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과제정보

과제정보
과제명 한국인에피유전체사업2018: 한국인 코호트기반 에피유전체 정보생산
기관명 보건복지부
담당부서 질병관리본부 국립보건연구원 유전체센터 유전체연구과
전화번호 043-719-8896
연구기간 2018-03-20 ~ 2018-12-15
연구분야 생명과학연구지원
개요 - 만성질환(당뇨 및 비만 등) 발생에 관여하는 바이오마커를 발굴하고자 인구집단(cohort)의 혈액시료에서 대규모 에피유전체 데이터(DNA 메틸화정보) 생산

- 기존 연구를 통해 생산된 만성질환(당뇨 및 비만 등) 관련 전장유전체 대사체 등 정보와의 연계분석을 위해 에피유전체 생산

-정보생산을 위한 IRB 신청 및 유전체 시료 분양 요청 (국립중앙인체자원은행 한국인 코호트 시료, 요청 대상 시료는 발주부서와 협의)

- 총 992건 시료 수령 후, Bisulfite 처리(처리 전?후 DNA 정성/정량 분석)

- Infinium HumanMethylation HD array(EPIC chip) 실험 수행

- 데이터 QC 및 normalization(1차분석) 수행

- 원시데이터, beta value 등의 생산 데이터와 시료 및 상기 데이터의 QC 결과를 포함한 최종 결과 보고서 제출

계약정보

과제정보
수행기관 (주)엘에이에스 [기타]
수행연구원 이정수
계약일자 2018-03-20
계약방식 일반경쟁입찰에 의한 계약
계약금액 447,917,326원

연구결과 정보

과제정보
제목 한국인에피유전체사업2018: 한국인 코호트기반 에피유전체 정보생산
연구보고서
목차
Ⅰ. 연구결과 요약문 ·····································································································1 (한글) 한국인에피유전체사업2018- 한국인 코호트기반 에피유전체 정보생산 (영문) Epigenome data production of the chronic disease Ⅱ. 정책연구용역사업 연구결과 제1장 최종 목표 ·········································································································3 1.1 목표 ······················································································································3 가. 연구개발의 최종 목표 ····················································································3 나. 연구개발의 필요성 ··························································································3 다. 연구개발 내용 및 범위 ··················································································4 1.2 목표달성도 및 관련분야에 대한 기여도 ······················································9 가. 목표 달성도 ····································································································9 나. 성과의 활용방안 및 기대효과 ······································································9 제2장 국내외 기술 현황 ···························································································11 2.1 연구개발 대상의 국내외 현황 ········································································11 가. 국내 현황 ········································································································11 나. 국외 현황 ········································································································11 2.2. 연구결과가 국내외 기술 현황에서 차지하는 위치 ···································13 제3장 최종 연구 내용 및 방법 ···············································································14 3.1 DNA 검체 확보 및 정도관리 ··········································································14 가. 개요 ··················································································································14 3.2 Methylation EPIC Bead Chip 850K chip을 활용한 당뇨질환 등 만성복합 질환에 관련된 데이터 생산 ·········································································15 가. 개요 ··················································································································15 나. 방법 ··················································································································15 3.3 생물 정보 분석 ································································································26 가. 개요 ··················································································································26 제4장 최종 연구 결과 ·······························································································27 4.1 DNA 검체 확보 및 정도관리 ··········································································27 가. DropSense 실험을 통한 검체 샘플 DNA 정량 확인 ·····························27 나. 정성 분석 ······································································································64 4.2 MethylationEPIC BeadChip 850K 데이터 생산 ········································71 가. Bisulfite 후 DropSense96를 이용한 농도 확인 ·······································71 나. 실험에 사용된 각 Chip 에 따른 sample 위치 ········································96 4.3 생물정보 분석 결과 ························································································108 가. 개요 ················································································································108 나. 위치 정보 이력을 통한 데이터의 위치 파악 ····································110 다. 평균 Detect p-value을 통한 EPIC array 실험 유효성 확인 ·········116 라. RnBeads / Minfi의 quality control을 통한 생산된 assay 데이터의 유효 성 확인 ··········································································································117 마. RnBeads gender prediction ······································································126 바. SNP Probe Data ···························································································127 사. Data Normalization ····················································································128 아. Probes filtering 과정을 통한 β-values 및 M-values 도출 ···············133 제5장 연구결과 고찰 및 결론 ···············································································137 제6장 연구성과 및 활용계획 ·················································································137 제7장 연구용역과제 진행과정에서 수집한 해외과학기술정보 ·······················139 제8장 기타 중요변경사항 ·······················································································139 제9장 연구비 사용 내역(당해년도) 및 연구원 분담표 ·····································140 9.1 연구비 사용 내역(작성일까지 사용내역 작성) ··········································140 9.2 연구분담표 ······································································································141 제10장 참고문헌 ·······································································································142 제11장 첨부서류 ·····································································································143
 

Ⅰ. 연구결과 요약문 ·····································································································1
(한글) 한국인에피유전체사업2018- 한국인 코호트기반 에피유전체 정보생산
(영문) Epigenome data production of the chronic disease
Ⅱ. 정책연구용역사업 연구결과
제1장 최종 목표 ·········································································································3
1.1 목표 ······················································································································3
가. 연구개발의 최종 목표 ····················································································3
나. 연구개발의 필요성 ··························································································3
다. 연구개발 내용 및 범위 ··················································································4
1.2 목표달성도 및 관련분야에 대한 기여도 ······················································9
가. 목표 달성도 ····································································································9
나. 성과의 활용방안 및 기대효과 ······································································9
제2장 국내외 기술 현황 ···························································································11
2.1 연구개발 대상의 국내외 현황 ········································································11
가. 국내 현황 ········································································································11
나. 국외 현황 ········································································································11
2.2. 연구결과가 국내외 기술 현황에서 차지하는 위치 ···································13
제3장 최종 연구 내용 및 방법 ···············································································14
3.1 DNA 검체 확보 및 정도관리 ··········································································14
가. 개요 ··················································································································14
3.2 Methylation EPIC Bead Chip 850K chip을 활용한 당뇨질환 등 만성복합
질환에 관련된 데이터 생산 ·········································································15
가. 개요 ··················································································································15
나. 방법 ··················································································································15
3.3 생물 정보 분석 ································································································26
가. 개요 ··················································································································26
제4장 최종 연구 결과 ·······························································································27
4.1 DNA 검체 확보 및 정도관리 ··········································································27
가. DropSense 실험을 통한 검체 샘플 DNA 정량 확인 ·····························27
나. 정성 분석 ······································································································64
4.2 MethylationEPIC BeadChip 850K 데이터 생산 ········································71
가. Bisulfite 후 DropSense96를 이용한 농도 확인 ·······································71
나. 실험에 사용된 각 Chip 에 따른 sample 위치 ········································96
4.3 생물정보 분석 결과 ························································································108
가. 개요 ················································································································108
나. 위치 정보 이력을 통한 데이터의 위치 파악 ····································110
다. 평균 Detect p-value을 통한 EPIC array 실험 유효성 확인 ·········116
라. RnBeads / Minfi의 quality control을 통한 생산된 assay 데이터의 유효
성 확인 ··········································································································117
마. RnBeads gender prediction ······································································126
바. SNP Probe Data ···························································································127
사. Data Normalization ····················································································128
아. Probes filtering 과정을 통한 β-values 및 M-values 도출 ···············133
제5장 연구결과 고찰 및 결론 ···············································································137
제6장 연구성과 및 활용계획 ·················································································137
제7장 연구용역과제 진행과정에서 수집한 해외과학기술정보 ·······················139
제8장 기타 중요변경사항 ·······················································································139
제9장 연구비 사용 내역(당해년도) 및 연구원 분담표 ·····································140
9.1 연구비 사용 내역(작성일까지 사용내역 작성) ··········································140
9.2 연구분담표 ······································································································141
제10장 참고문헌 ·······································································································142
제11장 첨부서류 ·····································································································143
초록
대용량 에피유전체 데이터분석 및 전장에피유전체 연관성연구를 위한 만성질환
(당뇨 및 비만)관련 조직 및 혈액 유래의 에피유전체정보를 생산.
가) 발주부서로부터 제공받은 만성질환 관련 DNA 시료(혈액 및 조직유래) 및 국
립중앙인체자원은행으로부터 분양(발주부서 선정)받은 DNA 처리
? Bisulfite 처리, 총 992건 (샘플 위치 이력 확인을 위한 blind test 10건 포함)
? 처리 전·후 DNA 정성 및 정량 분석; 초기 gDNA 정량 및 bisulfite 처리 후
DropSense 및 Fragment Analyzer 실시
나) Bisulfite-converted DNA를 대상으로 Infinium HumanMethylation EPIC array
실험 수행 및 데이터 생산
? 데이터 품질이 보장된 실험결과 제공
? Probe의 QC 값(p-value)이 0.05 이상인 경우 결과에서 제외
? 데이터의 QC, 교란변수 보정, normalization 등 수행
? 발주부서와 협의하여 분석 대상 및 분석 툴 가이드라인에 따라 분석 실시
본 과제의 기대 효과 및 활용계획으로는
첫째, 본 연구를 통해 생산된 만성질환 연구용 당뇨 관련 시료의 에피유전체 정
보를 공개하여 국내 에피유전체 연구 등 관련 분야 활성화 기여
둘째, 혈액시료 기반 에피유전변이 정보로부터 질환 관련 인자 발굴 및 향후 연
구를 통한 질환 치료법 개발을 위한 에피유전체 연구 기반 구축이라 할 수
있다.
주제어 에피유전체학, 메틸화, 유전체정보, 만성질환, 당뇨
발행년도 2018년

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