Our large-scale genetic investigation of infertility and related reproductive phenotypes in over 1 million individuals identified 19 genetic loci associated with female infertility, two with male infertility, and novel variants for the reproductive hormones FSH (3 novel variants), LH (1), oestradiol (1), and total testosterone (28) in women and for total testosterone in men (39). The gene discussed is PLOD1; the disease is male infertility.