Figure 2: Locuszoom plot of association results, linkage disequilibrium and recombination rates around the genome-wide significant loci. | Nature Communications

Figure 2: Locuszoom plot of association results, linkage disequilibrium and recombination rates around the genome-wide significant loci.

From: Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations

Figure 2

(a) Chr. 9 PCOS locus (c9orf3/FANCC), (b) Chr. 11 PCOS locus (FSHB/ARL14EP), (c) Chr. 8 PCOS locus (GATA4/NEIL2), (d) Chr. 11 LH locus (FSHB/ARL14EP). In each, the top panel reflects the meta-analysis results of the combined GWAS and replication phases. The LD estimates are colour coded as a heatmap from dark blue (0≥r2>0.2) to red (0.8≥r2>1.0). Recombination hotspots are indicated by the yellow lines (recombination rate in cM Mb-1 from HapMap (http://hapmap.ncbi.nlm.nih.gov/downloads/recombination/2008-03_rel22_B36/rates/)). The bottom panel shows the genes and their orientation for each region. For (a–c) PCOS loci, P values are from sample-size weighted two-strata meta-analysis of strata-specific logistic regression P values (Stage 1: 984 cases and 2,964 population control women; Stage 2: 1,799 PCOS cases and 1,231 phenotyped reproductively normal control women). For (d) LH level locus, P values are from sample-size weighted two-strata meta-analysis of strata-specific linear regression P values (Stage 1: 645 PCOS cases; Stage 2: 399 PCOS cases).

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