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Rozprawy doktorskie na temat „Genetic risk factors”

Autor: Grafiati

Data publikacji: 4 czerwca 2021

Data aktualizacji: 25 lipca 2025

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1

Kelempisioti, A. (Anthi). "Genetic risk factors for intervertebral disc degeneration." Doctoral thesis, Oulun yliopisto, 2016. http://urn.fi/urn:isbn:9789526211350.

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Abstract Low back pain (LBP) is the leading cause of years lived with disabilities worldwide. Intervertebral disc (IVD) degeneration is a strong contributing factor to LBP. Recent studies have shown that genetic determinants contribute markedly to IVD degeneration but knowledge about the actual genes involved as well as their roles is still limited. The aim of this thesis work was to study genetic factors that may predispose to IVD degeneration. Using both family and case-control association study designs, variants in five genes showed association with IVD degeneration on magnetic resonance im

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Tilley, Louise. "Genetic risk factors in sporadic Alzheimer's disease." Thesis, University of Nottingham, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.311748.

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Al-Chalabi, Ammar. "Genetic risk factors in amytrophic lateral sclerosis." Thesis, King's College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.321934.

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Burger, Marilize Cornelle. "Genetic risk factors for carpal tunnel syndrome." Doctoral thesis, University of Cape Town, 2014. http://hdl.handle.net/11427/12714.

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Includes bibliographical references.<br>Carpal tunnel syndrome (CTS) is a common occupational injury that is caused by an increase in pressure within the carpal tunnel structure which, in turn, causes compression of the median nerve. Although several factors are believed to be associated with increased risk of CTS, the direct causes of this injury remain unknown and it is generally accepted that CTS, with the exception of acutely caused CTS, is a multifactorial condition. Although it is generally accepted that an increase in pressure within the carpal tunnel structure, which contains nine flex

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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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Beskow, Anna. "Genetic Risk Factors for Cervical Carcinoma in situ." Doctoral thesis, Uppsala universitet, Institutionen för genetik och patologi, 2003. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3318.

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Oncogenic human papillomaviruses (HPVs) are implicated in 99.7 % of cervical cancer cases but require the co-operation of other factors. To investigate potential genetic risk factors we have typed the HLA class II DRB1 and DQB1 loci in 478 women diagnosed with cervical carcinoma in situ and in 608 age-matched controls. Quantitative measurements of HPV 16, HPV 18/45 and HPV 31 were obtained. The DRB1*1501 and DQB1*0602 alleles were found to increase the risk of HPV 16 infection. Carriers of DRB1*1501 and DQB1*0602 were also shown to have an increased risk of a higher viral load compared to non

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Mayosi, B. M. "Genetic determination of cardiovascular risk factors in families." Thesis, University of Oxford, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.249502.

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Maude, Sophia Karen. "An investigation of genetic risk factors for migraine." Thesis, University of Aberdeen, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.248576.

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Migraine manifests itself episodically with incidence ranging from one attack in a lifetime to one almost every day. Most migraineurs suffer from typical migraine with or without aura, that is inherited in a complex manner. A small number of migraineurs suffer from FHM, a condition that exhibits Mendelian inheritance. BFNC is another rare episodic disorder that exhibits Mendelian inheritance. In a four generational family the BFNC phenotype was linked to the KCNQ2 gene on chromosome 20q13.3. Blood samples and epidemiological information were collected from 214 migraine probands in the Grampian

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Posthumus, Michael. "Genetic risk factors for anterior cruciate ligament ruptures." Doctoral thesis, University of Cape Town, 2009. http://hdl.handle.net/11427/3195.

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Includes abstract.<br>Includes bibliographical references (p. 197-215).<br>The primary aim of this thesis was to identify candidate genes that may be associated with ACL ruptures, and then use a genetic association approach following a case-control study design to identify specific sequence variants (single nucleotide polymorphisms, SNPs) within these candidate genes which may predispose individuals to ACL ruptures. Candidate genes (COL1A1, COL5A1 and COL12A1) were selected based on the biological function of their encoded proteins (type I, type V and type XII collagen respectively) within the

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Hughes, Katherine Carlson. "Dietary and Genetic Risk Factors for Parkinson's Disease." Thesis, Harvard University, 2016. http://nrs.harvard.edu/urn-3:HUL.InstRepos:27201728.

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Parkinson’s disease (PD) is the second most common neurodegenerative disease. Motor symptoms typically do not manifest until significant neuronal loss has already occurred, highlighting the need for early detection and prevention. In this dissertation, we sought to improve our understanding of PD epidemiology by studying associations between potential modifiable risk factors, including antioxidant vitamins, dairy products, and urate, and PD risk. We conducted prospective analyses within three large cohort studies: the Nurses’ Health Study, the Health Professionals Follow-up Study, and the Canc

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Ylönen, S. (Susanna). "Genetic risk factors for movement disorders in Finland." Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526223988.

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Abstract Parkinson’s disease and Huntington’s disease are progressive neurodegenerative movement disorders that typically manifest in adulthood. In this study, genetic risk factors contributing to these two movement disorders were investigated in Finnish patients. Patients with early-onset or late-onset Parkinson’s disease as well as population controls were examined. The p.L444P mutation in GBA was found to contribute to the risk of Parkinson’s disease. POLG1 compound heterozygous mutations were detected in two patients with Parkinson’s disease and rare length variants in POLG1 were associate

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12

So, Hon-cheong, and 蘇漢昌. "Genetic architecture and risk prediction of complex diseases." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B4452805X.

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Vossen, Carolina Y. "Genetic risk factors for venous thrombosis : key players or minor risk modifiers ? /." [S.l. : s.n], 2005. http://catalogue.bnf.fr/ark:/12148/cb402235083.

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Beauchamp, Nicholas James. "Molecular genetic basis of inherited thrombophilia." Thesis, University of Sheffield, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.287349.

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Ferreira, Manuel A. R. "Genetic risk factors for allergic asthma in Australian families /." [St. Lucia, Qld.], 2005. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe19164.pdf.

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Rantala, M. (Maire). "Dietary modification and genetic variability of atherosclerosis risk factors." Doctoral thesis, University of Oulu, 2000. http://urn.fi/urn:isbn:9514256522.

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Abstract The risk factors for atherosclerosis and coronary heart disease (CHD) are multiple and may interact with each other. Diet has a significant role among the main risk factors for atherosclerosis, as it regulates the levels of plasma lipids and lipoproteins, their oxidative modification or protection from oxidation, blood pressure, energy balance, and thrombogenesis. Nutrients can transfer their effects directly through plasma concentrations or modify the cell transduction or gene expression of important regulatory genes. The response to dietary modification varies between individuals. T

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Karvonen, J. (Jarkko). "Genetic and immunological risk factors and carotid artery atherosclerosis." Doctoral thesis, University of Oulu, 2004. http://urn.fi/urn:isbn:9514272609.

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Abstract Atherosclerosis is a multifactorial disease with numerous genes and environmental factors affecting its intiation and progression. During the past years many candidate genes for atherosclerosis have been suggested, and it has also become evident that the immune system plays a part in atherogenesis. Early atherosclerotic changes can be effectively detected by measuring carotid artery intima-media thickness (IMT). In the present study the associations between IMT and polymorphisms of three candidate genes for atherosclerosis were studied: endothelial nitric oxide synthase (eNOS), apolip

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18

Duan, Qingling. "Pharmacogenomics and genetic risk factors of coronary artery disease." Thesis, McGill University, 2008. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=115665.

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Coronary artery disease (CAD) is the most prevalent disorder and the leading cause of death worldwide. There are a number of CAD medications, which are effective and safe in most patients, but have been associated with adverse reactions such as angioedema induced by angiotensin I-converting enzyme inhibitors (AE-ACEi). In this study, we identified aminopeptidase P (APP) activity as an endophenotype for AE-ACEi, which is a heritable quantitative trait (heritability =0.336 +/- 0.251 SD) and is significantly reduced in a majority of our cases. Although initial mutation screening did not reveal an

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Mahlman, M. (Mari). "Genetic background and antenatal risk factors of bronchopulmonary dysplasia." Doctoral thesis, Oulun yliopisto, 2018. http://urn.fi/urn:isbn:9789526219530.

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Abstract Advances over the past few decades in ante- and neonatal care have led to the survival of a growing number of premature infants of extremely low gestational age. However, the occurrence of serious diseases, particularly those affecting the most immature infants, remains high. Bronchopulmonary dysplasia (BPD), a chronic lung disease of premature infants, is one such disease. Our current understanding of the molecular pathogenesis of BPD is incomplete; consequently, there are few preventive and therapeutic options for BPD. Moreover, it is challenging to predict the risk of BPD. Previous

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Kraatari, M. (Minna). "The heritability and genetic risk factors of Modic changes." Doctoral thesis, Oulun yliopisto, 2018. http://urn.fi/urn:isbn:9789526220550.

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Abstract Low back pain (LBP) is a highly prevalent musculoskeletal condition and the leading cause for workplace absenteeism. Lumbar disc degeneration (DD) is considered as a contributing factor to LBP. The role of genetic factors in the development of lumbar DD has been demonstrated to be significant, with heritability estimates ranging from 64% to 81%. Modic change (MC), a distinct phenotype of lumbar DD, is a subchondral and vertebral bone marrow change revealed only by magnetic resonance imaging (MRI). MC has been associated with LBP in both clinical samples and the general population. The

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Byrne, Karl Smith. "Lifestyle, biochemical, and genetic risk factors for prostate cancer." Thesis, University of Oxford, 2017. http://ora.ox.ac.uk/objects/uuid:eb6da30a-c986-4eeb-b270-667c82fe3497.

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Despite considerable research there are no established risk factors for prostate cancer beyond age, family history, ethnicity, genetic factors, and insulin-like growth factor I. However, evidence from existing studies of risk factors for prostate cancer suggest that many lifestyle and biochemical exposures, and genetic variants may be risk factors for prostate cancer. Exposures investigated in this thesis are: vasectomy status, microseminoprotein-beta (MSP), human kallikrein 2 (HK2), and the lactase persistence SNP, rs4988235. Additionally, this thesis contains an analysis of how germline poly

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Romagnoli, Martina <1987&gt. "Genetic, immune and environmental risk factors in Alzheimer's disease." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2017. http://amsdottorato.unibo.it/7930/1/Romagnoli_Martina_tesi.pdf.

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Alzheimer's disease (AD) is a complex multi-factorial disease in which several pathogenetic, clinical, environmental and stochastic factors are involved. It is on record that persistent virus infections, the progressive decline of immune competence with ageing and chronic psychological stress exposures might play a pivotal role in AD. This study shows that in patients with clinical and neurological AD diagnosis, antiviral immune response is defective in the majority of AD brain samples. Moreover, gene variants of APOE and IRF7 strongly affect antiviral gene expression profiles in hippocampus.

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Ruth, Katherine Sarah. "Identification of genetic and non-genetic factors contributing to female reproductive ageing." Thesis, University of Exeter, 2015. http://hdl.handle.net/10871/19189.

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The aim of my work was to identify additional genetic and non-genetic factors influencing female reproductive ageing in humans. Although approximately 50% of population variation in age at menopause is due to genetics, less than 3% of variation had been accounted for by common genetic variants. Of non-genetic risk factors, only smoking had consistently been found to have a strong effect on age of menopause. In the wider context of female reproduction, our understanding of the role of genetics in determining sex hormone levels was limited. By combining the results of research in these different

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Wanby, Pär W. "On certain genetic and metabolic risk factors for carotid stenosis and stroke." Doctoral thesis, Linköpings universitet, Institutionen för medicin och hälsa, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-7467.

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The present study evaluated genetic and metabolic factors influencing the risk of acute cerebrovascular disease (CVD) and internal carotid artery stenosis (ICA stenosis) in a Swedish community. The threonine (T) containing protein of the FABP2 A54T gene polymorphism has a greater affinity for long chain fatty acids (FFAs) than the alanine (A) containing protein. This altered affinity for FFAs has been shown to affect the intestinal absorption of fatty acids and consequently the fatty acid composition of serum lipids, in particularly postprandially. Endothelium derived NO is a potent vasodilato

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Varghese, Jajini Susan. "Genetic and life-style determinants of mammographic density." Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610197.

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Mira, Marcelo Távora. "A study of host genetic risk factors for leprosy susceptibility /." Thesis, McGill University, 2003. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=84296.

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Leprosy, a chronic infectious disease caused by Mycobacterium leprae, is the leading cause of non-traumatic neuropathies in the world. Although a genetic component for leprosy susceptibility has been demonstrated by several studies, the exact nature and extent of this component is still unknown. Here, we applied linkage and association analysis in a combined candidate region and genome-wide approach to further investigate the nature of host genetic factors controlling leprosy susceptibility. First, we used 20 Vietnamese multiplex leprosy families to perform linkage analysis on selected

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Chen, Lu-hua, and 陈璐华. "Genetic risk factors for late-onset Alzheimer's disease in Chinese." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B49617588.

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Alzheimer’s disease (AD) is a progressive neurodegenerative disorder, with genetic factors playing critical roles in its pathogenesis. Mutations in APP, PSEN1 and PSEN2 genes are confirmed to be causative risk factors for early-onset Alzheimer’s disease (EOAD). For late-onset Alzheimer’s disease (LOAD), growing evidence suggests it is caused by multiple genetic risk factors in corporation with the environmental exposures. Although, so far, APOE is the most well recognized common genetic risk factor for LOAD, other susceptible candidate genes, such as CR1, CLU and PICALM, have recently been id

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Sarwar, Nadeem. "Emerging molecular and genetic risk factors for coronary heart disease." Thesis, University of Cambridge, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.611549.

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Nibali, Luigi. "Analysis of genetic polymorphisms as risk factors for Aggressive Periodontitis." Thesis, University College London (University of London), 2006. http://discovery.ucl.ac.uk/1444871/.

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This PhD consisted of a series of studies aiming at detecting genetic risk factors for Aggressive Periodontitis (AgP). AgP is a destructive disease of the periodontium affecting around 1% of the population and leading to early tooth loss. Microbiological and environmental factors are thought to act on a genetically susceptible host to determine AgP. We conducted a case-control association study on 224 AgP patients (both Generalised AgP and Localised AgP) and 231 healthy controls to detect differences in genotype distributions of 13 single nucleotide polymorphisms (SNPs). The selected SNPs incl

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Stojanova, Jana. "Environmental and genetic risk factors for post-transplant lymphoproliferative disease." Limoges, 2013. http://aurore.unilim.fr/theses/nxfile/default/6c517c4c-5de7-490e-a6f5-5fc542155ba9/blobholder:0/2013LIMO310E.pdf.

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Post-transplant lymphoproliferative disorders (PTLDs) represent a serious complication in solid organ transplantation and are the first cause of cancer related mortality in this population. Furtehrmore, lymphomatous PTLD in this setting is frequently extranodal, can behave more aggressively and tends to have a worse prognosis. Previous work addressing risk factors for PTLD have been based on data from large registries, lacking the detail required to address the role of individual maintenance immunosuppressant drugs, taken over time. Studies looking at genetic risk factors for PTLD have focused

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Cheah, Sern Yih. "Understanding the risk and functional importance of schizophrenia genetic factors." Thesis, Queensland University of Technology, 2016. https://eprints.qut.edu.au/101340/1/Sern%20Yih_Cheah_Thesis.pdf.

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This thesis investigated the role of genetics in schizophrenia. Particular schizophrenia risk genes were examined to determine their role in the development of specific schizophrenia symptoms. These genes were further studied to determine how they interact to cause schizophrenia symptoms. One important schizophrenia risk gene (BDNF) was studied in detail to determine its effect on gene expression and epigenetic changes in brains of schizophrenia individuals. This thesis has contributed to a better understanding of the role of genetics in the development of particular symptoms of schizophrenia.

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McCormack, R. M. "Identification of genetic factors contributing to the development of type 1 (insulin-dependent) diabetes mellitus in the Northern Ireland population." Thesis, Queen's University Belfast, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.246427.

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Tannenbaum, Rebecca L. "Risk Factors Associated with Prematurity in Patients Diagnosed with Hypospadias." University of Cincinnati / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1368024479.

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Daavittila, I. (Iita). "Genetic risk factors for lumbar intervertebral disc disease characterized by sciatica." Doctoral thesis, University of Oulu, 2007. http://urn.fi/urn:isbn:9789514283666.

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Abstract Genetic factors have been shown to have an important role in intervertebral disc disease. The associations of known genetic risk factors and whole-body vibration, a proposed environmental risk factor, for intervertebral disc disease (IDD) were evaluated. Eleven variations in eight genes (COL9A2, COL9A3, COL11A2, IL1A, IL1B, IL6, MMP-3 and VDR) were genotyped in 150 male train engineers with an average of 21-year exposure to whole-body vibration and 61 male paper mill workers with no occupational exposure to vibration. The number of individuals belonging to the IDD group was significan

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Park, S. "An investigation of genetic risk factors in primary open-angle glaucoma." Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/18777/.

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Primary open-angle glaucoma (POAG) is a multifactorial disease with a strong genetic component. Notably however, few genes have been robustly associated with POAG in the general population. Genes in which mutation causes anterior segment angle anomalies, including LMX1B and FOXC1 are associated with a high incidence of glaucoma to about 33-75% and are strong candidates for glaucoma susceptibility. In addition, growth factors including TGFβ2 and BMP4 act in concert to maintain a balance between extracellular matrix (ECM) deposition and degradation and may play a role in glaucoma pathogenesis th

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Schader, Lindsey Marie. "Comparison of Genetic Risk Factors Between Two Type II Diabetes Subtypes." Thesis, The University of Arizona, 2015. http://hdl.handle.net/10150/595048.

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Type 2 Diabetes (T2D) is an extremely heterogeneous disease, and the heritability of T2D is not fully accounted for. This study seeks to determine T2D subtypes based on clinical features before T2D diagnosis, and to test whether genetic risk factors differ between the subtypes. A sample of 13,459 White, GWAS study participants was obtained from FRAM, MESA, and ARIC. This sample consisted of 832 cases (individuals who developed T2D during follow-up) and 12,066 controls (did not develop T2D). K-means clustering was used to cluster individuals in the cases dataset based on metabolic and anthropom

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Shah, S. H. "Discovery and application of genetic determinants of cardiovascular disease risk factors." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1417181/.

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The focus of my PhD has been two-‐fold: First, to improve the understanding of the biology behind a well-‐known cardiovascular disease (CVD) risk factor -‐ left ventricular mass, by identifying novel genetic loci associated with this risk factor. A large-‐scale association meta-‐analysis in over 10,000 individuals identified four novel loci associated with electrocardiographically-‐determined left ventricular mass. Second, to explore the application of known genetic determinants of the main blood lipid fractions, the latter being well-‐known CVD risk factors and therapeutic targets. I a

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Kopplin, Laura J. "The Identification of Genetic Risk Factors for Age-Related Macular Degeneration." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1251752708.

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McVey, David Graham. "Investigating genetic risk factors of coronary artery disease using genome editing." Thesis, University of Leicester, 2016. http://hdl.handle.net/2381/36614.

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Genome-wide association studies (GWAS) have identified the genetic loci associated with many complex diseases including coronary artery disease (CAD). The challenge now is to elucidate the biological and cellular pathways affected by disease-associated loci. In order to fully understand the functional mechanisms, the causal genetic variants need to be identified. The majority of GWAS loci lack candidate genes, and may instead be located in regulatory regions, making the functional effects of specific variants difficult to appreciate. Recently, genome editing techniques have become available th

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Lai, Pui Man Rosalind. "Understanding the Genetic Susceptibility and Epidemiologic Risk Factors of Intracranial Aneurysms." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:15821583.

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Background and Objectives Intracranial aneurysms affect up to 3% of the population and carry a high mortality and morbidity prognosis when presented with aneurysm rupture and spontaneous subarachnoid hemorrhage (SAH). Despite its severity on patient prognosis and cost to society, the pathologic mechanism of cerebral aneurysm formation and rupture remains unclear. The roles of genetics and epidemiology have been implicated to play major roles in the pathogenesis of aneurysm and patient outcome after SAH. Our studies serve to investigate both the genetic and epidemiologic factors associated with

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Kopplin, Laura J. "The indentification of genetic risk factors for age-related macular degeneration." Cleveland, Ohio : Case Western Reserve University, 2009. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=case1251752708.

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Bruenig, Dagmar. "Genetic, biomarker and psychological factors for risk and resilience of PTSD." Thesis, Queensland University of Technology, 2017. https://eprints.qut.edu.au/112180/1/Dagmar_Bruenig_Thesis.pdf.

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This thesis systematically investigated molecular risk and protective markers of Posttraumatic Stress Disorder (PTSD). PTSD poses a significant health and societal burden in Australia, especially in at-risk groups such as military personnel. The molecular aetiology of the disorder is poorly understood and it is unclear why many people recover quickly after trauma exposure while others continue to suffer. The thesis significantly contributes to the field of stress and resilience research by identifying novel markers for replication and adding to the knowledge-base of molecular markers for resil

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Wade, Walsh Margo. "Women Receiving Genetic Counseling for Breast Cancer Risk: Cancer Worry, Psychological Distress, and Risk Recall Accuracy." Thesis, University of North Texas, 1999. https://digital.library.unt.edu/ark:/67531/metadc2185/.

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This follows an earlier study of the same data set, which, through its findings, presented new questions that are investigated in this study. Both studies used a prospective controlled design, wherein women receiving genetic counseling for breast cancer risk were randomized into two groups. Subjects receiving an audiotaped recording of their genetic consultation (tape group) were compared to subjects who also had a genetic consultation but did not receive an audiotaped recording of it (no-tape group). Participants were drawn from attendees at the genetic clinics of two London hospitals and inc

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Mokone, Gaonyadiwe George. "Risk factors for Achilles tendon injuries : an emphasis on the identification of specific genetic factors." Doctoral thesis, University of Cape Town, 2006. http://hdl.handle.net/11427/3270.

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Includes bibliographical references.<br>This main purpose of this thesis was therefore to investigate whether any specific genes on the tip of the long arm of chromosome 9 were associated with Achilles tendon injuries, using a case-control study design. The specific objectives were: (i) to identify all genes located in the 9q32-q34.3 locus in close proximity to the ABO gene, that could be involved in tendon injuries (Chapter 2) and (ii) to investigate the possible association of the identified candidate genes (COL5A1 and TNC with both Achilles tendon rupture and chronic Achilles tendinopathy (

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Stone, Hillarey. "Enrichment of Transcriptional Regulators at Steroid Sensitive Nephrotic Syndrome Genetic Risk Loci." University of Cincinnati / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin160199291391191.

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Naguib, M. "Late paraphrenia : phenomenology, classification and risk factors implicated in its causation." Thesis, King's College London (University of London), 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325085.

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Osterstock, Jason Barrett. "Genetic epidemiology and familial risk factors for paratuberculosis seropositivity in beef cattle." [College Station, Tex. : Texas A&M University, 2007. http://hdl.handle.net/1969.1/ETD-TAMU-2435.

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Eckart, Kerstin. "Identification and Functional Characterization of Genetic Risk Factors in Alzheimer´s Disease." Diss., lmu, 2009. http://nbn-resolving.de/urn:nbn:de:bvb:19-102595.

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Kytövuori, L. (Laura). "Genetic causes and risk factors associated with phenotypes occurring in mitochondrial disorders." Doctoral thesis, Oulun yliopisto, 2017. http://urn.fi/urn:isbn:9789526215815.

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Abstract Finding the genetic causes leading to phenotypes of mitochondrial diseases is challenging because of heterogeneity of the disorders and variety of the underlying biochemical defects. In adults, many of the manifestations of mitochondrial diseases cannot be distinguished from the neurodegenerative processes associated with old age. A single mutation or mutations within the same gene can result in a broad range of disorders. Conversely, clinically similar, monogenic disorders may be caused by genes which are governing entirely different cellular pathways. This study investigated the gen

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Clark, Graeme Richard. "The role of genetic risk factors on the phenotype of Parkinson's Disease." Thesis, University of Newcastle upon Tyne, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.489728.

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Parkinson's disease (PD) is the second most comInon neurodegenerative disease after Alzheimer's disease (AD), and effects approximately 1% of the over 50 population. PD can be clinically characterised by the so called 'cardinal features', which include resting tremor rigidity, bradykinesia and postural instability. Many PD patients later develop non-motor symptoms, including depression, psychosis, anxiety, insomnia and dementia. Previous studies have focussed on dementia in PD, with co-prevalence rates of between 10-80% being reported, the most consistent estimates being 25-30%. Also, PD patie

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