한국인에서의 음주 후 안면 홍조 표현형 추정을 위한 유전자 마커 발굴에 관한 연구

학위논문 (석사)-- 서울대학교 대학원 : 의학과, 2017. 2. 이숭덕.음주 후 나타나는 안면 홍조 증상(Alcohol-induced flushing syndrome이하 AFS)은 아시안인들에게 흔히 나타나는 알코올 과민 반응 중 하나로써, alcohol dehydrogenase (ADH) 혹은 aldehyde dehydrogenase (ALDH)에 있는 단일염기서열다형성 (single nucleotide polymorphismSNP)에 의한 알코올 대사 억제나 불능에 의해 야기된다. 이러한 유전적 특징은 DNA 검사를 통해 외형이나 습성을 예측함으로써 대상을 추정하는 데에 활용될 수 있다. 본 연구에서는 이러한 유전적 변이를 이용하여 표현형으로 나타나는 특징을 추정할 수 있는 마커를 발굴하고자 하였다. 여러 문헌을 통해 후보 마커 24개를 선별하였고, 집적유체회로(IFC) 방법으로 570명의 한국인에 대한 유전자형 검사를 수행하였다. 대상군은 설문 조사를 통해 판단된 AFS 양성군과 음성군, 무작위로 추출된 대조군으로 구분되었다. 실험 결과 염색체 12번에 위치한 네 개의 마커 rs671 (ALDH2), rs2074356 (HECTD4), rs4646776 (ALDH2), 및 rs10849915 (CCDC63)가 표현형질의 발현과의 연관성이 통계적으로 유의한 것으로 나타났고 (p-value range 1.39E-14 ~ 0.004988), 성별에 따른 결과의 차이는 확인되지 않았다. 이 마커들은 음주 후 안면 홍조가 나타나는 사람과 나타나지 않는 사람들 구분하는 데에 높은 특이도를 보였고 (range 0.80465~ 0.972093), 이는 대상을 예측하는 데에 유망할 것으로 기대되었다. 이 마커들을 이용하여 추가적인 연구를 통해 한국인을 대상으로 한 습성 추정 모델을 구축할 수 있을 것이고, 이는 범죄 수사 뿐만이 아니라 개인 식별에 추가적인 정보를 제공하는 데에 기여할 수 있을 것으로 기대한다.Alcohol-induced flushing syndrome (AFS) is one of the alcohol hypersensitivity reactions commonly found among Asian population after alcohol intake due to inhibited or inability of alcohol metabolism caused by single nucleotide polymorphism (SNP) in alcohol dehydrogenase (ADH) or aldehyde dehydrogenase (ALDH) gene. Using such distinctive trait, this study was designed to find markers that can predict this particular propensity among Korean population and to assess the applicability of this finding to build a prediction model as forensic DNA phenotyping (FDP) tool to operate in practical forensic cases. 570 unrelated Koreans were genotyped using microfluidic technology (Fluidigm 192.24 Dynamic Array™ systems) with 24 possible candidate SNP markers. The subjects were randomly chosen and divided into AFS positive (n=255), AFS negative (n=215), and control (n=100) groups based on their survey answers regarding responses after alcohol intake. Of the 24 candidate SNPs, four markers, rs671 (ALDH2), rs2074356 (HECTD4), rs4646776 (ALDH2), and rs10849915 (CCDC63), on chromosome 12 showed statistically significant association with p-values ranging from 1.39E-14 to 0.004988 among our subjects. The association studies have shown that gender difference does not intervene with our findings, showing no additional significiant association. All four markers show relatively high specificity values, ranging from 0.804651 to 0.972093, presenting their capabilities as differential SNPs that can distinguish a person with or without AFS. Maneuvering these candidate SNPs as well as finding additional potential markers through future studies will help building an appropriate prediction model for Koreans that can be used as supplementary tool for individual identification. This finding is expected to be a meaningful foundation for designing Korean targeted propensity prediction model as part of FDP, which can be utilized in various practical forensic cases, such as criminal investigation as well as finding missing persons.Chapter 1. Introduction 1 Chapter 2. Materials and Methods 9 Chapter 3. Results 13 Chapter 4. Discussion 34 Bibliography 51 Abstract in Korean 62Maste

스포츠 수용자의 소비행동 분석

학위논문(박사)--서울대학교 대학원 :체육교육과,2001.Docto

대용량 IoT 네트워크를 위한 희소 확산 다중접속기법 연구

학위논문 (석사)-- 서울대학교 대학원 : 전기·정보공학부, 2017. 2. 심병효.This paper addresses a problem of massive connectivity with millions of Internet of Things (IoT) devices. Massive connectivity is one of the most important requirements for the next generation of networks. In this paper, we propose sparse spreading multiple access which overloads a large number of users on limited sizes of resources as a solution for massive connectivity. o do this, first, a single low density signature (LDS) codebook is used for accessing the medium to transmit data and a pilot signal. The number and length of the signature is designed to maximize the access rate. Second, a compressed sensing method is utilized for estimating user activity and channel impulse response vector from overloaded pilot signals. To maximize successive detection rates, we organize a particular spreading signature by concatenating multiple codewords from the LDS codebook and utilize the active user information and estimated channel information jointly. Third, an adaptive message passing algorithm (MPA) is applied to minimize inter-code interference between users who use the same sparse code casually.1 Introduction 1 2 Sparse Spreading Multiple Access 5 2.1 Uplink Multiple Access System 5 2.2 Sparse Spreading Multiple Access 6 2.3 Pilot and Data Transmission Process 6 3 Detecting Active users, Channel and Data 12 3.1 Overall Structure of active user detection and channel estimation 12 3.2 Joint Active User Detection and Frequency Response Estimation 14 3.3 Channel Impulse Response Estimation 18 3.4 Data Detection with MPA 22 4 Simulation Results and Discussion 26 4.1 Simulation Setup 26 4.2 Simulation Results 29 5 Summary and Conclusions 38 Abstract (In Korean) 42Maste