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Age of menarche in Russian women is associated with the ESR2 candidate gene

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Aim: to study the relationship of single-nucleotide polymorphism of the second type of estrogen receptor (ESR2) gene with the age of menarche in women of the Central Black Earth region of Russia.

Materials and Мethods. The sample for this retrospective study was 696 women. Information about the age of menarche was obtained by interviewing women. Three polymorphic loci rs4986938, rs1256031, and rs10144225 of the ESR2 gene were genotyped using the TaqMan probe polymerase chain reaction. The functional epigenetic effects of the rs4986938 ESR2 menarcheassociated polymorphism were studied using the online Haploreg software.

Results. Associations of rs4986938 polymorphism of the ESR2 gene with menarche age in Russian women of the Central Black Earth region of the Russian Federation were established. In women with the rs4986938 ESR2 polymorphism allele A in the genotype (genotypes A/A and G/A), menarche occurred at the age of 12.71 ± 1.03 years, which is 0.20 years later than in women without this allele in the genotype (genotype G/G), in whom menarche occurred at 12.51 ± 1.05 years (pperm = 0,01). The rs4986938 ESR2 polymorphism is characterized by pronounced epigenetic effects (it affects affinity for five transcription factors – CTCF, Nr2f2, Pax-6, Pax-8, and RAR, is associated with enhancer and promoter sites in various menarche-significant tissues and organs of the body, and is associated with the expression of the ESR2 gene).

Conclusion. The rs4986938 polymorphic locus of the ESR2 gene is associated with menarche age in women in the European part of Russia.

About the Authors

Е. А. Reshetnikov
Belgorod State National Research University
Russian Federation

Еvgeny А. Reshetnikov – MD, PhD (Biology), Associate Professor, Department of Biomedical Disciplines, Medical Institute 

85 Pobedy Str., Belgorod 308007

I. V. Ponomarenko
Belgorod State National Research University
Russian Federation

Irina V. Ponomarenko – MD, Dr Sci Med, Professor, Department of Biomedical Disciplines, Medical Institute 

85 Pobedy Str., Belgorod 308007

M. I. Churnosov
Belgorod State National Research University
Russian Federation

Mikhail I. Churnosov – MD, Dr Sci Med, Professor, Head of the Department of Biomedical Disciplines, Medical Institute 

85 Pobedy Str., Belgorod 308007


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For citation:

Reshetnikov Е.А., Ponomarenko I.V., Churnosov M.I. Age of menarche in Russian women is associated with the ESR2 candidate gene. Obstetrics, Gynecology and Reproduction. 0;. (In Russ.)

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