학술논문
Genome-wide association studies of polygenic risk score-derived phenotypes may lead to inflated false positive rates.
Document Type
Article
Source
Subject
*GENOME-wide association studies
*MONOGENIC & polygenic inheritance (Genetics)
*PHENOTYPES
*DISEASE risk factors
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Language
ISSN
2045-2322
Abstract
We also looked at the number of false positive associations per study (i.e. false positive rate times the number of null-SNPs considered), which was 402 on average when there was no overlap and was fully driven by SNPs used to construct the PRS-derived phenotype. While excluding any SNP (and those in linkage disequilibrium) from the GWAS that was used to construct the PRS-derived phenotype prevents inflation of false positive rates, it also leads to a loss of power for causal SNPs. Gouveia and colleagues (2022)[1] conducted a genome-wide association study (GWAS) of a polygenic risk score (PRS)-derived phenotype (N = 37,784), in which they identified 246 independent loci and 473 lead SNPs. [Extracted from the article]