False positive rates in association studies as a function of degree of stratification

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
Daniel L KollerMichael J Econs

Abstract

To explore the degree to which stratification can cause spurious positive association results, we tested for association between BMD and 373 genetic markers using 381 white and 126 black females. The rate of positive results doubled as the proportion of stratification increased, showing the importance of controlling for stratification in association studies. Population-based association studies are commonly used to test the relationship between polymorphisms in a candidate gene and a disease or trait of interest. Although the collection of samples for this type of study design is relatively cost-effective, the statistical analysis may be susceptible to false positive results because of the effects of population stratification. Such results may occur when the underlying populations differ in both the polymorphism allele frequency and mean trait value. To explore the degree to which stratification can cause spurious positive association results, we analyzed femoral neck BMD data from an unrelated sample of 381 white and 126 black premenopausal females. As part of a previous genome screen, 373 microsatellite markers had been genotyped for each individual. For simplicity of interpretation, each multiallelic marker was reduced to a ...Continue Reading

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Citations

Aug 25, 2005·The Journal of Clinical Endocrinology and Metabolism·Shoji IchikawaMichael J Econs
Jan 25, 2006·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·S IchikawaM J Econs
Apr 7, 2006·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Shoji IchikawaMichael J Econs
Apr 18, 2006·American Journal of Obstetrics and Gynecology·Kenneth Ward
Jan 13, 2018·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Adam KamińskiBogusław Czerny
Feb 18, 2010·Annals of Biomedical Engineering·Rebecca R VanderpoolNaomi C Chesler
Aug 25, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Logan DumitrescuDana C Crawford

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