Analysis of alpha defensin variation in samples from periodontitis patients

Background: In recent years, many studies have found positive associations between copy number variants and predisposition to human complex disease. On chromosome 8p23.1, a copy number variation locus, named DEFA1A3 is associated with susceptibility to IgA nephropathy, and is more generally thought...

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Main Author: Moise, Eric Constantin
Format: Thesis (University of Nottingham only)
Language:English
Published: 2018
Online Access:https://eprints.nottingham.ac.uk/52956/
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author Moise, Eric Constantin
author_facet Moise, Eric Constantin
author_sort Moise, Eric Constantin
building Nottingham Research Data Repository
collection Online Access
description Background: In recent years, many studies have found positive associations between copy number variants and predisposition to human complex disease. On chromosome 8p23.1, a copy number variation locus, named DEFA1A3 is associated with susceptibility to IgA nephropathy, and is more generally thought to be involved in the host immune response in people with periodontitis. Objective: The main objective of this study was to undertake DEFA1A3 copy number measurement in 744 European samples with periodontitis and also to determine if there is an association between the copy numbers and periodontitis. Results and Conclusions: In this study we have used the Paralogue Ratio Tests to type 741 DNA samples from individuals with periodontitis and assessed the accuracy in typing copy number. As a second part of our work, we have found that there is an association between copy number distribution and periodontitis, but further work needs to be done in order to fully confirm and explore this conclusion.
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spelling nottingham-529562025-02-28T14:11:44Z https://eprints.nottingham.ac.uk/52956/ Analysis of alpha defensin variation in samples from periodontitis patients Moise, Eric Constantin Background: In recent years, many studies have found positive associations between copy number variants and predisposition to human complex disease. On chromosome 8p23.1, a copy number variation locus, named DEFA1A3 is associated with susceptibility to IgA nephropathy, and is more generally thought to be involved in the host immune response in people with periodontitis. Objective: The main objective of this study was to undertake DEFA1A3 copy number measurement in 744 European samples with periodontitis and also to determine if there is an association between the copy numbers and periodontitis. Results and Conclusions: In this study we have used the Paralogue Ratio Tests to type 741 DNA samples from individuals with periodontitis and assessed the accuracy in typing copy number. As a second part of our work, we have found that there is an association between copy number distribution and periodontitis, but further work needs to be done in order to fully confirm and explore this conclusion. 2018-12-13 Thesis (University of Nottingham only) NonPeerReviewed application/pdf en arr https://eprints.nottingham.ac.uk/52956/1/Thesis%20-%20Eric%20Moise%20Constantin.pdf Moise, Eric Constantin (2018) Analysis of alpha defensin variation in samples from periodontitis patients. MRes thesis, University of Nottingham.
spellingShingle Moise, Eric Constantin
Analysis of alpha defensin variation in samples from periodontitis patients
title Analysis of alpha defensin variation in samples from periodontitis patients
title_full Analysis of alpha defensin variation in samples from periodontitis patients
title_fullStr Analysis of alpha defensin variation in samples from periodontitis patients
title_full_unstemmed Analysis of alpha defensin variation in samples from periodontitis patients
title_short Analysis of alpha defensin variation in samples from periodontitis patients
title_sort analysis of alpha defensin variation in samples from periodontitis patients
url https://eprints.nottingham.ac.uk/52956/