Date of Award

2014

Document Type

Thesis

Degree Name

Bachelors

Department

Natural Sciences

First Advisor

McDonald, Patrick

Keywords

Biology, Genetics, RNA, E. Coli, Escherichia Coli

Area of Concentration

Biochemistry

Abstract

This thesis examined whether CNVs have a statistically significant effect on the methylation status of a select group of genes previously found to have an association with lung cancer. Data from 1200 genotyped sputum samples from 1200 individuals of the Lovelace Smokers Cohort was analyzed to find the copy number variant composition of each sample. An association analysis between the found CNVs and data on each sample from a 12-gene methylation panel was then performed to determine any statistical significance between CNVs and the methylation phenotype. An ontology association analysis using the GREAT gene ontology tool was then performed on any SNP found to be significant in order find the genomic location of that SNP and assess any association it may have with any genes or gene regulatory regions. Even though the results of the CNV-methylation analysis lack statistical significance after Bonferroni adjustment, there is still valuable information in the ranking of association in the GREAT results. Many of the significantly enriched annotations were highly significant after GREAT multiple testing correction. While this study was unable to significantly reject the null hypothesis of no association between CNVs and methylation of the 12-gene panel, the results of the GREAT analysis warrant further work on this type of analysis.

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