Fig. 3: Prioritizing PCOS-associated variants within functional regulatory elements. | Nature Communications

Fig. 3: Prioritizing PCOS-associated variants within functional regulatory elements.

From: Gene regulatory activity associated with polycystic ovary syndrome revealed DENND1A-dependent testosterone production

Fig. 3

a Association analysis to identify PCOS-associated variants in regulatory elements. We use the candidate regulatory elements from STARR-seq experiments to define the genomic regions of interest. We then performed an association analysis to identify variants associated with PCOS using a cohort of 983 PCOS cases and 2951 controls (results in Table 2) adjusted using Bonferroni correction. We then colocalized the association analysis results with GTEx eQTL SNPs to identify SNPs and genes as those likely involved in PCOS pathogenesis (results in Table 3). b, c Regional locuszoom plots for single nucleotide polymorphisms (SNPs) in the FSHB/ARL14EP (b) and GATA4/NEIL2 locus (c), showing P-values obtained by logistic regression within candidate regulatory elements and PCOS case-control samples (fixed-effects). SNPs are colored by r2 linkage disequilibrium (LD) and lead SNP is colored purple.

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