Allison Griffin Genetics of Gene Expression in Human Atrial Tissue: A Look at CIS Regulation
SchoolMentor High School • Mentor, Ohio
ProgramScience Internship
MentorJohn Barnard, PhD
DepartmentQuantitative Health Sciences, Cleveland Clinic
Research
Genetics of Gene Expression in Human Atrial Tissue: A Look at CIS Regulation
Hypothesis
Atrial fibrillation or A-fib is the most common heart arrhythmia in the United States. Evidence suggests the
levels of gene expression in human atrial tissue are influenced by single nucleotide polymorphisms (SNPS, variations
in DNA sequence) in close proximity. We hypothesized that transcript levels of some of the proteins in atrial tissue
responsible for atrial function are influenced by single nucleotide polymorphisms (SNPS, variations in DNA sequence)
in close proximity (i.e., in CIS) with the mRNA message transcript.
Methodology
46 samples of human atrial tissue (cardiac surgery) were acquired from the Cleveland Clinic Heart Tissue Bank, and DNA and RNA
were extracted and analyzed by Illumina HR-8 expression microarray SNP microarray, respectively.
Outcomes
We found evidence of CIS regulation of transcription in human atrial tissue on chromosome 4. Some of these CIS regulated
genes may play a role in AF. SNP rs1048140, located in the 3’ UTR region of the LIAS gene, had a strong CIS association with
LIAS transcript levels. LIAS has a plausible role in AF.