Single nucleotide polymorphism thesis

Genomic dissimilarities between individuals from different geographical regions can potentially unveil something of these processes.

Single nucleotide polymorphism thesis

Single nucleotide polymorphism thesis

Thesis Abstract Cardiovascular disease remains a major cause of mortality and morbidity and is underpinned by Oxidative stress, within which, inactivation of nitric oxide NO by superoxide SO and other reactive oxygen species is characteristic. Evidence is accumulating that polymorphisms of the genes encoding these enzyme systems may play an important role in the pathophysiology of CAD.

Single nucleotide polymorphism thesis

Additionally there has been much recent interest in both biochemical markers of oxidative stress and low grade chronic inflammation as well as a non invasive vascular phenotype, pulse wave analysis.

This thesis reports a series of studies utilising the techniques described in chapter 2 which aimed to ascertain: Whether common single nucleotide polymorphisms of the p22phox gene CYBA and the endothelial nitric oxide synthase gene, NOS3, have an effect upon arterial compliance in patients with coronary artery disease Chapters 4,5 and 6.

In healthy volunteers, free of cardiovascular disease whether a relationship existed between markers of low grade inflammation and Single nucleotide polymorphism thesis stiffness Chapter 7.

The reproducibility of diastolic pulse wave contour analysis and its relation to systolic pulse contour analysis. This clinical study demonstrated that both large C1 and small artery C2 compliance values were reproducible and that there was a significant correlation between both Augmentation Index AIx and C1and AIx and C2 in healthy volunteers and though there was no association between AIx and C1 in patients with coronary artery disease AIx did correlate with C2 in this population.

There was no association observed between this polymorphism and blood pressure or large artery compliance however ANOVA revealed a statistically significant association for TT homozygosity and small artery compliance.

The highest small artery compliance was seen in the patients homozygous for the G allele, an intermediate value observed in heterozygotes and the lowest value demonstrated in patients homozygous for the T allele.

Multiple regression analysis, examining the possible contribution of confounders showed that only small artery compliance was significant when NOS3 GT genotype was assigned as the dependent variable.

The CT single nucleotide polymorphism of the CYBA gene and blood pressure and arterial compliance in patients with coronary artery disease. The presence of the T allele was associated with significantly higher systolic blood pressure. Patients homozygous for the C allele had lower systolic blood pressure than heterozygotes and patients homozygous for the T allele.

There was no statistically significant effect upon diastolic blood pressure but there was however a significant association observed between the T allele and pulse pressure. The former displayed higher large and small artery compliance than the latter group.

Multiple regression analysis, examining the possible contribution of confounders showed that only the large and small artery compliance values contributed significantly when genotype was assigned as the dependent variable.

Chapter 7 Chronic low grade inflammation and insulin resistance and arterial compliance in healthy volunteers. Augmentation index showed only an association with ICAM1.

There was no significant correlation between Adiponectin levels and either of the arterial stiffness parameters studied. Conclusions Diastolic pulse wave contour analysis is a reproducible assessment of arterial stiffness with the potential to represent a high fidelity non invasive vascular phenotype.

Small artery compliance is correlated with Augmentation Index and although the measurements are not analogous they both represent useful means of acquiring quantitative data concerning arterial stiffness.

The T allele of the p22phox gene, CYBA, is associated with decreased large but not small artery compliance and increased systolic and pulse pressure. Homozygosity for a common NOS3 polymorphism GT was associated with decreased small artery compliance but not with large artery compliance or blood pressure.

The markers of chronic inflammation Interleukin 6, ICAM and hsCRP but not Adiponectin, a marker of Insulin resistance, predict small artery compliance in healthy individuals apparently free of vascular disease.Evaluation of single nucleotide polymorphisms associated with fertility and production traits in A Thesis Submitted to the Graduate Faculty of the Single nucleotide polymorphism ID, allele substitution, and forward and reverse.

ANALYSIS OF SINGLE NUCLEOTIDE POLYMORPHISM PANELS FOR BOVINE DNA IDENTIFICATION by Kimberly Blanchard A thesis submitted in partial fulfillment. Gene Set Enrichment Analysis Using Single Nucleotide Polymorphisms to Identify Genes Associated with Residual Feed Intake in Cattle Lance Kidder Human, and Natural Resource Sciences.

2 Advisor Signatures As thesis advisors for Lance Kidder, we have read this document and find it satisfactory. X X Kristen Johnson Date Holly.

For my thesis proposal, I will build and assess new tools and methodology to enhance genomic containing positions of single nucleotide polymorphisms (SNPs) prompted the application of the additive quantitative genetics model to many (> 10,) markers simultaneously (Meuwissen, Hayes and Goddard ).

This approach can be represented with. Single Nucleotide Polymorphism SNPs are the most common single base variations in the human population. A SNP is a variation where two alternative bases occur at appreciable frequency (the frequency of each base is above 1% in a population) (Lander et.

al ). Most of these variants are neutral, but some are functional. Methods for demographic inference from single-nucleotide polymorphism data Mair, Colette () Methods for demographic inference from single-nucleotide polymorphism data.

PhD thesis, University of Glasgow.

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