Date of Award

2014

Document Type

Thesis

Degree Name

Bachelors

Department

Natural Sciences

First Advisor

McDonald, Patrick

Keywords

Genetics, Lung Cancer, DNA

Area of Concentration

Applied Mathematics

Abstract

In this thesis we investigate the role of genetic variants in epigenetic phenomena. Specifically, we study the correlation between single nucleotide polymorphisms (SNPs), a type of genetic variant, and the epigenetic event DNA methylation. This work is in the context of lung cancer: the genes selected are tumor suppressors related to lung carcinogenesis. In general, disruption of DNA methylation patterns is associated with cancer, and genetic variants are associated with epigenomic variation. Beta regression was used to model the proportion of DNA methylation explained by categorical SNP variables. We provide evidence for SNPs as in-cis genetic determinants for the epigenetic silencing of tumor suppressor genes in lung carcinogenesis. Several findings maintain significance after multiple testing correction. These findings support the hypothesis that genetic variants can influence phenotype through the epigenome.

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