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2018 Abstracts

Determination of the methylation status of the ACE gene

Jace Buxton, Dixie State University

The ACE gene plays a key role in regulating blood pressure through the Renin-angiotensin-aldosterone system. Within the ACE gene, there are two alleles that have various phenotypic effects: the insertion (I) and deletion (D) alleles. The I allele contains a 287 base pair transposon inserted within an intron, while the D allele lacks this transposon. Carriers of both D alleles have increased ACE activity, which is associated with an increased risk of coronary heart disease and other cardiovascular diseases, while carriers of both I alleles have decreased ACE activity. Currently, the mechanism behind both actions is not understood. As transposons are often targets for DNA methylation, methylation status of the ACE gene may influence the activity of the gene and may contribute to ACE activity levels. In this study, we evaluated the methylation status of carriers of the I and D allele to determine if the I allele is targeted for DNA methylation. The results of this study may have implications in the transcriptional activity of other genes where transposons are present. If methylation spreads from the transposon to other portions of the gene body in ACE, then it can be inferred that similar effects would occur in other genes containing transposons.