The Korean Journal of Applied Statistics (응용통계연구)

The Korean Statistical Society (한국통계학회)
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Haplotype-Based Association and Linkage Analysis of Angiotensin-I Converting Enzyme(ACE) Gene with a Hypertension

일배체형에 기초한 고혈압과 ACE 유전자의 연관성 분석

  • Kim Jinheum (Department of Applied Statistics, University of Suwon) ;
  • Nam Chung Mo (Department of Preventive Medicine and Public Health, Yonsei University College of Medicine) ;
  • Kang Dae Ryong (Department of Preventive Medicine and Public Health, Yonsei University College of Medicine) ;
  • Suh Il (Department of Preventive Medicine and Public Health, Yonsei University College of Medicine)
  • 김진흠 (수원대학교 자연과학대학 통계정보학과) ;
  • 남정모 (연세대학교 의과대학 예방의학교실) ;
  • 강대룡 (연세대학교 의과대학 예방의학교실) ;
  • 서일 (연세대학교 의과대학 예방의학교실)
  • Published : 2005.07.01
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Abstract

In this study we investigate the association between the haplotype block of 4 SNPs in ACE genes and hypertension with a case-control dataset of size of 277 and 40 families data collected from Kangwha studies. To this end we perform a haplotype-based case-control association study and a haplotype-based TDT study. We do the same analysis with tag-SNPs that can identify the haplotype block. Through a cladogram analysis we make the evolution-tree of haplotypes and then classify the haplotypes into a few clades by collecting haplotypes exposed to the disease to the same extent. We also discuss the association between these clades and hypertension.

본 연구에서는 강화연구(서일, 2004)를 통해 수집된 277명의 환자-대조군 자료와 40개의 가계 자료를 이용하여 ACE(angiotensin-I converting enzyme) 유전자 내에 있는 4개의 단일염기다형성(single nucleotide polymorphism; SNP)으로 이루어진 일배체형(haplotype)과 고혈압의 관련성을 알아보고자 한다. 이를 위해 일배체형에 기초한 환자-대조군의 우도비 검정과 가계 자료의 TDT(transmission/disequilibrium test) 연구를 수행하고자 한다. 또한 이 일배체형을 동정(identification)할 수 있는 tag-SNPs에 기초하여 동일한 연구를 하고자 하며, Seltman 등(2003)이 제안한 분기도(cladogram) 분석 방법을 써서 일배체형의 진화 과정에서 가깝게 위치하고 질병 발생 위험이 비슷한 클레이드(clade)를 찾아내고 이 클레이드와 고혈압의 연관성을 살펴보고자 한다.

Keywords

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