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The Identification of Genetic Risk Factors for Age-Related Macular Degeneration

Kopplin, Laura J.

Abstract Details

2010, Doctor of Philosophy, Case Western Reserve University, Genetics.
Age-Related Macular Degeneration (AMD) is a common, complex disease that is the leading cause of blindness in the elderly in the developed world. The etiology of AMD is multifaceted, with environmental and genetic factors acting against the backdrop of the normal aging process. Given the prevalence of AMD, it is believed that common genetic variants underlie susceptibility for this disease. In my studies, I employed both a candidate gene approach and a genome-wide association testing method to identify variants that modify AMD risk. From these efforts, I discovered a novel protective factor for AMD that implicates melanosome trafficking as a central mechanism contributing to disease pathogenesis. By integrating my findings with current biological evidence from the AMD field, I propose a new model for AMD development in which specific genetic factors control the initiation of early disease events, while other genetic factors regulate progression to late stages of AMD.
Sudha Iyengar, PhD (Advisor)
Mark Adams, PhD (Committee Chair)
Mitch Drumm, PhD (Committee Member)
Allison Hall, PhD (Committee Member)

Recommended Citations

Citations

  • Kopplin, L. J. (2010). The Identification of Genetic Risk Factors for Age-Related Macular Degeneration [Doctoral dissertation, Case Western Reserve University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=case1251752708

    APA Style (7th edition)

  • Kopplin, Laura. The Identification of Genetic Risk Factors for Age-Related Macular Degeneration. 2010. Case Western Reserve University, Doctoral dissertation. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=case1251752708.

    MLA Style (8th edition)

  • Kopplin, Laura. "The Identification of Genetic Risk Factors for Age-Related Macular Degeneration." Doctoral dissertation, Case Western Reserve University, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1251752708

    Chicago Manual of Style (17th edition)