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Efficient statistical method for association analysis of x-linked variants

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Authors
진희진
Advisor
원성호
Major
보건대학원 보건학과
Issue Date
2016-08
Publisher
서울대학교 보건대학원
Keywords
X-chromosome inactivationX-linked variantsX-chromosome association analysis
Description
학위논문 (석사)-- 서울대학교 보건대학원 : 보건학과 보건학전공, 2016. 8. 원성호.
Abstract
Unlike the gene-poor Y-chromosome, the X-chromosome contains over 1,000 genes that are essential for proper development and cell viability. Thus, amount of females X-linked gene expression would be expected to be twice as males. To adjust this unbalancedness, one of two X-linked genes in female is often inactivated and this is known as X-chromosome inactivation (XCI). However, recent studies found that a gene for inactivation can be nonrandomly selected from two X-linked genes and XCI was not observed in some X-linked genes. This biologically complicated process has prevented the efficient statistical association analyses, and it may partially explain the relatively small finding of significantly associated X-linked variants.
Here, I propose a new statistical method robust against the uncertain biological process. The proposed method consists of two steps. First, p-values for various biological processes are calculated and combined into a single p-value with modified Fishers method and minimum P-value. Our simulation results show that the scenario for specific XCI process with true underlying coding is the most powerful but the proposed methods are the second best.
Language
English
URI
https://hdl.handle.net/10371/128410
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Graduate School of Public Health (보건대학원)Dept. of Public Health (보건학과)Theses (Master's Degree_보건학과)
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