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한국인 집단에서의 혈중 중성지방 농도에 대한 분자 및 유전적 분석 및 성인 신장 전장유전체 분석
- Author(s)
- 김한결
- Advisor
- 최상돈
- Department
- 일반대학원 분자과학기술학과
- Publisher
- The Graduate School, Ajou University
- Publication Year
- 2019-08
- Language
- eng
- Alternative Abstract
- Every human being has a personal difference, and Genome-wide association studies (GWAS) is significantly advanced the way to describe the complex human trait. Thus, the Korean genome and epidemiology study with large scale genome data was prepared for showing Korean specific genetic variants. This research aims to discover which polymorphism affects the quantitative trait such as plasma triglyceride and adult height. Under KARE and HEXA studies, it has been studied a suite of biomarkers that have been reported for association with plasma triglyceride and adult height. Particularly, it has been sought to estimate the following three broad aspects: 1. what are the risk alleles for hypertriglyceridemia in Korean? 2. What are the relations with gene function or transcription? 3. Can an association analysis using two studies and mixed linear model reveal a novel allele associated with adult height? Consequently, I was investigated through imputation, association, and molecular modeling. Overall, my results suggested major effects on plasma TG levels may be exerted by the rs651821 and rs2075291, rs2075291 increases plasma TG level by causing structural changes in APOA5 and Nine significant SNPs were discovered to be associated with the adult height, and seven were identified for the first time. Finally, this study reveals a novel perspective of risk of Korean specific plasma TG level and suggests a determination of growth.
- Fulltext
- Appears in Collections:
- Graduate School of Ajou University > Department of Molecular Science and Technology > 4. Theses(Ph.D)
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