Adjusting sampling bias in case-control association studies

case-control design;genome-wide association studies;quantitative traits;sampling bias;SNPs;단일염기다형성. 양적 형질. 유전체 전장 연관성 연구. 표본추출편의. 환자-대조군 연구;단일염기다형성. 양적 형질. 유전체 전장 연관성 연구. 표본추출편의. 환자-대조군 연구;519

자연과학대학 통계학과 ;

University:서울대학교 대학원

关键词: case-control design;    genome-wide association studies;    quantitative traits;    sampling bias;    SNPs;    단일염기다형성. 양적 형질. 유전체 전장 연관성 연구. 표본추출편의. 환자-대조군 연구;    단일염기다형성. 양적 형질. 유전체 전장 연관성 연구. 표본추출편의. 환자-대조군 연구;    519;   

Others  :  http://s-space.snu.ac.kr/bitstream/10371/131285/1/000000021053.pdf

美国|英语

来源: Seoul National University Open Repository

【 摘 要 】

Genome-wide association studies (GWAS) are designed to discover genetic variants such as single nucleotide polymorphisms (SNPs) that are associated with human complex traits. Although there is an increasing interest in the application of GWAS methodologies to population-based cohorts, many published GWAS have adopted a case-control design, which raise an issue related to a sampling bias of both case and control samples. Because of unequal selection probabilities between cases and controls, the samples are not representative of the population that they are purported to represent. Therefore, non-random sampling in case-control study can potentially lead to inconsistent and biased estimates of SNP-trait associations. In this paper, we proposed inverse-probability of sampling weights based on disease prevalence to eliminate a case-control sampling bias in estimation and testing for association between SNPs and quantitative traits. We apply the proposed method to a data from the Korea Association Resource project and show that the standard estimators applied to the weighted data yield unbiased estimates.