Studying the joint effects of population stratification and sampling in case-control association studies

K. F. Cheng, J. Y. Lee, J. H. Chen

研究成果: 雜誌貢獻文章同行評審

2 引文 斯高帕斯(Scopus)

摘要

Population stratification (PS) is referred to the systematic difference in allele frequencies between subpopulations in a population. It could cause a false-positive conclusion in a case-control association study, where the association is due to the structure of the underlying population, not a disease-associated locus. In this paper, we study the joint effects of PS and data sampling when the genetic effect is null. The level of the PS effect depends on the variation of the baseline genotype frequency across subpopulations and matching effectiveness of the sampling. In the case of simple random sampling (SRS), the matching effectiveness equals the inverse of the variation of the disease odds, and thus the PS bias is null under constant disease risk. However, if the latter condition holds but the sampling is not SRS, the bias may still exist. The magnitude of the bias increases as the deviation between the true sampling and SRS increases. We also derive bounds for the bias. If the bounds are approximately known or estimable, we show that this information can be used to compute a conservative p value for the usual association test. We give two real examples to demonstrate the application of the new method.

原文英語
頁(從 - 到)254-261
頁數8
期刊Human Heredity
69
發行號4
DOIs
出版狀態已發佈 - 四月 2010
對外發佈Yes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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