Biomedical Engineering and Bioengineering Commons^™

Factors Associated With Mutations: Their Matching Rates To Cardiovascular And Neurological Diseases, Hannah B. Lucas, Ian Mcknight, Regan Raines, Abdullah Hijazi, Christoph Hart, Chan Lee, Do-Gyoon Kim, Wei Li, Peter H. U. Lee, Joon W. Shim

Biomedical Engineering Faculty Research

Monogenic hypertension is rare and caused by genetic mutations, but whether factors associated with mutations are disease-specific remains uncertain. Given two factors associated with high mutation rates, we tested how many previously known genes match with (i) proximity to telomeres or (ii) high adenine and thymine content in cardiovascular diseases (CVDs) related to vascular stiffening. We extracted genomic information using a genome data viewer. In human chromosomes, 64 of 79 genetic loci involving >25 rare mutations and single nucleotide polymorphisms satisfied (i) or (ii), resulting in an 81% matching rate. However, this high matching rate was no longer observed as …