UGT2B4 previously implicated in the risk of breast cancer is associated with menarche timing in Ukrainian females

• From nearly 100 polymorphisms associated with menses onset in different populations 53 were replicated in the Ukrainians.
• Gene UGT2B4, which was previously associated with breast cancer, had an important contribution regarding age at menarche.
• Loci LIN28B and TMEM38B that were replicated in other populations did not show association with menarche onset in Ukrainians.

Age at menarche (AAM) is a multifactorial trait that is regulated by dozens environmental and genetic factors. Recent meta-analysis of GWAS showed significant association of 106 loci with AAM. These polymorphisms need replicating in different ethnic populations in order to confirm their association with menarche timing. This study was aimed to replicate 53 polymorphisms that were previously associated with AAM. DNA samples were collected from 416 Ukrainian young females for further genotyping. After data quality control 47 polymorphisms remained for the association analysis using the linear regression model. SNP rs13111134 located in UGT2B4 showed the most significant association with AAM (0.431 years per allele A, padj = 0.044 after the Bonferroni correction). Polymorphisms rs7589318 in POMC, rs11724758 in FABP2, rs7753051 in IGF2R, rs2288696 in FGFR1 and rs12444979 in GPRC5B may also contribute to menarche timing. However, none of these associations remained significant after the Bonferroni correction for multiple testing. The obtained results provide evidence that UGT2B4, which was previously associated with predisposition to breast cancer, may play a role in the onset of menarche.