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Thèses sur le sujet « Genetic polymorphisms »

Auteur : Grafiati

Publié le 4 juin 2021

Mis à jour le 31 juillet 2024

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1

Karlsson, Sten. « Dynamics of genetic polymorphisms ». Doctoral thesis, Norwegian University of Science and Technology, Department of Biology, 2005. http://urn.kb.se/resolve?urn=urn:nbn:no:ntnu:diva-1992.

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2

Howell, Bruce F. « The Use of Genetic Polymorphisms and Discriminant Analysis in Evaluating Genetic Polymorphisms as a Predictor of Population ». Thesis, University of North Texas, 2002. https://digital.library.unt.edu/ark:/67531/metadc3138/.

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Discriminant analysis is a procedure for identifying the relationships between qualitative criterion variables and quantitative predictor variables. Data bases of genetic polymorphisms are currently available that group such polymorphisms by ethnic origin or nationality. Such information could be useful to entities that base financial determinations upon predictions of disease or to medical researchers who wish to target prevention and treatment to population groups. While the use of genetic information to make such determinations is unlawful in states and confidentiality and privacy concerns abound, methods for human “redlining” may occur. Thus, it is necessary to investigate the efficacy of the relationship of certain genetic information to ethnicity to determine if a statistical analysis can provide information concerning such relationship. The use of the statistical technique of discriminant analysis provides a tool for examining such relationship.

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3

黎子韻 et Tsz-wan Kristi Lai. « Genetic polymorphisms in ovarian cancer ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B31970618.

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4

Lai, Tsz-wan Kristi. « Genetic polymorphisms in ovarian cancer ». Hong Kong : University of Hong Kong, 2002. http://sunzi.lib.hku.hk/hkuto/record.jsp?B25176493.

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5

Wasfi, Yasmine S. « Apoptosis-related genetic polymorphisms in sarcoidosis / ». Connect to full text via ProQuest. IP filtered, 2005.

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6

Marsh, Howard Piers. « Genetic polymorphisms in bladder cancer angiogenesis ». Thesis, University of Bristol, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.428513.

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7

Loh, Yong-Hwee Eddie. « Genetic variation in fast-evolving East African cichlid fishes : an evolutionary perspective ». Diss., Georgia Institute of Technology, 2011. http://hdl.handle.net/1853/41148.

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Cichlid fishes from the East African Rift lakes Victoria, Tanganyika and Malawi represent a preeminent example of replicated and rapid evolutionary radiation. In this single natural system, numerous morphological (eg. jaw and tooth shape, color patterns, visual sensitivity), behavioral (eg. bower-building) and physiological (eg. development, neural patterning) phenotypes have emerged, much akin to a mutagenic screen. This dissertation encompasses three studies that seek to decipher the underpinnings of such rapid evolutionary diversification, investigated via the genetic variation in East African cichlids. We generated a valuable cichlid genomic resource of five low-coverage Lake Malawi cichlid genomes, from which the general properties of the genome were characterized. Nucleotide diversity of Malawi cichlids was low at 0.26%, and a sample genotyping study found that biallelic polymorphisms segregate widely throughout the Malawi species flock, making each species a mosaic of ancestrally polymorphic genomes. A second genotyping study expanded our evolutionary analysis to cover the entire East African cichlid radiation, where we found that more than 40% of single nucleotide polymorphisms (SNPs) were ancestral polymorphisms shared across multiple lakes. Bayesian analysis of genetic structure in the data supported the hypothesis that riverine species had contributed significantly to the genomes of Malawi cichlids and that Lake Malawi cichlids are not monophyletic. Both genotyping studies also identified interesting loci involved in important sensory as well as developmental pathways that were well differentiated between species and lineages. We also investigated cichlid genetic variation in relation to the evolution of microRNA regulation, and found that divergent selection on miRNA target sites may have led to differential gene expression, which contributed to the diversification of cichlid species. Overall, the patterns of cichlid genetic variation seem to be dominated by the phenomena of extensive sharing of ancestral polymorphisms. We thus believe that standing genetic variation in the form of ancestrally inherited polymorphisms, as opposed to variations arising from new mutations, provides much of the genetic diversity on which selection acts, allowing for the rapid and repeated adaptive radiation of East African cichlids.

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8

Lanchbury, J. S. S. « Studies of genetic polymorphisms in human populations ». Thesis, University of Newcastle Upon Tyne, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.371918.

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9

Hennig, Branwen Johanna Wanda. « Genetic polymorphisms and early-onset periodontal diseases ». Thesis, University of Newcastle Upon Tyne, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.311107.

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10

Wang, Wei. « Plasminogen polymorphism in dairy cattle ». Thesis, McGill University, 1994. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=26174.

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A genetic approach to lowering protease (plasmin) levels in milk, requires the presence of polymorphism of bovine plasminogen. This study was conducted to determine to what extent genetic polymorphism exists in dairy cattle. Bovine plasminogen was first purified from Holstein cow plasma by affinity chromatography on Lysine-Sepharose and antibodies to bovine plasminogen were raised by monthly intramuscular injection of the isolated bovine plasminogen into rabbits. For plasminogen phenotyping, blood samples were collected at random from 50 Holstein and Ayrshire cattle, and plasminogen was isolated from the plasma using lysine-Sepharose and then treated with neuraminidase. After separation by isoelectric focusing (pH 3.5-9.5) in polyacrylamide gels, Plasminogen polymorphs were detected immunologically using rabbit anti-bovine plasminogen antibodies. Additionally, the plasminogen isoforms were evaluated with a functional assay (caseinolytic overlay technique) after activation of the plasminogen with urokinase. Six plasminogen phenotypes were identified which represent products of 5 variant alleles. The 5 plasminogen variants were characterized based on their isoelectric points and designated PLG A$ sb2$ (pI 6.5 and 7.0), B$ sb2$ (pI 7.6 and 7.8), C$ sb1$ (pI 6.8), D$ sb2$ (pI 7.8 and 8.0), and E$ sb2$ (pI 6.8 and 7.0). PLG A$ sb2$ and PLG B$ sb2$ were the most common variants in these cattle. The 6 phenotypes were $ rm A sb2A sb2, B sb2B sb2, A sb2B sb2, B sb2C sb1, A sb2D sb2 and D sb2E sb2$. The phenotypic frequencies in Holstein and Ayrshire were very different, $ rm A sb2A sb2 and B sb2B sb2$ being respectively the most frequent phenotype. In addition, DNA polymorphism at bovine plasminogen gene was detected when genomic DNA was digested with the restriction enzyme Msp I and hybridized with mouse plasminogen cDNA. This is the first description of plasminogen polymorphism reported in dairy cattle. If different variants have altered activity, the detrimental effect

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11

Stolk, Megan. « Characterisation of novel TAC3 a d TACR3 gene variants and polymorphisms in patients with pre-eclampsia / ». Thesis, Stellenbosch : University of Stellenbosch, 2007. http://hdl.handle.net/10019.1/1748.

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Thesis (MSc (Genetics))—University of Stellenbosch, 2007.
In South Africa, pre-eclampsia is the second highest cause of maternal deaths. The incidence of this disease in the Western Cape alone is 6.8% and places a large burden of health care facilities. The placenta and implantation thereof is thought to play the most significant role in the onset of this disease. Among the many theories for its aetiology, is the acknowledged two - stage theory. This is based on evidence that pre-eclamptic placentas demonstrate altered remodelling and invasion into the uterine endometrium and myometrium. The sub-optimal endometrium invasion leads to less oxygenation of the placental environment causing transient hypoxia. Consequently, the placenta is thought to release unknown factors into the maternal circulation which then culminates in clinical features associated with pre-eclampsia. Neurokinin B is thought to be one of these placental factors and subsequently binds to the NKB receptor in the maternal system. Endothelium-derived nitric oxide synthase has recently been shown to activate this receptor. The aim of this study was to investigate the role of neurokinin B (TAC3) and the neurokinin B receptor (TACR3) genes in the predisposition of pre-eclampsia and their interaction with eNOS in the South African coloured population together with a matched control cohort.

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12

Ting, Tung-yuen, et 丁東源. « Analysis of genetic polymorphisms in skeletal class I crowding ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2011. http://hub.hku.hk/bib/B47147817.

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13

Chu, Sok-fan, et 朱淑芬. « Association between {221}-Chemokine gene polymorphisms and tuberculosis ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B35736136.

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14

Carter, Deidre Anne. « DNA polymorphisms as genetic markers in Phytophthora infestans ». Thesis, Imperial College London, 1991. http://hdl.handle.net/10044/1/46699.

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15

Sanyal, Somali. « Effect of genetic polymorphisms on urinary bladder neoplasms / ». Stockholm, 2007. http://diss.kib.ki.se/2007/978-91-7357-081-7/.

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16

Tso, Hoi-wan, et 曹凱韻. « Interleukin 12P40 genetic polymorphisms and tuberculosis in Chinese ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B29246933.

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17

Fogarty, Damian Gerard. « The association of genetic polymorphisms with diabetic nephropathy ». Thesis, Queen's University Belfast, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.318770.

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18

Gao, Bo. « Genetic polymorphisms and chemotherapy response in ovarian cancer ». Thesis, The University of Sydney, 2014. http://hdl.handle.net/2123/12884.

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Epithelial ovarian cancer (EOC) is usually treated with paclitaxel and carboplatin combination. Germline genetic variations may affect drug clearance therefore response. ABCB1 (ATP-binding cassette B1) is an efflux transporter of paclitaxel. We found an association between ABCB1 polymorphisms and survival in EOC patients. In lymphoblastoid cell lines (LCLs), ABCB1 expression correlated with transporter activity and paclitaxel sensitivity, but not with ABCB1 polymorphisms. In a prospective pharmacokinetic study, an association was identified between ABCB1 genotypes and paclitaxel clearance in the Dutch cohort, but not in the Australian cohort. The ABCC2 is an efflux transporter of carboplatin. A close correlation between ABCC2 mRNA expression and carboplatin sensitivity was seen in LCLs, but not in ovarian cancer cell lines. In EOC tumour samples, there was an association between ABCC2 immunohistochemical staining and survival. A genome wide association study (GWAS) approach was used to complete a genomic scan of 719,665 polymorphisms. Four SNPs in ABCC2 were associated with carboplatin clearance (p = 5.1 × 106). A novel SNP (rs17130142) was found to be associated with paclitaxel disposition with genome-wide significance (p = 2×109). Overall, data presented in this thesis add to increasing evidence that germline polymorphisms can affect drug disposition in EOC patients.

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19

Coller, Janet K. « The Influence of the CYP2C19 and CYP2D6 genetic polymorphisms on oxidative drug metabolism ». Title page, contents and abstract only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phc6968.pdf.

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Amendements: leaves 252-254. Copies of author's previously published articles inserted. Bibliography: leaves 226-251. The CYP2C19 and CYP2D6 genetic polymorphisms control the oxidative metabolism of many different drug classes. Populations are separated into groups of extensive metabolisers (EM), poor metabolisers (PM), and in the case of CYP2D6, ultra-rapid metabolisers (UM). In vitro studies using human liver microsomes were conducted to examine the kinetics of the oxidative metabolism of flunitrazepam, and which CYP450 enzymes mediate the oxidative metabolism of flunitrazepam, (S)-mephenytoin and proguanil.

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20

Gerber, Jaclyn. « Cytochrome P450 polymorphisms : relevance in two South African disease populations ». Thesis, Stellenbosch : Stellenbosch University, 2003. http://hdl.handle.net/10019.1/53345.

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Thesis (MSc)--Stellenbosch University, 2003.
ENGLISH ABSTRACT: With knowledge of the human genome increasing constantly we are continually faced with new and potentially groundbreaking methods for managing, treating and/or identifying diseases and predisposition to diseases and conditions at a genetic level. The human cytochrome P450 (CYP) super-family of genes code for enzymes that can participate in metabolism of drugs and foreign chemicals and in steroid synthesis and metabolism. Mutations in these genes may contribute to clinically relevant diseases. In this study, the effects of mutations within four CYP genes were evaluated in two South African disease groups - variegate porphyria and breast cancer. Variegate porphyria (VP) has an unusually high incidence in South Africa due to the R59W founder mutation in the protoporphyrinogen oxidase (PPOX) gene that causes a disruption in the haem biosynthetic pathway. VP presents with variable clinical symptoms and has a relatively low penetrance. It is expected that environmental factors and modifier genes play a role in the clinical expression of VP. CYP genes are implicated as candidate modifier genes for the expression of VP due to the function they have in metabolising many drugs contraindicated in porphyria patients, and the necessity of haem binding to the apoprotein to produce a functional CYP enzyme. This is the first study to investigate CYPs as possible modifier genes for VP clinical expression. Six CYP polymorphisms (CYPIAlml, CYPIAlm2, CYPIA2 - 734 C>A, CYPIBI 8372 A>C, CYP2D6*3, CYP2D6*4), associated with four CYP loci, were genotyped in a VP population and a suitable control population. The results observed are suggestive of CYPIAlml and CYPIBI playing a role as modifiers for the clinical expression of VP as they were significantly associated (PA and CYPIBI 8372 A>C). This represents the first investigation of the potential role of CYPs as breast cancer risk modifiers in the two South African populations. Significant differences were observed (PC polymorphism in the population of mixed ancestry. Vast differences in allele frequencies were also observed between the two groups of breast cancer populations. These results emphasize the importance of population-based risk assessment when genetic testing and counselling for complex disease susceptibility is offered. The results of this study provide the first evidence suggesting a role for CYPs in modifying the clinical expression of VP and in acting as risk factors for developing breast cancer in a South African population.
AFRIKAANSE OPSOMMING: Met die konstante toename van kennis oor die mensgenoom kom ons voortdurend te staan voor nuwe metodes vir die beheer, behandeling en/of identifikasie van siektes en vatbaarheid vir siektes op 'n genetiese vlak. Die mens sitochroom P450 geensuperfamilie kodeer vir ensieme betrokke in die metabolisme van medisyne en ander chemiese stowwe en steroïed-sintese en -metabolisme. Mutasies in hierdie gene kan 'n bydrae lewer tot kliniese relevante siektes. In hierdie studie is die effek van mutasies in vier sitochroom gene bestudeer in twee Suid-Afrikaanse siekte groepe, variegate porfirie en borskanker. Variegate porfirie (VP) het 'n besonderse hoë frekwensie in Suid-Afrika as gevolg van die R59W stigter-mutasie in die protoporfirinogeen oksidase (PPOX) geen. Hierdie mutasie lei tot 'n versteuring in die heem biosintese padweg. VP presenteer met variërende kliniese simptome en het 'n betreklike lae penetrasie. Daar word vermoed dat omgewingsfaktore en kandidaat modifiserende gene 'n rol speel in die kliniese beeld van VP. Sitochroom P450 gene is geïdentifiseer as kandidaat modifiserende gene as gevolg van hulle rol in die metabolisme van verbode medikasie vir porfirie pasiënte, asook die binding van heem aan die apoproteïen wat noodsaaklik is vir die produksie van funksionele sitochroom P450 ensiem. Hierdie is die eerste studie wat sitochroom P450 gene as moontlike modifiserende gene vir die kliniese uitdrukking van VP ondersoek. Ses sitochroom P450 polimorfismes (CYPIAlml, CYPIAlm2, CYPIA2 -734 C>A, CYPIBI 8372 A>C, CYP2D6*3, CYP2D6*4) is ondersoek in beide 'n VP populasie en 'n geskikte kontrole populasie. Die resultate suggereer 'n rol vir CYPIAlml en CYPIBI in die modifisering van die kliniese uitdrukking van VP aangesien hulle betekenisvolle assosiasie (PA, CYPIBI 8372 A>C). Hierdie studie verteenwordig die eerste ondersoek na die potensiële rol van sitochroom P450s as risiko-modifiserende faktore vir borskanker in die twee populasies. Betekenisvolle verskille (PC polimorfisme in die gemengde herkoms populasie. Beduidende verskille in alleel frekwensies is ook waargeneem tussen die twee borskanker populasies. Hierdie resultate beklemtoon die belangrikheid van populasie gebaseerde risiko-beraming wanneer genetiese toetse en voorligting vir komplekse siekte-vatbaarheid aangebied word. Die resultate van hierdie studie bied die eerste getuienis dat sitochroom P450s 'n rol kan speel in die modifisering van die kliniese beeld van VP en ook kan optree as as risiko faktore vir die ontwikkeling van borskanker in 'n Suid-Afrikaanse populasie.

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21

Chen, Pak-lam Sammy, et 陳栢林. « Influence of microsomal triglyceride transfer protein (MTP) gene polymorphism on plasma lipids and lipoproteins in southern Chinese ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B31980922.

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22

Higashi, Mitchell K. « Assessing the clinical and economic impact of genetic polymorphisms / ». Thesis, Connect to this title online ; UW restricted, 2001. http://hdl.handle.net/1773/7975.

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23

Chai, Lei, et 柴磊. « The association between Fc gamma receptor gene polymorphisms and periodontitis ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B40687612.

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24

Ye, Z. « Genetic polymorphisms and cancer susceptibility database construction and analysis of genetic association studies ». Thesis, Swansea University, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.636707.

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The sequencing of the human genome and the ongoing discovery of single nucleotide polymorphisms (SNPs) provide us with new opportunities to understand the genetic basis for individual differences in susceptibility to disease, especially to cancer. Identification of individual's risk of developing cancer is a challenging goal of molecular epidemiology. In this thesis, a genetic polymorphism and cancer susceptibility database has been constructed and provided a valuable resource used to better understand individual cancer risk. Meta-analyses of cancer association studies give important clues for cancer risk assessment in molecular epidemiology. It can provide a systematic and quantitative approach to the summary of results from the different studies. This approach has been employed in my study to explore possible associations between the specific polymorphisms and cancer risk. Meanwhile, the associations between polymorphisms in the genes CYP1A1, GSTM1, GSTT1 and colon cancer risk in the UK population have also been examined in my study, EST analysis and laboratory studies approach were successfully employed to identify novel single nucleotide polymorphisms in the human p53R2 and Reprimo genes. My study gave strong evidence that EST analysis is a powerful tool for the detection of new polymorphisms in the human genome.

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25

Liu, Shuk Ming. « Single nucleotide polymorphism in human microsomal glutathione s-transferase gene and colorectal cancer / ». View Abstract or Full-Text, 2003. http://library.ust.hk/cgi/db/thesis.pl?BIOL%202003%20LIU.

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Thesis (M. Phil.)--Hong Kong University of Science and Technology, 2003.
Includes bibliographical references (leaves 95-105). Also available in electronic version. Access restricted to campus users.

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26

Ulusoy, Gulen. « Genetic Polymorphisms Of Alcohol Inducible Cyp2e1 In Turkish Population ». Master's thesis, METU, 2005. http://etd.lib.metu.edu.tr/upload/12604747/index.pdf.

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Cytochrome P4502E1 (CYP2E1), the ethanol-inducible isoform of cytochrome P450 superfamily, catalyzes many low molecular weight endogenous and exogenous compounds, including ethanol, acetone, drugs like acetaminophen and chlorzoxazone, and industrial solvents like benzene and styrene, most of which are carcinogenic. Besides, it has a high capacity to produce reactive oxygen species. CYP2E1 is induced by ethanol and isoniazid, as well by some pathophysiological conditions like diabetes and starvation. CYP2E1 gene shows genetic polymorphisms which are thought to play a major role in interindividual variability in drug response and in susceptibility to chemical-induced diseases, like several types of cancers. It is well established that CYP2E1 polymorphisms vary markedly in frequency among different ethnic and racial groups. Therefore, in this study, the frequency of two important CYP2E1 polymorphisms
the single nucleotide polymorphisms C-1019T / G-1259C in 5&rsquo
-flanking region and T7678A poymorphism in intron 6, in Turkish population was investigated. For this purpose, whole blood samples were collected from 132 healthy volunteers representing Turkish population and genomic DNA for each subject was isolated in intact form. The genotypes were determined by PCR amplification of corresponding regions followed by restriction endonuclease RsaI, PstI (for C-1019T / G-1259C SNPs) and DraI (for T7678A SNP) digestions. The genotype frequencies, for C-1019T / G-1259C SNPs, which are in complete linkage disequilibrium, were investigated on 116 DNA samples, and determined as 97.4% for homozygous wild type (c1/c1), 2.6% for heterozygotes (c1/c2) and 0.0% for homozygous mutants (c2c2). The allele frequency of wild type allele (c1) was calculated as 98.7% and that of mutated allele (c2) as 1.3%. The genotype frequencies for T7678A SNP, investigated in 108 DNA samples were determined as 80.6% for homozygous wild type (DD), 19.4% for heterozygotes (CD) and 0.0% for homozygous mutants (CC). The corresponding allele frequencies were 90.3% for wild type allele (D), and 9.7% for mutated allele (C). Genotype frequencies of both polymorphisms fit Hardy-Weinberg equation and showed no significant difference with respect to gender. The genotype distributions of both polymorphisms showed similarity when compared to other Caucasian populations like French, Swedish, German, and Italian populations, while both polymorphisms studied differed significantly from Chilean, Japanese, Taiwanese and Chinese populations, as compared with Chi-Square test.

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27

Ossei-Gerning, Nicholas. « Genetic polymorphisms and the risk of coronary artery disease ». Thesis, University College London (University of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.391615.

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28

Rees, Margaret Tracey. « The influence of genetic polymorphisms on renal allograft survival ». Thesis, University of Bristol, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.434786.

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Hayashi, Satomi. « HYPERHOMOCYSTEINEMIA : GENETIC POLYMORPHISMS AND RISK OF CORONARY ARTERY DISEASE ». Thesis, The University of Arizona, 2003. http://hdl.handle.net/10150/610473.

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This comprehensive literature review focuses on homocysteine, gene polymorphisms related to homocysteine metabolism and their relationship to coronary artery disease (CAD). Currently, CAD is known as a multifactorial genetic disease, resulting from complex interactions between genetic factors and various environmental influences. In recent years, tremendous knowledge about the hereditary aspect of CAD has been gained, including an understanding of CAD as a multifactorial condition resulting from complex interactions between genetic factors and various environmental influences that trigger, accelerate, or exacerbate the disease process. Among the risk factors for CAD, hyperhomocysteinemia has been recognized for its relation to atherosclerotic alterations in the vessels. In addition, gene polymorphisms in methylene - tetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR), methionine synthase (MS), and cystathionine ß - synthase (CßS), which are involved in homocysteine metabolism, have been identified as a result of advances in genetic research related to cardiovascular pathophysiology. In particular, the results of recent salient studies have provided evidence of significant association of these genetic polymorphisms and CAD in Japanese and part of European populations but not in the United States, Australian, and part of European populations. This disparity may explain the variation of prevalence of CAD among different populations. Potential gene - environment interactions may elevate homocysteine levels and increase the risk of CAD. This discussion includes the pathogenesis of hyperhomocysteinemia, definitions of normal and elevated homocysteine levels, the physiological background of homocysteine metabolism, polymorphisms of genes involved in homocysteine metabolism from the perspective of CAD risk, and implications for nursing practice based on emerging information regarding hyperhomocysteinemia as a risk factor for CAD. Findings from these recent studies are important for nurses, clinicians, and researchers to be able to incorporate cardiovascular genetic information in their practice and research and provide more adequate care to reduce the risk for CAD and improve patient outcomes.

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30

Santos, Marina Silva dos. « Genetic susceptibility to thyroid cancer : contributions of RET polymorphisms ». Master's thesis, Universidade da Beira Interior, 2012. http://hdl.handle.net/10400.6/1199.

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Thyroid cancer is the most common malignancy of the endocrine system, represents more than 1% of all malignancies and has an estimated annual incidence of 212,000 cases worldwide. The term differentiated thyroid carcinoma (DTC) comprises the subtypes papillary thyroid carcinoma (PTC) and follicular thyroid carcinomas (FTC), these subtypes represent the two most common subtypes of thyroid cancer (approximately 80% and 10% respectively). Despite its incidence DTCs have a good prognosis with relatively few metastases and deaths associated. The polymorphisms (variants in DNA sequence among individuals that have a frequency of at least 1% in a population) of RET proto-oncogene have been studied in different populations for association with susceptibility to thyroid cancer, but with inconsistent findings mainly in DTC. To clarify the contribution of single locus or haplotypes (polymorphisms that are transmitted through generations as a unit) of RET polymorphisms to genetic susceptibility to DTC among Portuguese patients, we conducted a case–control study by analyzing four well-characterized RET polymorphisms (G691S, L769L, S836S and S904S). To achieve this aim, the RET polymorphisms were genotyped and haplotype frequencies were estimated in a population of 282 individuals with DTC and in a control population of 254 individuals. Allele, genotype and haplotype distributions were compared among cases and controls. Patient population was subdivided according to several clinical parameters and allele, genotype and haplotype distributions were compared among the subgroups. The single locus analysis showed an overrepresentation of the S836S polymorphism in patients when compared to controls. Also the heterozygous genotypes of the G691S/S904S polymorphisms were overrepresented in cases diagnosed after the age of 45 years and the heterozygous genotype of G691S polymorphism revealed an overrepresentation in patients with tumors larger then 10mm of diameter at diagnosis. The haplotype analysis showed an overrepresentation of GGTC haplotype in patients particularly in those diagnosed after the age of 45 years. In conclusion, our data suggest that the S836S polymorphism may be associated with increased risk of DTC. Also the heterozygous genotype of the G691S/S904S polymorphisms seems to be associated with age of onset of DTC and additionally the heterozygous genotype of G691S polymorphism appeared to be in association with tumor size. Finally, one haplotype appears to be associated with increased risk of DTC particularly in those developed in later age (after the age of 45 years). These findings need to be confirmed by larger studies in order re-evaluate the role of these variants in the susceptibility to DTC.
Thyroid cancer is the most common malignancy of the endocrine system, represents more than 1% of all malignancies and has an estimated annual incidence of 212,000 cases worldwide. The term differentiated thyroid carcinoma (DTC) comprises the subtypes papillary thyroid carcinoma (PTC) and follicular thyroid carcinomas (FTC), these subtypes represent the two most common subtypes of thyroid cancer (approximately 80% and 10% respectively). Despite its incidence DTCs have a good prognosis with relatively few metastases and deaths associated. The polymorphisms (variants in DNA sequence among individuals that have a frequency of at least 1% in a population) of RET proto-oncogene have been studied in different populations for association with susceptibility to thyroid cancer, but with inconsistent findings mainly in DTC. To clarify the contribution of single locus or haplotypes (polymorphisms that are transmitted through generations as a unit) of RET polymorphisms to genetic susceptibility to DTC among Portuguese patients, we conducted a case–control study by analyzing four well-characterized RET polymorphisms (G691S, L769L, S836S and S904S). To achieve this aim, the RET polymorphisms were genotyped and haplotype frequencies were estimated in a population of 282 individuals with DTC and in a control population of 254 individuals. Allele, genotype and haplotype distributions were compared among cases and controls. Patient population was subdivided according to several clinical parameters and allele, genotype and haplotype distributions were compared among the subgroups. The single locus analysis showed an overrepresentation of the S836S polymorphism in patients when compared to controls. Also the heterozygous genotypes of the G691S/S904S polymorphisms were overrepresented in cases diagnosed after the age of 45 years and the heterozygous genotype of G691S polymorphism revealed an overrepresentation in patients with tumors larger then 10mm of diameter at diagnosis. The haplotype analysis showed an overrepresentation of GGTC haplotype in patients particularly in those diagnosed after the age of 45 years. In conclusion, our data suggest that the S836S polymorphism may be associated with increased risk of DTC. Also the heterozygous genotype of the G691S/S904S polymorphisms seems to be associated with age of onset of DTC and additionally the heterozygous genotype of G691S polymorphism appeared to be in association with tumor size. Finally, one haplotype appears to be associated with increased risk of DTC particularly in those developed in later age (after the age of 45 years). These findings need to be confirmed by larger studies in order re-evaluate the role of these variants in the susceptibility to DTC.

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Wild, John Benjamin. « An investigation into genetic polymorphisms and abdominal aortic aneurysms ». Thesis, University of Leicester, 2015. http://hdl.handle.net/2381/38838.

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Introduction: A wide variety of genetic polymorphisms have demonstrated a significant association to the disease abdominal aortic aneurysm (AAA). Polymorphisms in rs217120 (Cathepsin C gene CTSC) and rs1466535 (low density lipoprotein receptor related protein 1 gene, LRP1) have both been associated with AAA, rs1466535 from a genome wide association study (GWAS). Materials & Methods: Associations were first confirmed then exons in close proximity to the polymorphisms were re-sequenced in order to detect new mutations. Protein levels were assayed and tissue was stained in order to determine the arterial layer that the LRP1 protein resides within. TaqMan genotyping was undertaken in order to determine allele frequency of the SNPs of interest in cohorts from Belfast (211 AAA, 262 controls), Viborg (473 AAA, 195 controls), Leeds (214 AAA and 249 controls) and Leicester (266 AAA, 143 controls). Subsequently a list of linked SNPs was generated and the same samples were analysed in order to fine map the gene(s) of interest. Samples from Leicester (96 AAA, 96 controls) were sequenced. Serum protein concentrations were measured with an ELISA (43 AAA, 26 controls). Immunohistochemical analysis of aortic biopsies (n = 6) was also performed. Results: rs217120 failed to associate with AAA in 3 of 4 the replication cohorts and meta-analysis of all data was also not significant, odds ratio 1.17 (95% Confidence Interval 0.98-1.39), P value = 0.08. rs1466535 did not significantly associate with AAA in the replication cohorts however when the data was meta-analysed with the discovery phase of the GWAS (1866 AAA, 5435 controls) the association was significant, odds ratio 1.23 (95% Confidence Interval 1.14-1.33), P value 1.25x¹⁰⁻⁷. A second SNP within LRP1, rs11172114, was found to have a more significant association, odds ratio 1.23 (95% Confidence Interval 1.14 to 1.31), P value 3.87x¹⁰⁻⁸. Re-sequencing of the 3 LRP1 exons did not detect any novel mutations. Serum LRP1 levels between cases and controls were not different (mean concentration 583.4 v 631.3ng/ml, P value = 0.69). There was also no significant difference when samples were analysed by SNP genotype, rs1466535 P value = 0.07. Analysis of aortic tissue biopsies did not determine an association between LRP1 genotype and cellular location. Conclusion: SNPs within LRP1 associate with AAA, with rs11172114 being most significant. However the polymorphism is not associated with protein levels in serum and is not clearly localizing to any given layer of the arterial wall. More investigation is required to determine how LRP1 affects aneurysm development and growth.

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Rands, Alison Louise. « Autoantibodies, genetic polymorphisms and clinical subsets in systemic sclerosis ». Thesis, University of Bath, 2001. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.392019.

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Heilbronn, Leonie Kaye. « Gene/environment interactions in human obesity ». Title page, table of contents and summary only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phh466.pdf.

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BERNARDI, JOYCE. « Arrhythmogenic mechanisms in genetic channelopathies ». Doctoral thesis, Università degli Studi di Milano-Bicocca, 2017. http://hdl.handle.net/10281/153192.

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Introduzione: Recentemente, varianti minori di SNP del gene NOS1AP sono stati associati a prolungamento del QT e aumentata incidenza di morte improvvisa in pazienti LQT1. Il gene NOS1AP codifica per la proteina CAPON, che localizza NOS1 in prossimità del reticolo sarcoplasmico (SR). L' attività di NOS1 è importante per la modulazione mediate da NO di ICaL, dei canali RyR2 e di SERCA, interferendo così con la regolazione dell’handling del Ca2+ e la stabilità del SR. Perciò abbiamo ipotizzato che gli SNPs di NOS1AP possano alterare la localizzazione/funzione di NOS1 diminuendo la stabilità del SR. In questo contesto, il prolungamento del QT indotto da mutazione, potrebbe indurre un sovraccarico di Ca2+, il cui effetto pro-aritmico potrebbe essere smascherato da un’alterata localizzazione/funzione di NOS1. Scopo: Valutare l’effetto di cambiamenti nell’attività di NOS1 a livello della stabilità funzionale del SR, della ripolarizzazione e aritmogenesi in un contesto di perdita di IKs (LQT1). Metodi: In miociti ventricolari di cavia soggetti a blocco di IKs (per riprodurre il fenotipo LQT1) e a stimolazione adrenergica (Isoproterenolo, ISO), abbiamo misurato l’attività elettrica, le correnti di membrane e il Ca2+ intracellulare, in condizione basale e dopo inibizione selettiva di NOS1 (SMTC 3µM). Risultati: In condizioni basali, l’inibizione di NOS1 prolunga la durata del PA (APD) (152.6  11.7 ms vs 96.1  9.0 ms; 58.8%. p<0.01), aumenta la densità di ICaL (SMTC vs CTRL: -16.61.2 pA/pF vs -13.51.0 pA/pF; p<0.05) ma non altera ne IKs (SMTC vs CTRL: 2.50.4 pA/pF vs 2.60.2 pA/pF) nè IKr (SMTC vs CTRL: 0.840.04 pA/pF vs 0.910.05 pA/pF). L’isoproterenolo, agonista -adrenergico (ISO, 1nM), induce delayed afterdepolarizations (DADs), un indice di instabilità del SR, in una percentuale significativamente maggiore di cellule trattate con SMTC rispetto a quelle di controllo (93% per SMTC vs 22% per CTRL, p<0.01). Inoltre, il tempo medio di comparsa delle DADs è significativamente ridotto in miociti trattati con SMTC rispetto a quelli di CTRL (25.8 ± 3.8 s e 61.5 ± 15.3 s rispettivamente, p<0.01). In aggiunta, la durata del PA è importante per il verificarsi di questi eventi, poiché il passaggio, in AP clamp, da un PA lungo (140 ms) a uno corto (100 ms) durante applicazione di ISO, abolisce le “transient inward currents” (ITI). Conclusioni: Questi risultati indicano che la mancanza di NOS1 può contribuire al prolungamento dell’APD e aumentare l’influsso di Ca2+; questi effetti compromettono la stabilità del SR in presenza di stimolazione adrenergica. Gli effetti dell’inibizione di NOS1 sono tali da poter spiegare l’effetto aritmogenico dei polimorfismi di NOS1AP.
Background: Recently, minor SNP variants of the NOS1AP gene have been reported to be associated with QT prolongation and increased incidence of sudden death in LQT1 patients. The NOS1AP gene encodes for CAPON protein, that localizes NOS1 close to the sarcoplasmic reticulum (SR). NOS1 activity accounts for NO-mediated modulation of ICaL, RyR2 channels and SERCA, thus interfering with regulation of Ca2+ handling and SR stability. Therefore we hypothesize that NOS1AP SNPs might affect NOS1 localization/function to decrease SR stability. In this setting, mutation-induced QT prolongation would induce Ca2+ overload, whose proarrhythmic effect would be unveiled by abnormal NOS1 localization/function. Aim: To evaluate the effect of changes in NOS1 activity on SR functional stability, repolarization and arrhythmogenesis in the context of IKs deficiency (LQT1). Methods: In guinea-pig ventricular myocytes subjected to IKs blockade (to reproduce the LQT1 phenotype) and adrenergic stimulation (Isoproterenol, ISO), we measured electrical activity, membrane currents and intracellular Ca2+, in basal condition and under selective inhibition of NOS1 (SMTC 3µM). Results: Under basal conditions, NOS1 inhibition prolonged AP duration (APD) (152.6  11.7 ms vs 96.1  9.0 ms; 58.8%. p<0.01), enhanced ICaL density (peak current density at +10 mV, SMTC vs CTRL: -16.61.2 pA/pF vs -13.51.0 pA/pF; p<0.05) and did not affect IKs (SMTC vs CTRL: 2.50.4 pA/pF vs 2.60.2 pA/pF) and IKr (SMTC vs CTRL: 0.840.04 pA/pF vs 0.910.05 pA/pF). The -adrenergic agonist isoproterenol (ISO, 1nM) induced delayed afterdepolarizations (DADs), an index of SR instability, in a significantly greater percentage of SMTC treated cells, compared to control ones (93% for SMTC vs 22% for CTRL, p<0.01). Moreover, the average time of DADs appearance was significantly different between SMTC and CTRL myocytes, with a earlier rise after NOS1 inhibition (25.8 ± 3.8 s and 61.5 ± 15.3 s respectively, p<0.01). Furthermore, the duration of the AP is important for the occurrence of these events, as switching from a long AP (140 ms) to a short AP (100 ms) waveform under ISO application in AP clamp mode, transient inward currents (Iti) were abolished. Conclusions: These results indicate that NOS1 deficiency may contribute to APD prolongation and enhance Ca2+ influx; these effects compromise SR stability in the presence of adrenergic stimulation. The effects of NOS1 inhibition are such as to account for the arrhythmogenic effect of NOS1AP polymorphism.

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Tang, Ling-fung Paul, et 鄧凌鋒. « Dissecting the genetics of complex trait in mouse : an attempt using public resources and in-houseknockout ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B43572170.

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Lam, Yin, et 林燕. « Association of polymorphisms in NRAMP1 gene and host susceptibility totuberculosis ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B3122619X.

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Torkko, Kathleen Carroll. « Vitamin D receptor gene polymorphisms and prostate cancer / ». Connect to full text via ProQuest. IP filtered, 2005.

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Thesis (Ph.D. in Epidemiology) -- University of Colorado at Denver and Health Sciences Center, 2005.
Typescript. Includes bibliographical references (leaves 95-118). Free to UCDHSC affiliates. Online version available via ProQuest Digital Dissertations;

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Lai, Ming-hei, et 賴銘曦. « The role of estrogen receptor alpha & ; beta polymorphisms in osteoporosis ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B45012921.

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Chu, Sok-fan. « Association between [beta]-Chemokine gene polymorphisms and tuberculosis ». Click to view the E-thesis via HKUTO, 2005. http://sunzi.lib.hku.hk/hkuto/record/B35736136.

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Morcillo, Suárez Carlos. « Analysis of genetic polymorphisms for statistical genomics : tools and applications ». Doctoral thesis, Universitat Pompeu Fabra, 2011. http://hdl.handle.net/10803/78126.

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New approaches are needed to manage and analyze the enormous quantity of biological data generated by modern technologies. Existing solutions are often fragmented and uncoordinated and, thus, they require considerable bioinformatics skills from users. Three applications have been developed illustrating different strategies to help users without extensive IT knowledge to take maximum profit from their data. SNPator is an easy-to-use suite that integrates all the usual tools for genetic association studies: from initial quality control procedures to final statistical analysis. CHAVA is an interactive visual application for CNV calling from aCGH data. It presents data in a visual way that helps assessing the quality of the calling and assists in the process of optimization. Haplotype Association Pattern Analysis visually presents data from exhaustive genomic haplotype associations, so that users can recognize patterns of possible associations that cannot be detected by single-SNP tests.
Calen noves aproximacions per la gestió i anàlisi de les enormes quantitats de dades biològiques generades per les tecnologies modernes. Les solucions existents, sovint fragmentaries i descoordinades, requereixen elevats nivells de formació bioinformàtica. Hem desenvolupat tres aplicacions que il•lustren diferents estratègies per ajudar als usuaris no experts en informàtica a aprofitar al màxim les seves dades. SNPator és un paquet de fàcil us que integra les eines usades habitualment en estudis de associació genètica: des del control de qualitat fins les anàlisi estadístiques. CHAVA és una aplicació visual interactiva per a la determinació de CNVs a partir de dades aCGH. Presenta les dades visualment per ajudar a valorar la qualitat de les CNV predites i ajudar a optimitzar-la. Haplotype Pattern Analysis presenta dades d’anàlisi d’associació haplotípica de forma visual per tal que els usuaris puguin reconèixer patrons de associacions que no es possible detectar amb tests de SNPs individuals.

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Klippmark, Therese. « The use of genetic polymorphisms for identification of fused cells ». Thesis, Linköping University, Department of Clinical and Experimental Medicine, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-15351.

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Metastasis is a feared aspect of cancer and little is known about the underlying mechanisms. It is proposed that metastasis is caused by cell fusion between tumour and immune active phagocyte cells, for example macrophages. Such hybrid cells could then develop immortality and chemo tactic mobility. In two different systems it was examined whether it is possible to detect variation in cancer cells that would explain an initial fusion between tumour cells and leukocyte cells. Both systems included use of STR markers. Human colon carcinoma cells, which originally had been grown in nude mice, were investigated with mouse specific primers. These showed no trace of mouse DNA, which they most probably would have if cell fusion had occurred. Human breast cancer cells grown in nude mice, that had received injection of stem cell from male blood, showed no presence of Y-chromosomes. Blood, which was analyzed from one of the mice, showed a weak presence of something else than just mouse DNA. The result was however vague and hard to evaluate, and tries to reproduce the positive outcome failed. No evidence, which indicated that cell fusion occurred, was possible to demonstrate. On the other hand, there are previous studies that show how metastases can express macrophage specific properties, which gives all reason for further investigations.

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Hamajima, Nobuyuki. « Persistent helicobactor pylori infection and genetic polymorphisms of the host ». Nagoya University School of Medicine, 2003. http://hdl.handle.net/2237/5395.

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Löfgren, Sara E. « Functional Role of Genetic Polymorphisms Associated with Systemic Lupus Erythematosus ». Doctoral thesis, Uppsala universitet, Medicinsk genetik, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-166909.

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Systemic lupus erythematosus (SLE) is a chronic and complex autoimmune disorder characterized by a failure in the mechanism of self-tolerance and production of autoantibodies, potentially affecting any organ in the body. The genetic factors behind the disease have been extensively studied in the past years and to date a list of more than 30 loci have been associated with SLE. However, very little is known about the functional significance of the risk variants. In this thesis, we focused on the analysis of SLE-associated variants in three genes: interferon regulatory factor 5 (IRF5), CD226 and the microRNA 146a. In paper I, we analyzed four polymorphisms in the IRF5 gene in a large set of individuals from different populations. We replicated a strong association of a promoter indel in our meta-analysis, but expression analysis indicated that it is rather another variant, SNP rs10954213 in the poly(A) signal of the gene that is in fact the major contributor to the altered gene expression in leukocytes. In manuscript II, we further characterized the regulation of IRF5 expression, showing that this gene can be up-regulated by estrogen in PBMCs and monocytes, regardless of the genotype, which could to some extent, explain the sex-bias of SLE. In paper III, we investigated the association of CD226 with SLE and the potential functional effect of the associated variants. The genetic analysis showed an association of a three-SNP-haplotype located at the 3’UTR region of the gene. The risk haplotype correlated with lower CD226 protein expression on the surface of cytotoxic and helper T cells, as well as in NK T cells. Reporter assays pointed to rs727088 in the 3’UTR as the main responsible variant for altered gene expression. In paper IV, we described the association of a variant in microRNA miR-146a, involved in the interferon pathway, with SLE in Europeans, which could in addition be correlated with decreased expression of both mature and primary miR-146a in leukocytes. In summary, we have investigated the genetic association of three genes with SLE in a large cohort of individuals and identified variants responsible for functional alterations of these genes, providing further insight into the pathogenesis of SLE.

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Kay, Linda. « Influence of genetic polymorphisms on beta2-adrenoceptor expression and function ». Thesis, University of Sheffield, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.489852.

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The Pradrenoceptor gene (ADRB2) is polymorphic at a number of loci both within the promoter and coding region. These polymorphisms have been shown to influence both the function and expression of the Beta2-adrenoceptor. However, these findings have been based on studies in transfected cell lines. The aim of the present study was to establish whether polymorphisms in ADRB2 are similarly influential in primary human cell systems. To this end the model system studied was the Beta2-adrenoceptor expressed in human lung mast cells. This study considered single nucleotide polymorphisms (SNPs) and their possible influence on (a) Beta-agonist-mediated responses of mast cells, (b) desensitisation of Beta2adrenoceptor- mediated responses and, (c) expression of the Betap2-adrenoceptor. In addition to individual SNPs, the effect of multiple SNPs (the extended haplotype) on these parameters was also considered. Eleven previously reported polymorphic positions within the ADRB2 were studied for influences of SNPs on Beta2-adrenoceptor function and expression. The only SNPs that influenced (a) p-agonist-mediated responses were 491 C>T (thrI64ile) and -367 T>C, (b) desensitisation of Beta2-adrenoceptor-mediated responses was 46 G>A (glyI6arg) and (c) expression of the P2-adrenoceptor was 491 C>T (thrI64ile). Analysis of multiple SNPs within the ADRB2 indicated that there were three principal extended haplotypes. However, none ofthese haplotypes influenced Beta2-adrenoceptor function or expression. These findings indicate that certain polymorphisms in the ADRB2 influence human pulmonary Pradrenoceptor function and expression.

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Zheng, Chengyun. « Genetic polymorphisms and natural killer cell activity in multiple myeloma / ». Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-222-1.

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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 included FcR and FPR, NADPH oxidase, IL-6, TNF-a and VDR polymorphisms. Further studies on subsets of patients were conducted to detect associations between these SNPs and classical features of AgP: disease severity, familial aggregation, presence of periodontopathogenic bacteria and neutrophil hyperactivity. The NADPH p22phox 242 polymorphism was associated with the AgP trait and with disease severity. The IL-6 -174 SNP was associated with LAgP and with increased detection of periodontopathogenic bacteria. The FcyRIIIb NA polymorphism was associated with GAgP, while FcyR haplotypes were linked with AgP in Blacks and FcyRIIa was associated with familial aggregation of the AgP phenotype. The VDR Taq-I polymorphism showed a trend for association with AgP in smokers. The overall results of the study provide two possible pathogenic pathways leading to AgP: one is mediated through an excessive inflammatory response triggered by the presence of specific bacteria in individuals with hyper-responsive genotypes (NADPH p22phox 242 T allele, FcyRIIIb NA1 homozygosity, IL-6 -174 G homozygosity) the second is initiated by an increased susceptibility to bacterial colonization (FcyRIIa R homozygosity). In conclusion, this study supports the importance of genetic factors in Aggressive Periodontitis and hypothesizes possible pathogenic mechanisms.

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Wilson, Rachel Erin. « The Genetic Basis for Seed Coat Polymorphisms In Lupinus Perennis ». Bowling Green State University / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1566754995812035.

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Consolini, Nicola <1984&gt. « Chronic Obstructive Pulmonary Disease : Genetic Polymorphisms and Intermediary Metabolism Alterations ». Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amsdottorato.unibo.it/7594/1/CONSOLINI_NICOLA_tesi.pdf.

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Chronic obstructive pulmonary disease (COPD) is a multifactorial disease characterized by airflow obstruction that is usually progressive and associated with an abnormal inflammatory response of the lungs to noxious particles and gases. Cigarette smoke (CS) is the main risk factor, but only a small proportion of smokers (15-20%) develop symptomatic disease, this suggests that there are individual susceptibility factors involved in disease onset and progression. Considering the impact of environmental and genetic risk factors in COPD, this dissertation sought to uncover genetic susceptibility biomarkers in a population affected by COPD and explore tissue metabolic alterations induced by chronic CS exposure in a mouse model. A case-control study was carried on in a COPD population, aiming to investigate whether polymorphisms of microsomal epoxide hydrolase (EPHX1) gene, and related phenotypes, had any bearing on individual susceptibility to COPD onset and severity. DNA of COPD patients and controls was genotyped for functional polymorphisms of EPHX1 gene (exon 3 Tyr113His, exon 4 His139Arg), and haplotype analysis was performed using PCR-RFLP and PCR-RT techniques. The statistical analysis did not show any significant result about the potential relationship between analyzed SNPs, related phenotypes, and COPD risk and severity. Stable isotope-resolved metabolomics approach was used to study glycolytic pathway alterations induced by chronic CS exposure in lung and liver tissue of an emphysema mouse model. C57BL/6J mice, after CS exposure, were injected via IP injection with glucose tracer containing carbon stable isotope - 13C6-glucose – then, tissues were collected and the incorporation of 13C into metabolites was monitored by mass spectrometry and nuclear magnetic resonance spettroscopy. Lung tissue analyses did not reveal any significant alteration in lung tissue glycolysis of mice exposed to CS. On the other hand, CS may contribute to dysregulated glycolysis, PPP, glycogen synthesis and utilization, in emphysema mouse model liver tissue.

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Consolini, Nicola <1984&gt. « Chronic Obstructive Pulmonary Disease : Genetic Polymorphisms and Intermediary Metabolism Alterations ». Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amsdottorato.unibo.it/7594/.

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Chronic obstructive pulmonary disease (COPD) is a multifactorial disease characterized by airflow obstruction that is usually progressive and associated with an abnormal inflammatory response of the lungs to noxious particles and gases. Cigarette smoke (CS) is the main risk factor, but only a small proportion of smokers (15-20%) develop symptomatic disease, this suggests that there are individual susceptibility factors involved in disease onset and progression. Considering the impact of environmental and genetic risk factors in COPD, this dissertation sought to uncover genetic susceptibility biomarkers in a population affected by COPD and explore tissue metabolic alterations induced by chronic CS exposure in a mouse model. A case-control study was carried on in a COPD population, aiming to investigate whether polymorphisms of microsomal epoxide hydrolase (EPHX1) gene, and related phenotypes, had any bearing on individual susceptibility to COPD onset and severity. DNA of COPD patients and controls was genotyped for functional polymorphisms of EPHX1 gene (exon 3 Tyr113His, exon 4 His139Arg), and haplotype analysis was performed using PCR-RFLP and PCR-RT techniques. The statistical analysis did not show any significant result about the potential relationship between analyzed SNPs, related phenotypes, and COPD risk and severity. Stable isotope-resolved metabolomics approach was used to study glycolytic pathway alterations induced by chronic CS exposure in lung and liver tissue of an emphysema mouse model. C57BL/6J mice, after CS exposure, were injected via IP injection with glucose tracer containing carbon stable isotope - 13C6-glucose – then, tissues were collected and the incorporation of 13C into metabolites was monitored by mass spectrometry and nuclear magnetic resonance spettroscopy. Lung tissue analyses did not reveal any significant alteration in lung tissue glycolysis of mice exposed to CS. On the other hand, CS may contribute to dysregulated glycolysis, PPP, glycogen synthesis and utilization, in emphysema mouse model liver tissue.

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Donati, Mauro. « Gene polymorphisms and related cell markers in periodontitis lesions / ». Göteborg : Department of Periodontology, Institute of Odontology, The Sahlgrenska Academy at University of Gothenburg, 2009. http://hdl.handle.net/2077/20298.

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