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Linkage Disequilibrium Information within Monozygotic Twin Pairs

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Authors

김진섭

Advisor
성주헌
Major
보건대학원 보건학과(보건학전공)
Issue Date
2014-02
Publisher
서울대학교 대학원
Description
학위논문 (석사)-- 서울대학교 보건대학원 : 보건학과(보건학전공), 2014. 2. 성주헌.
Abstract
In conventional GWA studies, only one of monozygotic twin(MZ) pairs are
considered because of same genetic information that we fomulate new method
for gene-mapping study using resemblance information of phenotypes between
MZ cotwins. Our new method used MZ concordance information as dependent
variable(binomial trait) that Cochran-Amitage trend test(no covariate) or logis-
tic regression(with covariate) was applied. Considering serum triglyceride(TG)
or Hypertriglycedemia(hyperTG) traits and rs651821, well-known TG related
SNP, power of our association test was calculated via creating simulated pheno-
types and we apply our approach to 399 real MZ pairs in Healthy Twin Study,
Korea and compare p-value with that of result of GWAS using 1,819 individuals
including family structures. In result, rs651821 has some trend with hyperTG
traits but is not signicant in various hyperTG cutos as 120, 150, 180, 210,
240(range of p-value: 0.003-0.176). But compared with conventional GWAS in
whole autosomal chromosome levels(537,158 SNPs), The authors nd positive
association in our new approach and GWAS's results using ROC curves and
AUC values. Our methods using new information that concordance of MZ or
probability of at least 1 MZ cotwin are aected can contribute gene mapping
study.
Language
English
URI
https://hdl.handle.net/10371/128478
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