Rozprawy doktorskie na temat „Genetic risk factor”
Utwórz poprawne odniesienie w stylach APA, MLA, Chicago, Harvard i wielu innych
Sprawdź 50 najlepszych rozpraw doktorskich naukowych na temat „Genetic risk factor”.
Przycisk „Dodaj do bibliografii” jest dostępny obok każdej pracy w bibliografii. Użyj go – a my automatycznie utworzymy odniesienie bibliograficzne do wybranej pracy w stylu cytowania, którego potrzebujesz: APA, MLA, Harvard, Chicago, Vancouver itp.
Możesz również pobrać pełny tekst publikacji naukowej w formacie „.pdf” i przeczytać adnotację do pracy online, jeśli odpowiednie parametry są dostępne w metadanych.
Przeglądaj rozprawy doktorskie z różnych dziedzin i twórz odpowiednie bibliografie.
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.
Pełny tekst źródłaChen, Hong [Verfasser]. "Plasminogen is a genetic risk factor of periodontitis / Hong Chen". Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2018. http://d-nb.info/1196803110/34.
Pełny tekst źródłaPerdigão, Catarina. "The impact of the genetic risk factor BIN1 to Alzheimer’s disease development". Doctoral thesis, Universidade Nova de Lisboa. Instituto de Tecnologia Quimica e Biológica António Xavier, 2021. http://hdl.handle.net/10362/132008.
Pełny tekst źródłaN/A
Caglayan, Safak [Verfasser]. "SORLA/SORL1 as genetic risk factor in Alzheimer disease / Safak Caglayan". Berlin : Freie Universität Berlin, 2013. http://d-nb.info/1043480935/34.
Pełny tekst źródłaNewsome, Jamie. "Resilience and Vulnerability in Adolescents at Risk for Delinquency: A Behavioral Genetic Study of Differential Response to Risk". University of Cincinnati / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1367937532.
Pełny tekst źródłaMutize, Tinashe. "DNA methylation : a risk factor for type 2 diabetes mellitus". Thesis, Cape Peninsula University of Technology, 2016. http://hdl.handle.net/20.500.11838/2388.
Pełny tekst źródłaThe early detection of individuals who are at risk of developing type 2 diabetes mellitus (T2DM) would decrease the morbidity and mortality associated with this disease. DNA methylation, the most widely studied epigenetic mechanism, offers unique opportunities in this regard. Aberrant DNA methylation is associated with disease pathogenesis and is observed during the asymptomatic stage of disease. DNA methylation has therefore attracted increasing attention as a potential biomarker for identifying individuals who have an increased risk of developing T2DM. The identification of high risk biomarkers for T2DM could facilitate risk stratification and lifestyle interventions, which could ultimately lead to better ways to prevent, manage and control the T2DM epidemic that is rampant worldwide. The aim of the study was to investigate global DNA methylation as a potential risk factor for T2DM by studying the association between the global DNA methylation levels and hyperglycaemic states. A cross-sectional, quantitative study design, involving 564 individuals of mixed ancestry descent, residing in Bellville South, South Africa was used. Participants were classified as normal, pre-diabetic (impaired fasting glucose (IFG) and/or impaired glucose tolerance (IGT)) or diabetic (screen detected diabetic and known diabetics) according to WHO criteria of 1998. DNA was extracted from whole blood using the salt extraction method. The percentage global DNA methylation was measured by an enzyme-linked immunosorbent assay (ELISA). The association between global DNA methylation and hyperglycaemia, as well as other biochemical markers of T2DM was tested in a robust linear regression analysis adjusted for age, gender and smoking.
Kirin, Mirna. "Genetic analysis of retinal traits". Thesis, University of Edinburgh, 2014. http://hdl.handle.net/1842/9619.
Pełny tekst źródłaMahlman, M. (Mari). "Genetic background and antenatal risk factors of bronchopulmonary dysplasia". Doctoral thesis, Oulun yliopisto, 2018. http://urn.fi/urn:isbn:9789526219530.
Pełny tekst źródłaTiivistelmä Ennenaikaisen syntymän ja keskoslasten hoidon kehittymisen myötä yhä useammat huomattavan epäkypsinä syntyneet lapset jäävät henkiin. Samalla erityisesti juuri näitä lapsia uhkaavien sairauksien esiintyvyys on pysynyt korkeana. Bronkopulmonaalinen dysplasia (BPD, keskosen krooninen keuhkosairaus) on yksi näistä sairauksista. BPD:n molekyylitasoinen tautimekanismi on vielä osin tuntematon, eikä BPD:tä tehokkaasti estävää tai siitä parantavaa hoitoa ole. Myös BPD riskin arvioiminen vastasyntyneen keskoslapsen kohdalla on vaikeaa. BPD on huomattavan perinnöllinen tauti. BPD:lle altistavista geeneistä on kuitenkin vasta vähän tietoa. Tämän tutkimuksen tavoitteena oli lisätä tietoa BPD:n tautimekanismista tutkimalla BPD:lle altistavia geenejä. Lisäksi tutkimuksessa tarkasteltiin BPD:n esiintyvyyttä ja syntymää edeltäviä riskitekijöitä erityisesti kaksosten osalta. Ehdokasgeenitutkimuksessa verisuonten endoteelikasvutekijää koodaava geeni ei assosioitunut toistuvasti BPD:hen. Kit ligandia koodaava geeni sen sijaan assosioitui. Koko genomin assosiaatiotutkimuksessa C-reaktiivista proteiinia (CRP) koodaavan geenin lähistöltä löydettiin BPD:hen mahdollisesti assosioituva alue. Lisäksi ensimmäisen viikon CRP-arvojen osoitettiin ennakoivan myöhemmin kehittyvää BPD:tä. BPD-riskin todettiin olevan matalampi kaksi- kuin yksisikiöisistä raskauksista syntyneillä lapsilla. Tutkimuksen tulokset lisäävät tietoa BPD:n perinnöllisyydestä ja sitä kautta BPD:n tautimekanismista. Tutkimus toi myös uutta tietoa BPD:n riskitekijöistä parantaen vastasyntyneen keskoslapsen BPD-riskin arviota
Bayoumy, Nervana M. K. "Genetic analysis of plasma von Willebrand factor antigen levels as a risk factor for arterial and venous thrombosis". Thesis, University of Aberdeen, 2006. http://digitool.abdn.ac.uk/R?func=search-advanced-go&find_code1=WSN&request1=AAIU223247.
Pełny tekst źródłaPolasek, Ozren. "Investigating the role of human genome-wide heterozygosity as a health risk factor". Thesis, University of Edinburgh, 2009. http://hdl.handle.net/1842/4799.
Pełny tekst źródłaBruenig, 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.
Pełny tekst źródłaFreund, Christian. "PROGINS-polymorphism in the human progesterone receptor gene: a potential genetic risk factor for prostate cancer?" Ulm : Universität Ulm, Medizinische Fakultät, 2002. http://www.bsz-bw.de/cgi-bin/xvms.cgi?SWB10028616.
Pełny tekst źródłaErqou, Sebhat. "Lipoprotein(a) and the risk of vascular disease". Thesis, University of Cambridge, 2010. https://www.repository.cam.ac.uk/handle/1810/225182.
Pełny tekst źródłaMorimoto, Libby Mitsue. "IGF polymorphisms, lifestyle factors, and colorectal cancer risk /". Thesis, Connect to this title online; UW restricted, 2003. http://hdl.handle.net/1773/10955.
Pełny tekst źródłaChismark, Elisabeth A. "C-Reactive protein polymorphism and serum levels as an independent risk factor in sickle cell disease". View the abstract Download the full-text PDF version, 2008. http://etd.utmem.edu/ABSTRACTS/2008-043-Chismark-index.htm.
Pełny tekst źródłaTitle from title page screen (viewed on January 6, 2009). Research advisor: Ann K. Cashion, Ph.D. Document formatted into pages (x, 102 p. : ill.). Vita. Abstract. Includes bibliographical references (p. 81-88).
Bongaerts, Brenda Wilhelma Corinna. "Alcohol consumption as a risk factor for colorectal cancer an epidemiological study on genetic susceptibility and molecular endpoints /". Maastricht : Maastricht : Universitaire Pers ; University Library, Universiteit Maastricht [host], 2008. http://arno.unimaas.nl/show.cgi?fid=13362.
Pełny tekst źródłaPalles, 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.
Pełny tekst źródłaFreund, Christian [Verfasser]. "PROGINS-polymorphism in the human progesterone receptor gene: a potential genetic risk factor for prostate cancer? / Christian Freund". Ulm : Universität Ulm. Medizinische Fakultät, 2002. http://d-nb.info/1015948650/34.
Pełny tekst źródłaMansfield, Michael William. "The interaction of genetic and environmental vascular risk markers in patients with non-insulin-dependent diabetes mellitus and their first degree relatives". Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.388894.
Pełny tekst źródłaBourdon, Jessica L. "Translational insights into the genetic etiology of mental health disorders: Examining risk factor models, neuroimaging, and current dissemination practices". VCU Scholars Compass, 2019. https://scholarscompass.vcu.edu/etd/5734.
Pełny tekst źródłaGUMINA, VALENTINA. "TDP-43 AND NOVA-1 RNA BINDING PROTEINS AS SPLICING REGULATORS OF TNIK GENE, A SCHIZOPHRENIA GENETIC RISK FACTOR". Doctoral thesis, Università degli Studi di Milano, 2019. http://hdl.handle.net/2434/610072.
Pełny tekst źródłaIngre, Caroline. "On the aetiology of ALS : a comprehensive genetic study". Doctoral thesis, Umeå universitet, Institutionen för farmakologi och klinisk neurovetenskap, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-67460.
Pełny tekst źródłaOn the aetiology of ALS: A comprehensive genetic study
Siahpush, Seyed Hossein. "Longitudinal study of insulin-like growth factor-I, binding protein-3, and their polymorphisms : risk of neoplastic progression in Barrett's esophagus /". Thesis, Connect to this title online; UW restricted, 2006. http://hdl.handle.net/1773/10870.
Pełny tekst źródłaWong, Jencia. "Age of diagnosis as a factor in the heterogeneity of type 2 diabetes: a clinical and molecular study". Thesis, The University of Sydney, 2009. https://hdl.handle.net/2123/28210.
Pełny tekst źródłaXu, Ling. "Transcription Factor 7-like 2 (TCF7L2) Gene Polymorphisms in Relation to the Risk of Type 2 Diabetes in three ethnicities". FIU Digital Commons, 2018. https://digitalcommons.fiu.edu/etd/3815.
Pełny tekst źródłaWang, Ming-Dong. "Identification of Risk Factors Associated with Aetiology of Amyotrophic Lateral Sclerosis Based on Systematic Review and Meta-Analysis". Thèse, Université d'Ottawa / University of Ottawa, 2014. http://hdl.handle.net/10393/31145.
Pełny tekst źródłaORIOLI, Elisa. "GENETIC POLYMORPHISMS OF THE FOLATE METABOLIC PATHWAY IN CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA. A MOLECULAR STUDY AND A PROPOSAL FOR AN INTERPRETATIVE MODEL". Doctoral thesis, Università degli studi di Ferrara, 2014. http://hdl.handle.net/11392/2389047.
Pełny tekst źródłaNarayanan, Ram. "Genotype and phenotype interactions of the insulin-like growth factor system in type 2 diabetes". Thesis, University of Manchester, 2013. https://www.research.manchester.ac.uk/portal/en/theses/genotype-and-phenotype-interactions-of-the-insulinlike-growth-factor-system-in-type-2-diabetes(5e6925fb-195d-47d8-a06d-8957a8f3b86f).html.
Pełny tekst źródłaJung, Su Yon, Thomas Rohan, Howard Strickler, Jennifer Bea, Zuo-Feng Zhang, Gloria Ho i 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.
Pełny tekst źródłaSchettert, Isolmar Tadeu. "Avaliação das variantes genéticas funcionais trombogênicas relacionadas ao receptor plaquetário P2Y12 e à metaloprotease ADAMTS13 em pacientes apresentando doença arterial coronariana". Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/5/5131/tde-24062008-145244/.
Pełny tekst źródłaThrombotic genetic variants could improve the risk of adverse events related to coronary arterial disease (CAD). P2Y12 platelet receptor H2 haplotype showed higher aggregation index and a positive association was described between such genetic variant and peripheral artery disease. DAMTS13 is a metaloprotease responsible to von Willebrand factor cleavage recently found correlated to CAD. We tested the genetic variants P2Y12 receptor H1 and H2 haplotypes and ADAMTS13 polymorphisms C1342G (Q448E), C1852G (P618A) and C2699T (A900V) in a group of 611 patients enrolled in the Medical, Angioplasty, or Surgery Study II (MASS II), a randomized trial comparing treatments for patients with coronary artery disease (CAD) and preserved left ventricular function in a follow up period of 05 years. The incidence of the end points of death and death from cardiac causes, myocardial infarction, refractory angina requiring revascularization and cerebrovascular accident was determined for P2Y12 H1 and H2 haplotypes and ADAMTS polymorphisms. In our study, we did not disclose any association between H1 or H2 haplotype groups regarding the incidence of any of the studied cardiovascular end-points. The association of ADAMTS13 genotypes and cardiovascular events did not showed any association between C1342G (Q448E), C1852G (P618A) variants and cardiovascular end points. Our date provide a strong association between T2699 variant and increased risk to death (OR: 1,67 CI: 1-2,78, p= 0,049) and cardiac death (OR: 2,23 CI: 1,2-3,94, p=0,004) in a population with CAD. The allelic combinations and haplotypes obtained from ADAMTS13 polymorphisms were not associated to cardiac end points and survival differences between MASS II patients.
Marzi, Carola [Verfasser], i Thomas [Akademischer Betreuer] Illig. "Is acute-phase serum amyloid a protein a risk factor for type 2 diabetes : epidemiologic perspective including a genetic approach / Carola Marzi. Betreuer: Thomas Illig". München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2014. http://d-nb.info/1047762102/34.
Pełny tekst źródłaAbelson, 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.
Pełny tekst źródłaBeskow, 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.
Pełny tekst źródłaKelempisioti, A. (Anthi). "Genetic risk factors for intervertebral disc degeneration". Doctoral thesis, Oulun yliopisto, 2016. http://urn.fi/urn:isbn:9789526211350.
Pełny tekst źródłaTiivistelmä Alaselkäkipu on yksi yleisimmistä sairauksista ja johtava syy työkyvyttömyyteen. Välilevyrappeuma myötävaikuttaa merkittävästi alaselän kipuun. Vaikka aiemmat tutkimukset ovat osoittaneet, että perintötekijöillä on vahva osuus välilevyrappeumaan, altistavat geenit ja niiden rooli tunnetaan huonosti. Tämän tutkimuksen tavoitteena oli arvioida tiettyjen perintötekijöiden osuutta välilevyrappeumassa ja tunnistaa taudille altistava geeni perheaineistossa aiemmin havaitulta kromosomialueelta. Aineistoina tutkimuksessa olivat perheaineistot sekä laajat potilas-kontrolliaineistot suomalaisesta ja aasialaisista väestöistä. Tutkimuksessa osoitimme, että perimän vaihtelut viidessä tutkitussa geenissä altistivat erilaisille välilevyrappeuman taudin muodoille. Tutkimus, jossa analysoimme aiemmin tunnistettuja alttiusgeenejä, vahvisti IL6, SKT ja CILP geenien vaihteluiden osuuden taudin alttiustekijöinä. Tutkimusaineistona oli pohjoissuomalainen syntymäkohortti, jossa välilevyrappeuma oli määritetty magneettikuvauksella (MRI). Suomalaisessa perheaineistossa tehdyn kokogenomin laajuisen kartoituksen pohjalta analysoimme IL17F geenin mahdollisena uutena alttiusgeeninä oireiselle välilevytaudille. Kahdesta geenin variantista koostuva haplotyyppi assosioitui tautiin merkitsevästi. Lisäksi osoitimme, että SKT-geenin tietty muutos altistaa välilevyn pullistumille sekä japanilaisessa että suomalaisessa potilasaineistossa. Hiirikokeissa on havainnoitu, että SKT-geenin homotsygootti mutaatio johtaa välilevy-poikkeamaan, joka edelleen aiheuttaa hiiren poikkeavan häntäilmiasun-. Hypoteesimme oli, että ihmisen SKT -geeni voi myötävaikuttaa välilevypullistuman kehittymiseen altistamalla välilevyt rappeumalle. Edelleen, laajassa usean populaation aineiston käsittävässä tutkimuksessa osoitimme CHST3-geenin muutoksen altistavan välilevyrappeumalle. Peittyvästi periytyvät muutokset tässä geenissä aiheuttavat perinnöllisiä harvinaisia luusairauksia. Tämä väitöstutkimus tarjoaa uutta tietoa välilevyrappeuman geneettisestä taustasta ja auttaa taudin syiden tutkintaa. Geenien rooli välilevyn toiminnassa ja muutosten vaikutus taudin kulkuun vaativat kuitenkin vielä lisätutkimuksia
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.
Pełny tekst źródłaAl-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.
Pełny tekst źródłaBurger, Marilize Cornelle. "Genetic risk factors for carpal tunnel syndrome". Doctoral thesis, University of Cape Town, 2014. http://hdl.handle.net/11427/12714.
Pełny tekst źródłaCarpal 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 flexor tendons, causes compression of the median nerve, the involvement of these tendons and other connective tissue structures in the aetiology of CTS cannot be excluded. In support of this, pathology of these connective structures have been proposed as being comorbid conditions or a precursor of CTS, cause CTS and/or can lead to an increase in carpal tunnel pressure. Several studies have suggested that specific non-occupational risk factors, such as anatomical, systemic and chronic factors as well as mostly repetition- and force-related occupational risk factors are associated with CTS. Although genetic influences in the aetiology of CTS have been proposed, this area has received little attention. Common DNA sequence variants on the other hand have previously been reported to associate with common exercise-associated tendon, such as chronic Achilles tendinopathy, and ligament injuries. The aim of this thesis was to determine whether common DNA sequence variants within several genes that have been associated or implicated in the aetiology of exercise-related musculoskeletal soft tissue injuries, are associated with altered risk of CTS by using a genetic association case-control study approach.
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.
Pełny tekst źródłaFigure 4 on page 17 is publshed with kind permisson from The Journal of Physiology (http://jp.physoc.org/).
Moreno, Mendoza Daniel. "Tumor testicular de células germinales: identificación de nuevos factores de riesgo". Doctoral thesis, Universitat Autònoma de Barcelona, 2020. http://hdl.handle.net/10803/671273.
Pełny tekst źródłaLa presente tesis es una aportación al conocimiento de nuevos factores de riesgo para el tumor testicular de células germinales (TTCG). El TTCG presenta una etiología multifactorial, atribuible a un retraso en la diferenciación de los gonocitos fetales. El TTCG es más frecuente en varones con una espermatogénesis alterada, sugiriendo una posible etiopatogenia común. El cromosoma Y contiene genes esenciales para una correcta espermatogénesis, las regiones del factor de azoospermia (AZF). La región AZF más dinámica es la región AZFc que presenta puntos frágiles que predispone a reordenamientos. El reordenamiento parcial más relevante desde el punto de vista clínico de la región AZFc es la deleción gr/gr. Se ha relacionado la delación gr/gr con un mayor riesgo de desarrollar un TTCG, pero la falta de información sobre los parámetros seminales de los pacientes no ha permitido de clarificar si la asociación observada está relacionada con la espermatogénesis alterada o si es un factor de riesgo independiente. Además, aún queda por establecer si otros tipos de deleciones y duplicaciones de la región AZFc presentan relación con el TTCG. La primera parte de esta tesis se enfoca en el estudio de los reordenamientos parciales de la región AZFc en el TTCG. Se han analizado 497 pacientes con TTCG y 2030 controles sin TTCG. Un 3.8% de los pacientes con TTCG presentaban algún tipo de deleción parcial de la región AZFc respecto al 2.5% del grupo control (p= 0.078). La deleción parcial más frecuente fue la deleción gr/gr, mientras que los otros tipos de deleciones parciales de la región AZFc resultaron ser muy raras. Según el fenotipo seminal, se observó un mayor riesgo de TTCG en pacientes normozoospérmicos portadores de deleciones parciales de la región AZFc respecto a los controles normozoospérmicos. No hubo diferencias significativas entre pacientes y controles según las duplicaciones parciales de la región AZFc. Se mostró que las alteraciones en la dosis del gen DAZ confieren un mayor riesgo de TTCG. Estos resultados confirman que un déficit del contenido génico de la región AZFc juega un papel importante en la etiopatogénesis del TTCG. En particular, la deleción gr/gr confiere un riesgo significativo para el desarrollo del TTCG independientemente de los parámetros seminales. Los factores ambientales también están involucrados en la etiopatogénesis del TTCG, especialmente si interfieren en un periodo específico del desarrollo testicular, en el denominado "masculinization programming window" (MPW). Un desequilibrio hormonal en este periodo compromete la correcta función de las células fetales de Sertoli y Leydig, originando el síndrome de disgenesia testicular (SDT). La distancia anogenital (DAG) es considerada un biomarcador de la acción de los andrógenos durante el MPW. La DAG más corta ha sido relacionada con todos los componentes del SDT, excepto con el TTCG. La segunda parte de esta tesis valora la asociación entre la DAG y el TTCG. Además evalúa el papel del polimorfismo CAG del gen AR en el desarrollo del TTCG y la DAG. Se analizaron a 156 pacientes con TTCG y 110 controles sanos normozoospérmicos. Se observó una distancia anopeneana (DAGap) y una distancia anoescrotal (DAGas) significativamente más corta en los TTCG respecto a los controles. Se definieron unos punto de corte (DAGap: 130mm ;DAGas: 53mm) que indican un mayor riesgo de TTCG en aquellos individuos que se encuentren por debajo de estos valores. No se encontró relación entre el polimorfismo CAG y el TTCG o la longitud de la DAG. En conclusión, los datos revelan que los pacientes con una DAG más corta presentan un mayor riesgo de TTCG, apoyando la teoría sobre la influencia del desequilibrio androgénico durante el desarrollo fetal en la etiopatogenia del TTCG.
This thesis is a contribution to the knowledge of new risk factors for testicular germ cell tumor (TTCG). TTCG has a multifactorial etiology, attributable to a delay in the differentiation of fetal gonocytes. TTCG is more frequent in men with altered spermatogenesis, suggesting a possible common etiopathogenesis. The Y chromosome contains essential genes for correct spermatogenesis, the azoospermia factor (AZF) regions. The most dynamic AZF region is the AZFc region that presents fragile points that predispose to rearrangements. The most clinically relevant partial rearrangement of the AZFc region is the gr / gr deletion. gr / gr cheating has been associated with an increased risk of developing TTCG, but the lack of information on the seminal parameters of the patients has not made it possible to clarify whether the observed association is related to altered spermatogenesis or if it is a factor of independent risk. Furthermore, it remains to be established whether other types of deletions and duplications of the AZFc region are related to TTCG. The first part of this thesis focuses on the study of partial rearrangements of the AZFc region in the TTCG. 497 patients with TTCG and 2030 controls without TTCG have been analyzed. 3.8% of the patients with TTCG presented some type of partial deletion of the AZFc region compared to 2.5% of the control group (p = 0.078). The most frequent partial deletion was the gr / gr deletion, while the other types of partial deletions of the AZFc region were found to be very rare. According to the seminal phenotype, a higher risk of TTCG was observed in normozoospermic patients carrying partial deletions of the AZFc region compared to normozoospermic controls. There were no significant differences between patients and controls according to the partial duplications of the AZFc region. Alterations in the dose of the DAZ gene were shown to confer an increased risk These results confirm that a deficit in the gene content of the AZFc region plays an important role in the etiopathogenesis of TTCG. In particular, the gr / gr deletion confers a significant risk for the development of TTCG regardless of seminal parameters. Environmental factors are also involved in the aetiopathogenesis of TTCG, especially if they interfere in a specific period of testicular development, in the so-called "masculinization programming window" (MPW). A hormonal imbalance in this period compromises the correct function of the fetal Sertoli and Leydig cells, causing the testicular dysgenesis syndrome (TDS). The anogenital distance (DAG) is considered a biomarker of the action of androgens during MPW. The shorter DAG has been related to all components of the SDT, except the TTCG. The second part of this thesis assesses the association between the DAG and the TTCG. It also evaluates the role of the CAG polymorphism of the AR gene in the development of TTCG and DAG. 156 patients with TTCG and 110 healthy normozoospermic controls were analyzed. A significantly shorter anopeneal distance (DAGap) and anoscrotal distance (DAGas) were observed in TTCG compared to controls. Cut-off points were defined (DAGap: 130mm; DAGas: 53mm) that indicate a greater risk of TTCG in those individuals who are below these values. No relationship was found between the CAG polymorphism and the TTCG or the length of the DAG. In conclusion, the data reveal that patients with a shorter DAG have a higher risk of TTCG, supporting the theory about the influence of androgen imbalance during fetal development on the etiopathogenesis of TTCG.
So, Hon-cheong, i 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.
Pełny tekst źródłaBeauchamp, Nicholas James. "Molecular genetic basis of inherited thrombophilia". Thesis, University of Sheffield, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.287349.
Pełny tekst źródłaMayosi, 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.
Pełny tekst źródłaMaude, 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.
Pełny tekst źródłaPosthumus, Michael. "Genetic risk factors for anterior cruciate ligament ruptures". Doctoral thesis, University of Cape Town, 2009. http://hdl.handle.net/11427/3195.
Pełny tekst źródłaIncludes bibliographical references (p. 197-215).
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 basic structural and functional unit of ligaments, namely the collagen microfibril.
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.
Pełny tekst źródłaYlönen, S. (Susanna). "Genetic risk factors for movement disorders in Finland". Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526223988.
Pełny tekst źródłaTiivistelmä Parkinsonin tauti ja Huntingtonin tauti ovat hermostoa rappeuttavia eteneviä liikehäiriösairauksia, jotka tyypillisesti ilmenevät aikuisiällä. Tässä tutkimuksessa selvitettiin näiden kahden liikehäiriösairauden geneettisiä riskitekijöitä suomalaisilla potilailla. Tutkimme potilaita, joilla oli varhain alkava Parkinsonin tauti tai myöhään alkava Parkinsonin tauti sekä väestökontrolleja. GBA-geenin p.L444P mutaation havaittiin lisäävän Parkinsonin taudin riskiä. Kaksi Parkinsonin tautia sairastavaa potilasta oli yhdistelmäheterotsygootteja haitallisten POLG1-geenin varianttien suhteen ja harvinaiset POLG1 CAG toistojaksovariantit assosioituivat Parkinsonin tautiin. Tutkittuja variantteja SMPD1-, LRRK2- ja CHCHD10-geeneissä ei löydetty tästä aineistosta lainkaan, mikä viittaa siihen, että ne puuttuvat suomalaisesta väestöstä tai ovat harvinaisia. Huntingtonin tautia sairastavilta potilailta tutkittiin HTT-geenin haploryhmiä ja niiden vaikutusta Huntingtonin tautia aiheuttavan pidentyneen toistojakson epästabiiliuteen. Haploryhmä A oli suomalaisessa väestössä harvinainen verrattuna eurooppalaiseen väestöön ja se oli huomattavasti yleisempi Huntingtonin tautipotilailla kuin väestössä. Toistojakson epästabiiliuteen vaikuttivat tietyt HTT-geenin haplotyypit samoin kuin sen vanhemman sukupuoli, jolta pidentynyt toistojakso periytyy. POLG1 yhdistelmäheterotsygoottien katsottiin aiheuttavat Parkinsonin tautia ja harvinaisten POLG1 CAG toistojaksovarianttien todettiin assosioituvan Parkinsonin tautiin Suomessa. GBA p.L444P mutaatio merkittävästi yleisempi Parkinsonin tautipotilailla kuin kontrolleilla, mikä viittaa siihen, että se on Parkinsonin taudin riskitekijä. Huntingtonin tautiin assosioituvan haploryhmä A:n matala frekvenssi selittää taudin vähäistä esiintyvyyttä Suomessa. Paternaalinen periytyminen ja haplotyyppi A1 lisäsivät HTT-geenin toistojakson pidentymisen riskiä. Liikehäiriösairauksilla todettiin Suomessa osittain samanlaisia riskitekijöitä kuin muualla Euroopassa, mutta kaikkia tutkittuja variantteja emme havainneet
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.
Pełny tekst źródłaVossen, 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.
Pełny tekst źródłaØdegård, Rønnaug A. "Preeclampsia - maternal risk factors and fetal growth". Doctoral thesis, Norwegian University of Science and Technology, Department of Cancer Research and Molecular Medicine, 2002. http://urn.kb.se/resolve?urn=urn:nbn:no:ntnu:diva-484.
Pełny tekst źródłaPreeclampsia is a complex and variable maternal disturbance that ranges from a dramatic onset at early gestation to slowly developing symptoms towards term. Hypertension and renal involvement with proteinuria are cardinal signs, which are often accompanied by fluid retention, blood-clotting dysfunction, and reduced organ perfusion. HELLP (haemolysis, elevated liver enzymes, and low platelet count) syndrome is regarded as a variant of preeclampsia, and the fulminante disease, eclampsia, includes convulsions. Preeclampsia is the main cause of maternal and fetal morbidity and mortality in western countries (1, 2), and in Nordic countries, 17 percent of maternal deaths have been ascribed to preeclampsia (2). Antenatal care in Norway includes on average 12 doctor/midwife consultations per pregnancy (3), and since blood pressure monitoring and urinary testing are main aims of the consultations, preeclampsia is a pregnancy complication that also generates substantial societal costs.
Paper II, III, IV and V reproduced with permission of Elsevier, sciencedirect.com
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.
Pełny tekst źródła