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The identification of genetic risk f...

Kopplin, Laura Jean.

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The identification of genetic risk factors for age-related macular degeneration.

Record Type:	Language materials, printed : Monograph/item
Title/Author:	The identification of genetic risk factors for age-related macular degeneration./
Author:	Kopplin, Laura Jean.
Description:	180 p.
Notes:	Source: Dissertation Abstracts International, Volume: 71-02, Section: B, page: 0777.
Contained By:	Dissertation Abstracts International71-02B.
Subject:	Biology, Genetics. -
Online resource:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3393091
ISBN:	9781109602470

The identification of genetic risk factors for age-related macular degeneration.
Kopplin, Laura Jean.

The identification of genetic risk factors for age-related macular degeneration. - 180 p.

Source: Dissertation Abstracts International, Volume: 71-02, Section: B, page: 0777.

Thesis (Ph.D.)--Case Western Reserve University, 2009.

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.

ISBN: 9781109602470Subjects--Topical Terms:

1017730
Biology, Genetics.

The identification of genetic risk factors for age-related macular degeneration.
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245 1 4 $a The identification of genetic risk factors for age-related macular degeneration.
300 $a 180 p.
500 $a Source: Dissertation Abstracts International, Volume: 71-02, Section: B, page: 0777.
500 $a Adviser: Mark Adams.
502 $a Thesis (Ph.D.)--Case Western Reserve University, 2009.
520 $a 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.
590 $a School code: 0042.
650 4 $a Biology, Genetics. $3 1017730
650 4 $a Health Sciences, Aging. $3 1669845
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790 1 0 $a Adams, Mark, $e advisor
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792 $a 2009
856 4 0 $u http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3393091