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A robust example of collider bias in a genetic association study

By Felix R. Day, Robert A Scott, Ken K. Ong, John R.B. Perry

Posted 01 Oct 2015
bioRxiv DOI: 10.1101/028035 (published DOI: 10.1016/j.ajhg.2015.12.019)

Recent studies have described the potential for ″collider bias″ to modify the magnitude of genotype-phenotype associations, however the extent to which this effect can induce a completely false-positive association remains unclear. In a sample of 142,630 individuals from the UK Biobank study, inclusion of height (a ″collider″) as a covariate induces biologically spurious, but genome-wide significant, associations between autosomal genetic variants and sex. These associations are non-significant in models unadjusted for height. Our study underpins the importance of causal inference modeling in the design and interpretation of genetic (and non-genetic) association studies.

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