Availability of public databases for triangulation of findings
Author(s) -
Matthew Lyon,
Marcus R. Munafò,
Tom R. Gaunt,
George Davey Smith
Publication year - 2019
Publication title -
proceedings of the national academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.1908893116
Subject(s) - expression quantitative trait loci , snp , single nucleotide polymorphism , locus (genetics) , genetics , allele , replicate , robustness (evolution) , biology , trait , allelic heterogeneity , gene , computational biology , computer science , genotype , statistics , mathematics , programming language
Struk et al. (1) report evidence that the rs13499 single-nucleotide polymorphism (SNP) in the PRKG1 gene is associated with foraging and goal pursuit behavior. The authors used an expression quantitative trait locus (eQTL) for PRKG1 obtained from the CommonMind Consortium ( n = 467) to test for association between gene expression and phenotype (2). However, the original SNP–gene expression association had an opposite direction of effect (increasing allele A in open-access CommonMind analysis vs. increasing allele C reported by Struk et al.; Table 1). Furthermore, the eQTL was not robustly associated after taking account of multiple testing (false detection rate [FDR] between 0.05 and 0.1) and did not replicate in BrainSeq (ref. 3; n = 412), casting doubt on both the robustness and the interpretation of … [↵][1]1To whom correspondence may be addressed. Email: matt.lyon{at}bristol.ac.uk. [1]: #xref-corresp-1-1
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