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Rozprawy doktorskie na temat „Risk variants”

Autor: Grafiati

Data publikacji: 21 grudnia 2024

Data aktualizacji: 31 lipca 2025

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1

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.

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This thesis includes work on the genetics of intestinal inflammatory disorders, concentrating on coeliac disease and Crohn’s disease. It explores how common genetic variants influence risk of complex phenotypes including immunological intolerance to gluten (coeliac disease) and intolerance to therapeutic agents (azathioprine and mercaptopurine) used in the treatment of intestinal inflammatory diseases. Finally it presents work aiming to move from genetic associations with complex phenotypes to understanding of how these variants modulate immunological processes. Results of a large genome wide

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Winton, 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.

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Corneal transplantation is the oldest, most common and usually the most successful type of solid tissue allograft. The acceptancc of corneal allografts compared to other categories of allografts is called immune privilege. However, some conditions rob the corneal allograft of its immune privilege and promote rejection, which remains the leading cause of corneal graft failure. The precise immune mechanism underlying graft failure is incompletely understood. While differences in human leukocyte antigen (HLA) molecules between donor and host contribute to the alloreactivity driving the donor-anti

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Cameli, Cinzia <1988&gt. "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.

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The main focus of my PhD has been the analysis of rare and common variants in genetic susceptibility to two complex traits: nicotine dependence (ND) and cluster headache (CH). Firstly, we conducted a genetic study to investigate the role of genetic variation at CHRNA7 and CHRFAM7A in smoking phenotypes, and to test the hypothesis that 7nAChR variation may modulate the efficacy of varenicline in smoking cessation. The study was performed on 408 regular tobacco smokers, recruited at smoking cessation centers, including 142 individuals treated with varenicline. We determined the CHRNA7 and CHRF

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Zhao, Jing. "Rare and common genetic variant associations with quantitative human phenotypes." Diss., Georgia Institute of Technology, 2015. http://hdl.handle.net/1853/53923.

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This dissertation aims at investigating the association between genotypes and phenotypes in human. Both common and rare regulatory variants have been studied. The phenotypes include disease risk, clinical traits and gene expression levels. This dissertation describes three different types of association study. The first study investigated the relationship between common variants and three sub-clinical traits as well as three complex diseases in the Center for Health Discovery and Well Being study (CHDWB). The second study is GWAS analysis of TNF-α and BMI/CRP conducted as a contribution to met

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Song, Ci, Nancy L. Pedersen, Chandra A. Reynolds, 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.

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Background: Circulating lipids levels, as well as several familial lipid metabolism disorders, are strongly associated with initiation and progression of atherosclerosis and incidence of myocardial infarction (MI). Objectives: We hypothesized that genetic variants associated with circulating lipid levels would also be associated with MI incidence, and have tested this in three independent samples. Setting and Subjects: Using age- and sex-adjusted additive genetic models, we analyzed 554 single nucleotide polymorphisms (SNPs) in 41 candidate gene regions proposed to be involved in lipid-related

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6

Eggert, 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.

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Uterine leiomyomata (UL), commonly known as fibroids, are a major public health problem given their extreme prevalence (>70%), severity of associated symptoms, and indication for hysterectomies in women of reproductive age. Familial aggregation and twin studies have provided evidence for a genetic component to predisposition to develop UL. To date, a small number of genes involved in UL biology, including HMGA2, have been discovered through cytogenetic studies of the tumors. HMGA2 is involved in recurrent translocations in UL and a TC repeat polymorphism in the gene is associated with UL diagn

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West, 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/.

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The main aim of this thesis was to uncover common low penetrance variants that influence susceptibility to colorectal cancer (CRC). This was largely considered in relation to the analysis of the plethora of genetic data from our large genome‐wide association study. My work includes fine‐mapping of associated loci through additional genotyping, gene screening, and imputation for the prediction of untyped SNPs, which improved the resolution for fine-mapping and facilitated meta-analysis with datasets typed on different arrays. This led to the identification of 14 independent risk loci, while an

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Hamdi, 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.

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Le cancer du sein est la néoplasie la plus fréquente chez la femme. Un ensemble de facteurs génétiques et environnementaux sont impliqués dans cette maladie complexe. Dans le cadre de mes études doctorales, je me suis intéressée à la composante génétique associée au risque de cancer du sein chez les femmes dans la population générale ainsi qu’à la modification du risque pour ce cancer chez des porteuses de mutations des gènes BRCA1 et BRCA2. Actuellement, environ la moitié de cette composante génétique est expliquée par une combinaison d'allèles à pénétrance faible, moyenne ou élevée. En outre

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9

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.

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Congenital heart disease (CHD) is the most common congenital malformation with a birth prevalence of 7/1000. CHD may occur as Mendelian syndromic disorders or as isolated conditions. The latter represent the majority (~80%) of CHD cases. Recent technological advancements have allowed large-scale genome-wide characterization of copy number variants (CNVs), which have been proposed to contribute to the risk of sporadic CHD. This thesis presents a genome-wide CNV study involving 2256 sporadic, isolated CHD patients, 283 trio CHD families, and 1538 ancestry-matched controls that were typed on the

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Kvaskoff, Marina. "Endometriosis and naevus-associated gene variants in relation to risk of cutaneous melanoma." Paris 11, 2009. http://www.theses.fr/2009PA11T090.

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Abelson, 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.

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Zhang, 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.

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Matura, Marek. "Výběr dodavatele reklamních předmětů v mezinárodní společnosti." Master's thesis, Vysoká škola ekonomická v Praze, 2014. http://www.nusl.cz/ntk/nusl-193256.

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The aim of this thesis is analysis and resolution of the decision-making problem "selection of merchandising and gifts supplier in an international company" using multi-criteria decision process while respecting risk. The goal of this thesis is to select a suitable supplier and offer recommendation to company's management for solving similar decision processes. The theoretical part of the thesis describes the knowledge base of methods and procedures of decision analysis that are later applied in the practical part of the thesis on the specific project with aim to optimize the decision-making p

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Lee, 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.

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Polycyclic aromatic hydrocarbons (PAHs) are created by the incomplete combustion of fossil fuels, and are established human carcinogens. However, the effect of occupational PAH exposure on breast cancer is not well established. In addition, it is not known if genes involved in metabolizing xenobiotic compounds modify the risk of breast cancer in women exposed to PAHs. The objectives of this study were to (1) estimate the association between PAH exposure and breast cancer, (2) examine how variants of select xenobiotic metabolizing genes influence breast cancer risk, and (3) assess how these var

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Landgraf, Kathrin, Markus Scholz, Peter Kovacs, Wieland Kiess, and 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.

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Background: Genome-wide association studies have identified variants within the FTO (fat mass and obesity associated) locus as the strongest predictors of obesity amongst all obesity-associated gene loci. Recent evidence suggests that variants in FTO directly affect human adipocyte function through targeting IRX3 and IRX5 and thermogenesis regulation. Aim: We addressed the relevance of this proposed FTO-IRX pathway in adipose tissue (AT) of children. Results: Expression of IRX3 was higher in adipocytes compared to SVF. We found increased adipocyte-specific expression of IRX3 and IRX5 with the

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16

Ostrom, 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.

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Quaye, 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/.

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Combinations of common germline low-moderate susceptibility alleles may be responsible for some of the 90% of ovarian cancer (OC) cases not explained by known risk genes. These alleles may also affect survival of OC patients. The effects of 34 tagging single nucleotide polymorphisms (tSNPs) from candidate oncogenes (BRAF, ERBB2, KRAS, NMI and PIK3CA) and 63 tSNPs from “functionally” relevant genes (AIFM2, AKTIP, AXIN2, CASP5, FILIP1L, RBBP8, RGC32, RUVBL1 and STAG3) on the risk and survival of OC sufferers were evaluated with ~1,800 cases and 3,045 controls. Associations were found between dis

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Wunnenburger, Sebastian [Verfasser], and 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.

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Herraiz, 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.

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Background Ageing is a risk factor that promotes common cardiovascular diseases such as atrial fibrillation (AF) or heart failure (HF), which in turn are associated with pathological changes in intracellular calcium homeostasis. However, the effects that ageing could have on the calcium homeostasis in human atrial cardiomyocytes are not well known. Furthermore, genetic risk variants at single nucleotide polymorphisms (SNPs) associated with a higher incidence of AF have been identified in the chromosomal region 4q25, close to the locus of the Pitx2 transcription factor that plays an importan

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Hulur, Imge, Eric R. Gamazon, Andrew D. Skol, et al. "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.

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BACKGROUND: Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) associated with diseases of the colon including inflammatory bowel diseases (IBD) and colorectal cancer (CRC). However, the functional role of many of these SNPs is largely unknown and tissue-specific resources are lacking. Expression quantitative trait loci (eQTL) mapping identifies target genes of disease-associated SNPs. This study provides a comprehensive eQTL map of distal colonic samples obtained from 40 healthy African Americans and demonstrates their relevance for GWAS of colonic d

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Barnes, 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.

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Ong, Kwok-leung, and 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.

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Loh, 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.

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Rodriguez, 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.

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This project aimed to identify novel genetic risk variants associated with migraine in the Norfolk Island population. Statistical analysis and bioinformatics approaches such as polygenic modeling and gene clustering methods were carried out to explore genotypic and expression data from high-throughput techniques. This project had a particular focus on hormonal genes and other genetic variants and identified a modest effect size on the migraine phenotype.

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Rinckleb, 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.

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Walton, Esther, Daniel Geisler, Johannes Hass, 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.

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The neural mechanisms underlying genetic risk for schizophrenia, a highly heritable psychiatric condition, are still under investigation. New schizophrenia risk genes discovered through genome-wide association studies (GWAS), such as neurogranin (NRGN), can be used to identify these mechanisms. In this study we examined the association of two common NRGN risk single nucleotide polymorphisms (SNPs) with functional and structural brain-based intermediate phenotypes for schizophrenia. We obtained structural, functional MRI and genotype data of 92 schizophrenia patients and 114 healthy volunteers

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Walton, Esther, Daniel Geisler, Johannes Hass, 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.

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The neural mechanisms underlying genetic risk for schizophrenia, a highly heritable psychiatric condition, are still under investigation. New schizophrenia risk genes discovered through genome-wide association studies (GWAS), such as neurogranin (NRGN), can be used to identify these mechanisms. In this study we examined the association of two common NRGN risk single nucleotide polymorphisms (SNPs) with functional and structural brain-based intermediate phenotypes for schizophrenia. We obtained structural, functional MRI and genotype data of 92 schizophrenia patients and 114 healthy volunteers

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Elves, 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.

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Schizophrenia is a complex disorder affecting 1% of the population and is highly heritable, but the majority of contributing genetic factors has remained elusive. Current risk estimates for clinical practice are primarily determined by family history and associated empirical risk. Copy number variants (CNVs) may hold the key to explaining the missing heritability in schizophrenia research; schizophrenia risk estimates as high as 30% have been found for the most-studied CNV associated with schizophrenia, 22q11. Currently, there are methods to identify CNVs though previously collected data from

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Sekar, 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.

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The human genome's strongest influences on two common diseases, systemic lupus erythematosus (SLE) and schizophrenia, arise from genetic variation in the Human Leukocyte Antigen (HLA) locus. However, the genes and functional alleles driving these genetic relationships have remained unknown. We hypothesized that a complex, multi-allelic form of structural variation in the Complement component 4 (C4) gene, within the HLA locus, underlies these relationships. Loci that exist in many structural forms and vary widely in copy number have been difficult to analyze molecularly. As a result,

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Palles, 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.

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Kastler, 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.

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Mauduit, 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.

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La maladie rénale chronique est une pathologie complexe aux nombreuses étiologies et susceptible de conduire à une insuffisance chronique terminale (IRCT), c’est-à-dire une incapacité des reins à filtrer le sang, une fonction essentielle au fonctionnement de l’organisme humain. La transplantation rénale constitue le meilleur traitement de l’IRCT. Si les taux de survie du greffon rénal à court terme sont désormais satisfaisants (plus de 90% à 1 an en France), la survie à moyen et long terme n’est pas encore optimale (autour de 60% à 5 ans en France). Bien que la compatibilité HLA ait été associ

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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.

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International 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 fract

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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.

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Els 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

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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.

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Background. Epithelial ovarian cancer (EOC) and age of natural menopause (ANM) are two complex traits impacting women’s health. ANM is also an important EOC risk factor. Insight into genetic factors influencing EOC and ANM could provide novel entry points for understanding EOC pathogenesis, and the normal process of ovarian aging. Methods. A two-stage genome-wide association study (GWAS) design using DNA pooling in Stage 1 was used to discover single nucleotide polymorphisms (SNPs) associated with histology-specific EOC risk, and population-specific variation in ANM. SNP-trait associations d

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Permuth, 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.

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Epithelial ovarian cancer (EOC) is a leading cause of morbidity and mortality among women in the United States, and the etiology is incompletely understood. Common, low penetrant genetic variants such as single nucleotide polymorphisms (SNPs) likely contribute to a significant proportion of EOC. We examined whether SNPs in two understudied yet biologically important types of genes, mitochondrial-related and miRNA-related genes, may contribute to EOC susceptibility using data from a large, homogeneous study population of 1,815 EOC cases and 1,900 controls (frequency-matched on age-group and rac

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Villani, 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.

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The gastro-intestinal (GI) tract represents the largest surface of the body and is continuously exposed to the microbial environment. In such anatomy, the survival of the host requires that the intestinal microbial flora be contained without excessive immune-reactivity to commensal bacteria while retaining the ability to respond to episodic pathogens. The discriminative recognition between beneficial commensal bacteria and potentially harmful pathogens demands an accurate interpretation by the GI mucosal immune system. Any defects in the processes of innate immune recognition and killing may l

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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.

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Thesis (Ph. D.)--University of North Carolina at Chapel Hill, 2009.<br>Title 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.

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Castelot, Romain. "Etude des mécanismes physiοpathοlοgiques de la maladie d'Alzheimer : appοrt de l'étude des variants du gène SΟRL1". Electronic Thesis or Diss., Normandie, 2024. http://www.theses.fr/2024NORMR078.

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La maladie d'Alzheimer (MA) est la principale cause de démence dans le monde. Elle se caractérise par des dégénérescences neurofibrillaires (DNF) intraneuronales, constituées de filaments de Tau hyperphosphorylés, et des dépôts extracellulaires de peptide amyloïde bêta (Aβ) dans le cerveau des patients. Le gène SORL1, qui code pour la protéine SorLA, est un facteur de risque majeur de la MA. Physiologiquement, SorLA régule la production et la dégradation du peptide Aβ, jouant un rôle crucial dans la modulation des niveaux d’Aβ dans les neurones. Grâce à des modèles cellulaires d’iPSC et de neu

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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.

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Vallée, 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.

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Des mutations germinales dans les gènes majeurs du cancer du sein BRCA1 et BRCA2 sont responsables de la maladie chez les patientes cumulant histoire familiale et apparition du cancer à un jeune âge. Environ 15% des femmes testées pour les mutations de BRCA1 et BRCA2 sont porteuses d’une mutation clairement pathogénique dans un des deux gènes. Cependant, des variants de signification clinique incertaine (VUS pour "variants of uncertain clinical significance") sont détectés dans 5% à 15% des cas testés. Pour évaluer la signification clinique des VUS, le Breast cancer Infomation Core (BIC) a dév

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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.

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BRUCATO, 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.

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Maclagan, 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.

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Small-for-gestational age (SGA) births are defined as babies who are born at less than the 10th percentile of weight for their sex and gestational age based on population growth standards1. SGA babies may be at risk for type II diabetes, cardiovascular disease, and hypertension later in life, although the exact biological mechanisms behind SGA birth are not fully understood1. Paraoxonase 1 (PON1) genetic variants are known to influence the ability of PON1 enzymes to prevent oxidative damage by hydrolyzing phospholipids, lipid peroxide by-products, and amino acid by-products such as homocystein

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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.

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Zhang, 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.

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Jung, Su Yon, Thomas Rohan, Howard Strickler, et al. "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.

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Genetic variants and traits in metabolic signaling pathways may interact with lifestyle factors such as obesity, physical activity, and exogenous estrogen (E), influencing postmenopausal colorectal cancer (CRC) risk, but these interrelated pathways are not fully understood. In this case-cohort study, we examined 33 single-nucleotide polymorphisms (SNPs) in genes related to insulin-like growth factor-I (IGF-I)/insulin resistance (IR) traits and signaling pathways, using data from 704 postmenopausal women in Women's Health Initiative Observation ancillary studies. Stratifying by the lifestyle mo

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Sečkárová, 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.

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The goal of ZOFF is formulated as a change of stagnation and increase in annual profit in term of 2 years, provided adequate low risk. The paper describes the outcomes and conclusions from a marketing research that highlights the key attributes of the company and its target audience. Way out of the situation lies in identifying the problem and its subsequent formulation. To achieve the objective are used various methods of creation and comparison of the criteria which define variants created. This process comprises a decision matrix for identification and comparison of risk scenarios. The outp

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Swanepoel, 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.

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Introduction: In Africa, it is estimated that cardiovascular disease (CVD) will affect approximately 1.3 million people per annum over the following 20 years. C-reactive protein (CRP) is a predictor of CVD risk and certain CRP gene polymorphisms can result in altered CRP concentrations. The distribution of CRP gene polymorphisms is ethnic-specific and extrapolating information from other populations to the black South African population, reported to harbour considerable genetic variation, should be avoided. This highlights the fact that genetic research among black South Africans is necessary.

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Berner, Daniel [Verfasser], Ursula [Akademischer Betreuer] Schlötzer-Schrehardt, and 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.

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