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Analysis Of Structural Variation And Mtdna Copy Number In Finns, Liron Ganel
Analysis Of Structural Variation And Mtdna Copy Number In Finns, Liron Ganel
Arts & Sciences Electronic Theses and Dissertations
Cardiovascular disease (CVD) is a complex disease responsible for more deaths worldwide than any other cause according to the World Health Organization. Genetic association studies for CVD and related risk factors have successfully identified hundreds of loci associated with these complex diseases and traits, although much of their heritability remains unexplained. Structural variants (SVs) - including insertions, deletions, duplications, and inversions - are an understudied class of genomic variation that have the potential to explain much of the missing heritability of CVD and other complex traits. Here, we discuss advances emerging from the study of SVs in the context of …
Refining Associations Between Targeted Genes And The Development Of Substance Use Disorders, Emily Olfson
Refining Associations Between Targeted Genes And The Development Of Substance Use Disorders, Emily Olfson
Arts & Sciences Electronic Theses and Dissertations
Recent genome-wide association studies (GWAS) provide strong evidence for the contribution of a few specific genes to alcohol and nicotine dependence. Chapter 2 explores numerous previously identified candidate genes for alcohol dependence using a publicly available GWAS. I found that many candidate loci do not replicate, highlighting the utility of GWAS for focusing on disease associated genes. Chapters 3-5 dissect associations between three genome-wide significant genes and substance use disorders. Chapter 3 focuses on a functional variant in alcohol dehydrogenase (ADH) 1B. Through examining 1,550 adolescent drinkers in the Collaborative Study on the Genetics of Alcoholism (COGA), I extended adult …