Communications for Statistical Applications and Methods

The Korean Statistical Society (한국통계학회)
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Comparison of Genetic Association Analyses Using Sib Information in Family-Based Study

가족기반연구에서 형매정보를 이용한 유전적 연관성 분석방법의비교

  • Jung, Ji-Won (Department of Statistics, Chungnam National University) ;
  • Lee, Suk-Hoon (Department of Statistics, Chungnam National University) ;
  • Kim, Soon-Ae (Department of Pharmacology Medicine, Eulji University) ;
  • Park, Mi-Ra (Department of Preventive Medicine, Eulji University)
  • Received : 20100600
  • Accepted : 20100700
  • Published : 2010.09.30
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Abstract

Recently, disease-genetic association analyses using single nucleotide polymorphisms(SNPs) and haplotypes in family-based genetic study have come into the spotlight. In binary trait, the classic transmission disequilibrium test(TDT) can only be applied if genetic information of parents and their offspring is available. However, in case of diseases having a late age of onset such as dementia, the TDT cannot be applied due to the fact that parental genotype data are unavailable. For this reason, alternate methods using genetic sib information instead of parental genotype data are proposed. In this study, methods using genetic sib information are reviewed and power of analysis tests is also compared throughout simulation experiment.

가족기반 유전연구에서 단일염기다형성(SNP) 및 일배체형(haplotype)을 이용한 질병-유전자간 연관성 분석은 주요 관심부분 중 하나이다. 이진형질인 경우 사용되는 고전적인 TDT(transmission/disequilibrium test)는 부/모/자의 유전정보를 모두 알 수 있을 때에 쓸 수 있다. 그러나 경우에 따라서는 부모의 유전자형에 대한 정보를 사용할 수 없을 수가 있는데, 치매등과 같이 늦게 발병하는 질환에서 이런 경우가 자주 발생한다. 부모의 유전자형을 모를 때 이를 대체할 수 있는 방법으로 형매(sib)의 유전정보를 이용하는 방법이 있다. 본고에서는 가족기반연구에서 형매의 유전정보를 이용하는 분석방법에 대해 고찰하고 모의실험을 통해 이들의 검정력을 비교하였다.

Keywords

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