Figure 3. Genetic correlations between female infertility and other phenotypes.

SNP-based genetic correlations (rg) between significantly heritable phenotypes (Z>4) were estimated using LD-score regression, performed using the LDSC software⁵¹ on a subset of 1 million HapMap3 SNPs⁵². Points are coloured by rg estimate, scaled by significance (−log10(P)), and labelled with the associated rg estimate if nominally significant without correction for multiple testing (P<0.05). (A) Genetic correlations among the three significantly heritable definitions of female infertility (all cause=F-ALL, anovulatory=F-ANOV, and idiopathic infertility defined by inclusion=F-INCL). (B) Genetic correlations between female infertility traits and reproductive hormones: testosterone, follicle stimulating hormone (FSH), and anti-Mullerian hormone (AMH, publicly available summary statistics) in female-specific analyses, and thyroid stimulating hormone (TSH, publicly available summary statistics) from sex-combined analysis. (C) Genetic correlations between female infertility traits and female reproductive conditions, with summary statistics generated from the largest available European-ancestry studies for each trait (see Methods). PCOS=polycystic ovary syndrome. (D) Genetic correlations between female infertility traits and selected heritable phenotypes (Z>4) in the UK Biobank, as generated by the Neale lab⁵³. Correlations with all heritable phenotypes can be found in Supp. Table 12.