala universitet, Molekylär medicin, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-200108.
Der volle Inhalt der QuelleEggert, Stacey Lynn. „Identification and Characterization of Genetic Variants Conveying Risk to Develop Uterine Leiomyomata“. Thesis, Harvard University, 2011. http://dissertations.umi.com/gsas.harvard:10005.
Der volle Inhalt der QuelleWest, S. L. „The search for genetic variants that influence the risk of colorectal cancer“. Thesis, University College London (University of London), 2011. http://discovery.ucl.ac.uk/1302552/.
Der volle Inhalt der QuelleHamdi, Yosr. „Evaluation of the association between common genetic variants and breast cancer risk“. Doctoral thesis, Université Laval, 2017. http://hdl.handle.net/20.500.11794/28384.
Der volle Inhalt der QuelleBreast cancer is the most common malignancy in women. A set of environmental and genetic factors are involved in this complex disease. This project focused on the genetic components of breast cancer susceptibility and breast cancer risk modification in BRCA1 and BRCA2 mutation carriers. Currently, about half of the inherited susceptibility to breast cancer can be imputed to a combination of high-, intermediate-, and low-risk alleles. Thus, many as yet unknown susceptibility loci remain to be identified. Moreover, recent studies have provided evidence for the involvement of genetic risk factors that might considerably modify the risk of developing breast cancer in BRCA1 and BRCA2 mutation carriers. Furthermore, genome-wide association studies have shown that several genetic variants within non-coding gene regions are associated with breast cancer risk. In this project, we focused on regulatory gene variants and their association with breast cancer risk. The project was divided in two parts. In the first section, we evaluated the direct association between single-nucleotide polymorphisms associated with differential allelic expression and breast cancer risk in order to identify new loci of breast cancer susceptibility. In the second part, we evaluated the functional impact on gene expression of variants identified within the promoter regions of selected candidate genes and then, characterize the functional impact of these variants. In summary, the first part of this project has led to the identification of a new low-penetrance locus associated with breast cancer risk on the 4q21 locus (rs11099601; odds ratio=1.05, p= 6.4 x 10-6), and two new modifiers of breast cancer risk in BRCA1 mutations carriers (11q22.3 locus and the wild type allele of BRCA1). The second part of the project allowed us to describe new functional variants within the promoters of the selected breast cancer gene candidates. Other association studies in larger cohorts and further functional analysis will be required to confirm these results, which will allow their inclusion in breast cancer risk prediction tools and thus ensure a more accurate estimation of breast cancer risk.
Soemedi, Rachel. „Contribution of copy number variants to the risk of sporadic congenital heart disease“. Thesis, University of Newcastle Upon Tyne, 2012. http://hdl.handle.net/10443/1740.
Der volle Inhalt der QuelleKvaskoff, Marina. „Endometriosis and naevus-associated gene variants in relation to risk of cutaneous melanoma“. Paris 11, 2009. http://www.theses.fr/2009PA11T090.
Der volle Inhalt der QuelleAbelson, Anna-Karin. „Genetic Risk Factors for Systemic Lupus Erythematosus : From Candidate Genes to Functional Variants“. Doctoral thesis, Uppsala : Universitetsbiblioteket [distributör], 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-9367.
Der volle Inhalt der QuelleZhang, Cuilin. „Variants in the lipoprotein lipase gene and paraoxonase gene and risk of preeclampsia /“. Thesis, Connect to this title online; UW restricted, 2003. http://hdl.handle.net/1773/10879.
Der volle Inhalt der QuelleMatura, Marek. „Výběr dodavatele reklamních předmětů v mezinárodní společnosti“. Master's thesis, Vysoká škola ekonomická v Praze, 2014. http://www.nusl.cz/ntk/nusl-193256.
Der volle Inhalt der QuelleLee, Derrick Guang-Yuh. „Occupational exposure to polycyclic aromatic hydrocarbons, breast cancer risk, and interactions with genetic variants“. Thesis, University of British Columbia, 2016. http://hdl.handle.net/2429/60291.
Der volle Inhalt der QuelleMedicine, Faculty of
Population and Public Health (SPPH), School of
Graduate
Landgraf, Kathrin, Markus Scholz, Peter Kovacs, Wieland Kiess und Antje Körner. „FTO obesity risk variants are linked to adipocyte IRX3 expression and BMI of children“. Universitätsbibliothek Leipzig, 2016. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-213844.
Der volle Inhalt der QuelleOstrom, Quinn T. „Leveraging Demographic Differences in Incidence for Discovery and Validation of Risk Variants in Glioma“. Case Western Reserve University School of Graduate Studies / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=case1512648756503687.
Der volle Inhalt der QuelleQuaye, L. „Identifying common genetic variants associated with disease risk and clinical outcome in epithelial ovarian cancer“. Thesis, University College London (University of London), 2011. http://discovery.ucl.ac.uk/1310441/.
Der volle Inhalt der QuelleWunnenburger, Sebastian [Verfasser], und Anna [Akademischer Betreuer] Köttgen. „Associations between known genetic risk variants and CKD stage and etiology in the GCKD study“. Freiburg : Universität, 2018. http://d-nb.info/1153335662/34.
Der volle Inhalt der QuelleHerraiz, Martínez Adela. „Effects of ageing and genetic risk variants at 4q25 on the calcium homeostasis in cardiac myocytes“. Doctoral thesis, Universitat de Barcelona, 2016. http://hdl.handle.net/10803/401751.
Der volle Inhalt der QuelleAntecedentes El envejecimiento es un factor de riesgo que favorece enfermedades cardiovasculares comunes como la fibrilación auricular (FA) o la insuficiencia cardíaca (IC), que a la vez se asocian a cambios patológicos en la homeostasis intracelular de calcio. Sin embargo, no se conocen los efectos que el envejecimiento puede tener sobre los mecanismos de la homeostasis del calcio en cardiomiocitos auriculares humanos. Por otro lado, se han descrito variantes de riesgo genéticas asociadas a la FA en la región cromosómica 4q25, próximas al factor de transcripción Pitx2 que tiene un papel importante en el desarrollo cardíaco embrionario. En el corazón adulto Pitx2 se ha asociado a predisposición a arritmias auriculares, pero la relación que existe entre los variantes de 4q25 y la función de Pitx2 es controvertida. Además, se desconocen los efectos que los variantes de riesgo 4q25 tienen sobre la homeostasis del calcio. Por ello, en esta tesis se han investigado los mecanismos que pueden subyacer a los dos factores de riesgo envejecimiento y variantes de riesgo en 4q25. Hipótesis El envejecimiento y las variantes de riesgo en 4q25 producen alteraciones en la homeostasis del calcio intracelular en miocitos auriculares, que por sí solas o en combinación contribuyen a aumentar la propensión a la fibrilación auricular. Objetivos * Analizar los efectos del envejecimiento en los mecanismos que regulan la homeostasis del calcio en miocitos auriculares humanos. * Utilizar modelos murinos transgénicos de envejecimiento para identificar los mecanismos moleculares que subyacen a los cambios en la homeostasis del calcio debido al envejecimiento. * Investigar cómo las variantes de riesgo en el cromosoma 4q25 asociadas con un mayor riesgo de FA, afectan a las características electrofisiológicas de los miocitos auriculares humanos e identificar los mecanismos moleculares subyacentes. * Investigar como la edad modula los efectos de las variantes de riesgo en 4q25 en miocitos auriculares humanos. Métodos Los experimentos se llevaron a cabo en células auriculares o ventriculares aisladas de humano o de los distintos modelos murinos. Mediante las técnicas de patch-clamp y microscopía confocal se obtuvieron los datos electrofisiológicos. Las técnicas de RT-PCR y western blot se usaron para determinar los niveles de las proteínas estudiadas. Resultados Los resultados de esta tesis muestran que el envejecimiento disminuye la corriente de calcio (ICa), parámetro electrofisiológico que también está reducido en la FA, así como del contenido de calcio del retículo sarcoplásmico (RS), del calcio transitorio global y de las principales proteínas reguladoras del calcio, lo que conjuntamente podría reducir la contracción auricular en los ancianos. Estos resultados fueron reproducidos en modelo animal de envejecimiento prematuro (Zmpste24-/-) que no procesan correctamente la proteína lamina, reforzando la noción que este mecanismo podría subyacer a los efectos del envejecimiento sobre la homeostasis del calcio en las miocitos cardíacos. Además se encontró que en pacientes con previa historia de FA, el envejecimiento tenía un efecto sumatorio sobre algunos efectos deteriorantes de la FA sobre el manejo de calcio, acentuando así a disminución de la ICa con la edad. El estudio de las variantes de riesgo en el cromosoma 4q25 muestra que la variante de riesgo rs13143308T por sí sola o junto con rs2200733T están asociadas a alteraciones electrofisiológicas típicas de la FA. Así, miocitos de pacientes portadores de estas variantes tenían una mayor frecuencia de liberación espontánea de calcio, corrientes de entrada transitorias (ITIs) y despolarizaciones de membrana espontaneas. Estos resultados son los primeros en proporcionar un mecanismo electrofisiológico que podría explicar la mayor incidencia de FA en individuos con variantes de riesgo en 4q25. Estudios electrofisiológicos en miocitos auriculares de un modelo de ratón con deficiencia auricular de Pitx2 (NppaCre+Pitx2fl/-) reproduce todas las alteraciones en la homeostasis del calcio observados en pacientes con variantes de riesgo 4q25. Estos resultados avalan la noción de que la modulación del calcio intracelular por Pitx2 juega un papel importante en procesos electrofisiológicos asociados a la FA. El análisis de potenciales efectos sinérgicos entre variantes de riesgo en 4q25, envejecimiento y la FA revelaba que el envejecimiento per se no modifica los efectos que tiene las variantes 4q25 sobre la homeostasis del calcio. Sin embargo, dado que el envejecimiento reduce la amplitud de la ICa, lo cual reduciría el periodo refractario auricular, podría favorecer la prolongación o el mantenimiento de episodios de arritmia inducidas por actividad eléctrica espontanea. Por lo tanto, es posible que las variantes de riesgo 4q25 constituyan un sustrato electrofisiológico arritmogénico que favorece el inicio de episodios arrítmicos auriculares, y que el envejecimiento actúe prolongando la duración de estos episodios al reducir el periodo refractario auricular a través de la reducción de la amplitud de la ICa. Conclusiones El envejecimiento modula la homeostasis del calcio en miocitos auriculares humanos mediante la disminución de la Ica, del calcio transitorio y del calcio acumulado en el RS. Estos cambios favorecen por un lado el deterioro progresivo de la función contráctil con la edad, y por otro el acortamiento del período refractario mediado por la reducción de la amplitud de la ICa. El modelo murino Zmpste24-/- reproduce los efectos observados reforzando el mecanismo propuesto. Las variantes de riesgo localizadas en la región cromosómica 4q25, concretamente rs13143308 por sí sola o junto con rs2200733, aumentan la liberación espontánea de calcio, ITI y despolarizaciones de la membrana, parámetros característicos de la FA, pudiendo originar eventos arrítmicos en pacientes portadores de las variantes de riesgo. El modelo murino con deficiencia parcial de Pitx2 (NppaCre+Pitx2fl/-) reproduce lo observado en humanos portadores de las variantes de riesgo, reforzando la idea de Pitx2 como nexo entre las variantes de riesgo 4q25 y las alteraciones que provocan en la homeostasis del calcio. La combinación de los efectos encontrados en este estudio propondría a las variantes de riesgo en 4q25 como un substrato arritmogénico que favorece la iniciación de episodios arrítmicos y al envejecimiento como factor que los prolongaría debido a la reducción del período refractario producido por la reducción de la amplitud de la ICa.
Hulur, Imge, Eric R. Gamazon, Andrew D. Skol, Rosa M. Xicola, Xavier Llor, Kenan Onel, Nathan A. Ellis und Sonia S. Kupfer. „Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci“. BioMed Central Ltd, 2015. http://hdl.handle.net/10150/610285.
Der volle Inhalt der QuelleBarnes, Daniel Robert. „Development and application of methods for analysing the associations between genetic variants and cancer risk in individuals at high-risk of developing the disease“. Thesis, University of Cambridge, 2015. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.709359.
Der volle Inhalt der QuelleOng, Kwok-leung, und 王國良. „Genetic variants of obesity- and inflammation-related genes in hypertension: genetic association studiesusing candidate gene approach“. Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B45200555.
Der volle Inhalt der QuelleLoh, Yet Hua. „Diet, MGMT and SMAD7 gene variants and breast, prostate and colorectal cancer risk : results from the EPIC-Norfolk study“. Thesis, University of Cambridge, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.608981.
Der volle Inhalt der QuelleRodriguez, Acevedo Astrid Jannet. „Identification of genetic variants contributing to the migraine phenotype in different Australian populations“. Thesis, Queensland University of Technology, 2015. https://eprints.qut.edu.au/87082/1/Astrid%20Jannet_Rodriguez%20Acevedo_Thesis.pdf.
Der volle Inhalt der QuelleRinckleb, Antje [Verfasser]. „Common germline variants for prostate cancer risk: implication in DNA repair and TMPRSS2-ERG fusion formation / Antje Rinckleb“. Ulm : Universität Ulm. Medizinische Fakultät, 2014. http://d-nb.info/1054996709/34.
Der volle Inhalt der QuelleWalton, Esther, Daniel Geisler, Johannes Hass, Jingyu Liu, Jessica Turner, Anastasia Yendiki, Michael N. Smolka et al. „The Impact of Genome-Wide Supported Schizophrenia Risk Variants in the Neurogranin Gene on Brain Structure and Function“. Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-132122.
Der volle Inhalt der QuelleWalton, Esther, Daniel Geisler, Johannes Hass, Jingyu Liu, Jessica Turner, Anastasia Yendiki, Michael N. Smolka et al. „The Impact of Genome-Wide Supported Schizophrenia Risk Variants in the Neurogranin Gene on Brain Structure and Function“. Public Library of Science, 2013. https://tud.qucosa.de/id/qucosa%3A27422.
Der volle Inhalt der QuelleElves, Rachel L. „Validation of Copy Number Variants Associated with Schizophrenia Risk in an Irish Population and Implications to Clinical Practice“. VCU Scholars Compass, 2013. http://scholarscompass.vcu.edu/etd/3197.
Der volle Inhalt der QuelleSekar, Aswin. „A natural allelic series of complex structural variants and its influence on the risk of lupus and schizophrenia“. Thesis, Harvard University, 2014. http://nrs.harvard.edu/urn-3:HUL.InstRepos:13070061.
Der volle Inhalt der QuellePalles, Claire. „Identification of genetic variants that influence circulating levels of insulin like growth factor 1 and breast cancer risk“. Thesis, London School of Hygiene and Tropical Medicine (University of London), 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.536854.
Der volle Inhalt der QuelleKastler, Silvia [Verfasser]. „On the impact of risk variants in the c-MYC gene region on prostate cancer development / Silvia Kastler“. Ulm : Universität Ulm. Medizinische Fakultät, 2011. http://d-nb.info/1016659628/34.
Der volle Inhalt der QuelleMauduit, Vincent. „Intégration de données génomiques et de compatibilités donneur-receveur pour améliorer la compréhension des mécanismes de perte de l’allogreffe rénale“. Electronic Thesis or Diss., Nantes Université, 2024. http://www.theses.fr/2024NANU1022.
Der volle Inhalt der QuelleChronic kidney disease is a complex multifactorial pathology leading to end-stage renal disease (ESRD), which is characterized by an inability of the kidneys to filter blood. Kidney transplant is currently the best treatment of ESRD both in terms of quality of life and patient survival. Despite satisfying short term survival rates (above 90% in France), mid and long-term survival are not optimal (around 60% at 5 years in France). Even if donor-recipient HLA compatibility was shown to have adverse effects on survival, kidney graft loss underlying mechanisms are not fully understood. This work aims at identifying variants outside of the HLA region associated with kidney graft loss and rejection. It relies on the analysis of genetic data of patients exclusively transplanted in Nantes (n=x). Combining donor and recipient genomes enabled the discovery a new donor-recipient genetic mismatch upstream the TOM1L1 gene associated with kidney graft loss. This signal was replicated in three independent cohorts. Thanks to an unprecedented phenotypic granularity in kidney transplant genetics literature, we described the first genetic profile of isolated microvascular inflammation (iMVI), a poorly defined phenotype, and highlighted a different genetic background from humoral rejection. We also showed that iMVI confers a higher risk of kidney graft loss and reported several genes associated with iMVI, hence contributing to better characterize this outcome
Sušak, Hana 1985. „The Hunt of cancer genes : statistical inference of cancer risk and driver genes using next generation sequencuing data“. Doctoral thesis, Universitat Pompeu Fabra, 2017. http://hdl.handle.net/10803/668447.
Der volle Inhalt der QuelleEls distints projectes internacionals de seqüenciació de càncer duts a terme en els últims anys han generat catàlegs complets d’alteracions trobades en els genomes tumorals, així com informació de variants germinals per a milers d'individus. En aquesta tesi descrivim dos mètodes estadístics aprofitant aquestes bases de dades per tal d’entendre millor la iniciació i la progressió dels tumors, i la contribució de variants genètiques al risc de desenvolupar càncer al llarg de la vida. El primer mètode, anomenat cDriver, es basa en un model d’inferència Bayesià que utilitza múltiples senyals de la selecció positiva que ocorre en els genomes tumorals per tal de predir els gens driver del càncer. En aquest mètode, hem inclòs la fracció de cèl·lules tumorals com a nova senyal de la selecció positiva a nivell cel·lular. Aquesta es basa en la hipòtesi que les cèl·lules que adquireixen mutacions ventajoses proliferaran i s’expandiran clonalment més ràpidament. Per avaluar cDriver, aquest es va comparar amb els mètodes més utilitzats per a la predicció de gens driver actuals. L’anàlisi es va dur a terme amb conjunts de dades de tres càncer diferents i els resultats van ser iguals o millors que els obtinguts per les eines més competitives en el tema. El segon mètode, anomenat REWAS, és un marc de treball per l’estudi d’associació de variants rares (RVAS) amb l'objectiu de millorar la identificació dels gens de predisposició al càncer. Tot i això, REWAS es pot aplicar a qualsevol estudi cas-control de malalties complexes. Per una altra part, a més d'integrar mètodes RVAS ben establerts, hem desenvolupat un nou mètode d'inferència Bayesiana RVAS basat en Integrated Nested Laplace Approximation (BATI). També demostrem que BATI mostra millors resultats que altres mètodes en dades simulades amb soroll de fons real, especialment quan el context biològic (p.e. variants amb impacte funcional) està disponible or quan les variants de risc expliquen en total poca variància fenotípica.
Sušak, Hana 1985. „The Hunt of cancer genes : statistical inference of cancer risk and driver genes using next generation sequencing data“. Doctoral thesis, Universitat Pompeu Fabra, 2017. http://hdl.handle.net/10803/664504.
Der volle Inhalt der QuelleInternational cancer sequencing projects have generated comprehensive catalogs of alterations found in tumor genomes, as well as germline variant data for thousands of individuals. In this thesis, we describe two statistical methods exploiting these rich datasets in order to better understand tumor initiation, tumor progression and the contribution of genetic variants to the lifetime risk of developing cancer. The first method, a Bayesian inference model named cDriver, utilizes multiple signatures of positive selection acting on tumor genomes to predict cancer driver genes. Cancer cell fraction is introduced as a novel signature of positive selection on a cellular level, based on the hypothesis that cells obtaining additional advantageous driver mutations will undergo rapid proliferation and clonal expansion. We benchmarked cDriver against state of the art driver prediction methods on three cancer datasets demonstrating equal or better performance than the best competing tool. The second method, termed REWAS is a comprehensive framework for rare-variant association studies (RVAS) aiming at improving identification of cancer predisposition genes. Nonetheless, REWAS is readily applicable to any case-control study of complex diseases. Besides integrating well-established RVAS methods, we developed a novel Bayesian inference RVAS method (BATI) based on Integrated Nested Laplace Approximation (INLA). We demonstrate that BATI outperforms other methods on realistic simulated datasets, especially when meaningful biological context (e.g. functional impact of variants) is available or when risk variants in sum explain low phenotypic variance. Both methods developed during my thesis have the potential to facilitate personalized medicine and oncology through identification of novel therapeutic targets and identification of genetic predisposition facilitating prevention and early diagnosis of cancer.
Earp, Madalene A. „Genetic studies to discover common variants associated with epithelial ovarian cancer risk and variation in age of natural menopause“. Thesis, University of British Columbia, 2012. http://hdl.handle.net/2429/43765.
Der volle Inhalt der QuellePermuth, Wey Jennifer. „Evaluation of Common Inherited Variants in Mitochondrial-Related and MicroRNA-Related Genes as Novel Risk Factors for Ovarian Cancer“. Scholar Commons, 2010. http://scholarcommons.usf.edu/etd/3488.
Der volle Inhalt der QuelleVillani, Alexandra-Chloé. „Genetic investigation of inflammatory bowel disease and post-infectious irritable bowel syndrome : the contribution of innate immunity candidate risk variants“. Thesis, McGill University, 2009. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=115888.
Der volle Inhalt der QuelleOverall, these results contribute to a better understanding of the genetic susceptibility to CD, DC and PI-IBS and shed light on new pathogenic signaling pathways in the development of these diseases.
Lee, Nanette R. Adair Linda S. „Estimating the effects of overweight duration, sodium intake and genetic variants on hypertension risk among Filipino women in Cebu, Philippines“. Chapel Hill, N.C. : University of North Carolina at Chapel Hill, 2009. http://dc.lib.unc.edu/u?/etd,2468.
Der volle Inhalt der QuelleTitle from electronic title page (viewed Sep. 3, 2009). "... in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the Department of Nutrition, School of Public Health." Discipline: Nutrition; Department/School: Public Health.
Semianiv, M. M. „Hormonal and metabolic risk factors of essential arterial hypertension depending on polymorphic variants of the AGTR1 (rs5186) and VDR (rs2228570) genes“. Thesis, БДМУ, 2022. http://dspace.bsmu.edu.ua:8080/xmlui/handle/123456789/19580.
Der volle Inhalt der QuelleVallée, Maxime. „Design of an internet tool to assess variants of uncertain clinical significance in high-risk breast cancer genes BRCA1 and BRCA2“. Thesis, Lyon 1, 2012. http://www.theses.fr/2012LYO10193.
Der volle Inhalt der QuelleGermline mutations in major breast cancer susceptibility genes BRCA1 and BRCA2 are responsible for the disease for high-risk patients (patients with early onset and familial history of breast cancer). Around 15% of screened women for BRCA1 and BRCA2 mutations carry one clearly pathogenic mutation in one of those two genes. However, variants of uncertain clinical significance (VUS) are detected in 5% to 15% of tested patients. To assess clinical significance of VUS, the Breast cancer Information Core (BIC) has developed a Bayesian integrated model, based on observational data. Align-GVGD, an algorithm evaluating damage of missense substitutions based on the evolutionary history of the protein, is providing the prior probability of the model. However, whenever a silent substitution arise, it is firstly treated as neutral by the in silico assessment. Indeed, a mutation at the mRNA level can disrupt the splicing machinery by two main means: damaging wild-type splice sites, or creating exonic de novo splice sites. Our first goal is to be a central repository of already published variants, to re-analyze them using the unified integrated evaluation model. We would like to extract the most variants from the original published status of VUS to a more informative status, with associated clinical recommendations. Then we would like to extend the model to be able to evaluate more variants more precisely by adding the splicing damages assessment in the integrated evaluation. In the end, we will be able to provide these informations freely on Internet, via a widely use web interface, a Leiden Open Variation Database (LOVD)
MARGARESE, Naomi. „Genetic analysis of BRCA1 and BRCA2 genes in Sicilian high risk families and functional characterization of BRCA1 variants of uncertain significance (VUS)“. Doctoral thesis, Università degli Studi di Palermo, 2014. http://hdl.handle.net/10447/90823.
Der volle Inhalt der QuelleBRUCATO, Federica. „GENETIC MARKERS OF DEVELOPMENT AND PROGRESSION OF THE ATHEROSCLEROSIS. POSSIBLE ROLE OF VARIANTS THAT CHANGE THE INTERACTIONS WITH THE PROTEOGLYCANS AND LIFETIME EXPOSURE TO LIPID RISK FACTORS IN CARDIOVASCULAR HIGH-RISK PATIENTS“. Doctoral thesis, Università degli Studi di Palermo, 2021. http://hdl.handle.net/10447/496050.
Der volle Inhalt der QuelleMaclagan, Laura. „An exploration of the contribution of paraoxonase 1 genetic variants, homocysteine, and nutritional factors on the risk of small-for-gestational age birth“. Thesis, McGill University, 2012. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=106589.
Der volle Inhalt der QuelleLes "naissances de faible poids par rapport à l'âge gestationnel" (Small-for-gestational age; SGA) sont définies comme l'ensemble des bébés qui sont nés avec un poids inférieur au 10ième pourcentile, selon leur sexe et leur âge gestationnel d'après des courbes établies dans la population1. Les bébés SGA peuvent être à risque pour le diabète de type II, les maladies cardiovasculaires et l'hypertension dans leur vie adulte. Les mécanismes biologiques qui déterminent le statut de SGA ne sont pas à ce jour entièrement connus1. Les variants du gène Paraoxonase 1 ( PON1) sont connus pour avoir une influence sur la capacité des enzymes PON1 de prévenir le dommage oxidatif par l'hydrolyse des phospholipides, des produits dérivés des peroxides lipides, et des produits dérivés des acides aminés, tels que l'homocystéine (Hcy)2. Infante-Rivard et coll. ont démontré que ces polymorphismes et les concentrations de Hcy (d'une manière protective inattendue) sont associés aux naissances SGA3-4, Par contre, leur contribution combinée sur le risqué de SGA n'a pas été étudiée. L'objectif de cette thèse est d'explorer les interactions gène-environnement entre trois variants fonctionnels de PON1, diverses concentrations plasmatiques de Hcy et également la consommation alimentaire de folate ainsi que sa supplementation vitaminique sur le risque de naissance SGA.La présente analyse utilise des données d'une étude faite dans un hôpital universitaire de Montréal, Québec. 493 mères de bébés de faible poids ainsi que 472 mères de bébés ayant un poids au dessus du 10ième percentile ont donné leur accord pour y participer. Les cas de naissance SGA ont été observés entre mai 1998 et juin 2000; les témoins étaient appariés pour l'âge gestationnel4, le sexe, et le group ethnique (appropriate-for-gestational-age; AGA). Trois variants génétiques PON1 ont été analysés (C108T, L55M et Q192R). Les concentrations d'homocystéine et les variables nutritionnelles (consommation de lentilles et de supplément vitaminiques) ont été également analysées. Les designs cas-contrôle (case-control), cas-seulement (case-only) et cas-parents (case-parent) ont été utilisés et les résultats analysés avec une regression logistique inconditionelle (unconditional logistic regression) et par des modèles log-linéaires Poisson (Poisson log-linear models).Les résultats indiquent que les mères avec le génotype sauvage PON1 108CC et une concentration élevée (≥90ième pourcentile) pourraient être protégées contre les naissances SGA comparées à celles ayant des concentrations Hcy plus basses (<90ième pourcentile), après ajustement pour l'âge gestationnel, le sexe du foetus et l'ethnicité (OR=0.52, 95% CI [0.25, 1.05]). Cet effet a également été démontré pour le polymorphisme PON1 L55M, dans les modèles maternels et fétaux. Les porteuses de variants homozygotes de PON1, L55M (avec le génotype PON1 55MM et des concentrations élevées d'homocystéine) ont montré un risque de naissance SGA plus élevé que celles avec des concentrations Hcy plus basses (modèle maternel, OR=1.38, 95% CI [0.46, 4.17]). Les polymorphismes PON1 semblent modifier l'effet de la concentration de Hcy sur le risque de naissance SGA, par contre, plus d'investigation sera nécessaire afin de caractériser non seulement cette relation, mais également les mécanismes biologiques sous-jacents.
Henderson, Melissa. „Patient-physician Dialogue Matters: Factors that Impact Medical Management Decisions among Women with Pathogenic Variants in Moderate-penetrance Genes Associated with Hereditary Breast Cancer“. University of Cincinnati / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1554213725302437.
Der volle Inhalt der QuelleZhang, Xiaolu. „Cis-acting Genetic Variants that Alter ERCC5 Regulation as a Prototype to Characterize cis-regulation of Key Protective Genes in Normal Bronchial Epithelial Cells“. University of Toledo Health Science Campus / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=mco1461321386.
Der volle Inhalt der QuelleJung, Su Yon, Thomas Rohan, Howard Strickler, Jennifer Bea, Zuo-Feng Zhang, Gloria Ho und Carolyn Crandall. „Genetic variants and traits related to insulin-like growth factor-I and insulin resistance and their interaction with lifestyles on postmenopausal colorectal cancer risk“. PUBLIC LIBRARY SCIENCE, 2017. http://hdl.handle.net/10150/625969.
Der volle Inhalt der QuelleSečkárová, Adriana. „Rozhodovanie o rozšírení divízie firmy Zoff s.r.o. za účelom zvýšenia ziskovosti podniku“. Master's thesis, Vysoká škola ekonomická v Praze, 2016. http://www.nusl.cz/ntk/nusl-262166.
Der volle Inhalt der QuelleSwanepoel, Bianca. „The relevance of specific c-reactive protein genetic variants towards cardiovascular disease risk in a black South African population undergoing an epidemiological transition / Bianca Swanepoel“. Thesis, North-West University, 2013. http://hdl.handle.net/10394/9700.
Der volle Inhalt der QuelleThesis (MSc (Nutrition))--North-West University, Potchefstroom Campus, 2013.
Berner, Daniel [Verfasser], Ursula [Akademischer Betreuer] Schlötzer-Schrehardt und Johann Helmut [Gutachter] Brandstätter. „Identification and functional characterization of regulatory risk variants and novel pathways for pseudoexfoliation syndrome and glaucoma / Daniel Berner ; Gutachter: Johann Helmut Brandstätter ; Betreuer: Ursula Schlötzer-Schrehardt“. Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2019. http://d-nb.info/1188466860/34.
Der volle Inhalt der QuelleLehmann, Janin [Verfasser], Steffen [Akademischer Betreuer] Emmert, Michael P. [Gutachter] Schön und Steven A. [Gutachter] Johnsen. „Functional relevance of spontaneous alternative splice variants of xeroderma pigmentosum genes: Prognostic marker for skin cancer risk and disease outcome? / Janin Lehmann ; Gutachter: Michael P. Schön, Steven A. Johnsen ; Betreuer: Steffen Emmert“. Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2017. http://d-nb.info/113187563X/34.
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