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  • Undergraduate Poster Abstracts
  • Genetics

    Room National Harbor 11

    ap025 IDENTIFICATION OF INHERITED GENETIC RISK FACTORS FOR CHRONIC LYMPHOCYTIC LEUKEMIA

    • Cassandra Garner ;
    • Martha Glenn ;
    • Rosalie Waller ;
    • Venkatesh Rajamanickam ;
    • Todd Darlington ;
    • Rob Sargent ;
    • Nicola Camp ;

    n/a

    IDENTIFICATION OF INHERITED GENETIC RISK FACTORS FOR CHRONIC LYMPHOCYTIC LEUKEMIA

    Cassandra Garner, Martha Glenn, Rosalie Waller, Venkatesh Rajamanickam, Todd Darlington, Rob Sargent, Nicola Camp

    The University of Utah, Salt Lake City, UT.

    B-cell lymphoproliferative disorders (lymphoma, multiple myeloma, and leukemia) are cancers of the blood and bone marrow. Taken together, they are the 4th most common cancer. In chronic lymphocytic leukemia (CLL), peripheral B-cells become malignant and accumulate in the blood stream. As CLL progresses, the circulating tumor can invade other parts of the body, including the lymph nodes and spleen. CLL is the most common form of leukemia in adults and is often fatal. The overarching goal of our research is to further understand the molecular genetic mechanisms of CLL. We hypothesize that there are germline genetic variants (common and rare) involved in the risk of CLL. Because the identification of rare, segregating variants is best conducted by pedigree-designs, we are uniquely positioned to use our local Utah genealogical resources to both describe configurations of familial disease and identify high-risk families. Additionally, we have recently expanded our research to include both germline and tumor genomics to better our understanding of the complexity of CLL. Our preliminary analyses of whole exome data have identified coding, nonsynonymous variants in SUMO pathway genes that are shared by all affected individuals in a single high-risk pedigree. We are in the process of Sanger sequencing candidate genes in both germline and tumor DNA from individuals in this pedigree in order to better characterize the potential role of the SUMO pathway in CLL and provide additional support for our findings. This research has great potential to identify variants that can be used to better diagnose and treat CLL.

    ap026 EXPLORING THE MOLECULAR MECHANISMS OF THE MIR-137 PATHWAY IN SCHIZOPHRENIA

    • Ashley Pacheco ;
    • Amanda Law ;

    n/a

    EXPLORING THE MOLECULAR MECHANISMS OF THE MIR-137 PATHWAY IN SCHIZOPHRENIA

    Ashley Pacheco, Amanda Law.

    University of Colorado Anschutz Medical Campus, Aurora, CO.

    The MIR137 genomic region is a top association in several genome wide association studies (GWAS) of schizophrenia (SZ).  MicroRNA-137 (miR-137) is a noncoding RNA that suppresses the function of numerous target genes by binding to mRNA and promoting degradation or preventing translation. MiR-137 has been shown to play a role in neural proliferation, differentiation, and maturation. Associations have been found between GWAS significant SNPs and several SZ phenotypes. These findings establish MIR137 as a strong candidate gene, however, pathophysiological mechanisms are unknown. We hypothesize that GWAS significant SNPs, rs1625579 and rs1198588 increase risk for SZ by altering transcriptional regulation and levels of miR-137, which has downstream consequences for the broader miR-137 target pathway. Bioinformatic analysis of this region using the UCSC Genome Browser indicates complex cis-regulation surrounding the GWAS significant SNPs. A variety of regulatory elements exist within the region, including promoter elements, transcription factor binding sites (TFBS), CpG islands, repeat elements, multiple microRNA transcripts, and unexplored expressed sequence tags. Using Genomatix software (MatInspector), we examined potential TFBSs near the SNPs. Results of this analysis indicate that both SNPs are located within potential TFBS. Presence of TFBSs is dependent on SNP genotype, indicating that transcriptional regulation could be directly affected and highlighting a potential mechanism of risk. Moving forward, we will use state-of-the-art molecular biological techniques, including quantitative RT-PCR, promoter analysis, site directed mutagenesis, and cloning, and patient derived tissues to analyze miR-137 transcriptional regulation and evaluate associations with SNP genotype and/or diagnosis and expression of downstream targets.