Sarnowski C, Cousminer DL, Franceschini N, et al. - Age at menarche (AAM) is identified to be a highly polygenic puberty trait that is linked with various diseases later in life. Researchers herein examined how the expansion of genome-wide association studies (GWAS) to a broader range of ancestries affect the ability to detect and generalise variants linked with age at menarche (AAM) in European populations to a wider range of world populations. A total of 38,546 women who did not have predominantly European ancestry backgrounds were analyzed in this work, which comprised 25,149 women from seven studies from the ReproGen Consortium and 13,397 women from the UK Biobank. In addition, an independent sample of 5,148 African-ancestry women from the Southern Community Cohort Study (SCCS) was assessed for replication. Four AAM loci (1p31, 6q16, 6q22 and 9q31) with common genetic variants were validated. One new association (10p15) with a low-frequency genetic variant lying in AKR1C4 was identified, replication of which was done in an independent sample. This gene was identified to belong to a family of enzymes that regulate the metabolism of steroid hormones and have been implicated in the pathophysiology of uterine diseases. In the new locus, the genetic variant is more frequent in African-ancestry participants, and has a very low frequency in Asian or European-ancestry individuals.