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Single Nucleotide Polymorphisms Influencing the Structure of the Low-Density Lipoprotein Receptor Contributing to Familial Hypercholesterolemia

Hyland, Mary
http://rave.ohiolink.edu/etdc/view?acc_num=walshhonors1605041543618476

Abstract Details

2020, Bachelor of Science, Walsh University, Honors.
This research project centers around single nucleotide polymorphisms (SNPs) that contribute to familial hypercholesterolemia (FH). I will use available genomic databases to investigate which SNPs lead to deleterious mutations in genes that affect the way the body processes cholesterol, leading to hypercholesterolemia. The first step was to determine that the LDLR gene contains the most significant number of SNPs that alter protein function and lead to hypercholesterolemia. This was done using human genomic data from NCBI and running it through programs, such as PROVEAN and PolyPhen-2, for analysis. Once this was established, the next part of the project was to study the structure and function of the protein that this specific gene codes for. Using homology modeling and molecular dynamics in the program YASARA, a likely three-dimensional model was created to study the structure of the protein. The programs MEGA and ConSurf were used for evolutionary analysis to determine which regions of the gene are evolutionarily conserved. Combining this data with information about the common human variants, from the program gnomAD, shows correlations between genetic variants that are both common in the human population and evolutionarily conserved. Incorporating allele frequency data with the conservation data leads to conclusions about which genetic variants significantly alter the structure and function of the protein, leading to the disease state. Overall, this project aggregates and analyzes data to narrow down the most deleterious SNPs in LDLR to better understand the SNPs that contribute to hypercholesterolemia.
Thomas Freeland (Advisor)
Bioinformatics
Hypercholesterolemia

Recommended Citations

Citations

  • Hyland, M. (2020). Single Nucleotide Polymorphisms Influencing the Structure of the Low-Density Lipoprotein Receptor Contributing to Familial Hypercholesterolemia [Undergraduate thesis, Walsh University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=walshhonors1605041543618476

    APA Style (7th edition)

  • Hyland, Mary. Single Nucleotide Polymorphisms Influencing the Structure of the Low-Density Lipoprotein Receptor Contributing to Familial Hypercholesterolemia . 2020. Walsh University, Undergraduate thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=walshhonors1605041543618476.

    MLA Style (8th edition)

  • Hyland, Mary. "Single Nucleotide Polymorphisms Influencing the Structure of the Low-Density Lipoprotein Receptor Contributing to Familial Hypercholesterolemia ." Undergraduate thesis, Walsh University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=walshhonors1605041543618476

    Chicago Manual of Style (17th edition)

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This open access ETD is published by Walsh University Honors Theses and OhioLINK.