Analysis of gene-smoking interaction for FEV1 with repeatedly observed measurement
반복 측정 자료를 이용한 FEV1 유전자-흡연의 상호작용 분석

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Park Boram
보건대학원 보건학과
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서울대학교 보건대학원
학위논문 (석사)-- 서울대학교 보건대학원 : 보건학과 보건학전공, 2016. 8. 원성호.
Analysis of gene-smoking interaction for FEV_1 with repeatedly observed measurement

Park Boram
Public Health Science, Department of Public Health
The Graduate School
Seoul National University


COPD (Chronic Obstructive Pulmonary Disease) is the one of the most prevalent diseases in the old age and is characterized by chronically poor airflow. Lung function declines with age, but the rate of it with smoking, in particular, accelerates the process. It suggests that heterogeneity among individuals may be explained by difference of their genotypes and therefore interactions between genotypes and smoking are expected.
In this thesis, forced expiratory volume in 1 second (FEV1) was used to identify genetic variants related with COPD and Korea Associated Resource (KARE) cohort was selected as study population. The KARE genotype data consists with 352,228 SNPs and 8,842 samples. FEV_1 was measured every two years and we performed genome-environment-wide interaction study (GEWIS) with linear mixed model. A stratified analysis was conducted in accordance with the smoking experience. Age, height, BMI, time intervals and amount of smoking were included as covariates and the null hypothesis β_SNP=β_interaction=0 were tested under the 1.64E-7 p-value.
As a result, we found 4 significant SNPs located in chromosome 17. All of these SNPs have association with SOX9 gene which is recognized as a master regulator of cartilage formation and human skeletal dysmorphology syndrome. There are a few studies about SOX9s role on lung function and smoking. Considering that the obvious genetic factor causing gene-environment interaction is not disclosed yet, our results would support the effects of SOX9 on FEV_1.
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Graduate School of Public Health (보건대학원)Dept. of Public Health (보건학과)Theses (Master's Degree_보건학과)
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