The Polymorphism rs7579411 of the LHCGR Gene Is Associated with the Development of Endometrial Hyperplasia.

The associations of single nucleotide polymorphisms of the LHCGR gene with the formation of endometrial hyperplasia in the Russian population were studied. Genotyping of four loci of the LHCGR gene (rs4953616, rs4374421, rs6729809, rs7579411) was performed in 520 patients with endometrial hyperplasia (EH) and 981 women of the control group. A significant contribution to the susceptibility to endometrial hyperplasia of the rs7579411 polymorphism of the LHCGR gene has been established. The genotype C/C rs7579411 of the LHCGR gene is risky for EH (OR = 1.26, p = 0.05), whereas the allelic variant T rs7579411 of the LHCGR gene is a protective factor for EH (OR = 0.79, pperm = 0.05). The rs7579411 locus of the LHCGR gene has significant epigenetic effects (located in DNA regions marking regulatory sequences (enhancers)) and is associated with the expression of the STON1-GTF2A1L gene in organs and tissues (thyroid gland, peripheral blood) involved in the pathophysiology of the disease. At the same time, the allele T rs7579411 of the LHCGR gene is associated with low transcriptional activity of the STON1-GTF2A1L gene (β = –0.25). [ABSTRACT FROM AUTHOR]