Association of polymorphism (RS466639) in gene RXRG with age at menarсhe in women of Central Black Earth region (Russia)

The objective of the trial is to study the association of single nucleotide polymorphism (SNP) rs466639 in gene RXRG (retinoid X receptor gamma) with the age at menarche in Russian women living in the Central Black Earth Region of the Russian Federation and the regulatory potential of this polymorphism. Materials and Methods. The sample for the research study included 1613 women. The authors conducted genotyping of SNP (rs466639) in gene RXRG. Results. The association of T SNP (rs466639) allele in gene RXRG with early menarche in Russian women living in the Central Black Earth Region of the Russian Federation was established under the recessive model (р=5,58·10-9). The authors showed the important regulatory value of this polymorphism and five strongly linked SNPs (r2≥0.8) located in the histone area that mark enhancers in the brain, adipose tissue, muscle tissue and affect the affinity of regulatory DNA motifs to more than 25 transcription factors. Conclusion. The polymorphism (rs466639) in gene RXRG is associated with age at menarche in Russian women living in the Central Black Earth Region of the Russian Federation; it also has a significant regulatory potential.