Menarche as a pubertal stage and its genetic determinants

Ponomarenko I.V., Churnosov M.I.

Belgorod State National Research University, Belgorod, Russia
The paper carries out a systems analysis of the data available in the current literature on menarche as a pubertal stage and its molecular genetic determinants. It presents studies of menarche formation during pubertal development, as well as molecular genetic factors for its determinants. According to the literature, age at menarche is an important indicator of pubertal development in a woman and has molecular genetic determinants.

Keywords

menarche
puberty
genetic factors

References

1. Karapanou O., Papadimitriou A. Determinants of menarche. Reproductive Biology and Endocrinology: RB&E. 2010;8:115. doi:10.1186/1477-7827-8-115.

2. Yermachenko A., Dvornyk V. Nongenetic Determinants of Age at Menarche: A Systematic Review. BioMed Research International. 2014;2014:371583. doi:10.1155/2014/371583.

3. Plant T.M. Neuroendocrine control of the onset of puberty. Front Neuroendocrinol. 2015;38:73–88. doi:10.1016/j.yfrne.2015.04.002.

4. Abreu A.P., Kaiser U.B. Pubertal development and regulation. The lancet Diabetes & endocrinology. 2016;4(3):254-264. doi:10.1016/S2213-8587(15)00418-0.

5. Xing Y., Lerario A., Rainey W., Hammer G.D. Development of Adrenal Cortex Zonation. Endocrinology and metabolism clinics of North America. 2015;44(2):243-274. doi:10.1016/j.ecl.2015.02.001.

6. Richards J.S., Pangas S.A. The ovary: basic biology and clinical implications. J Clin Invest. 2010;120(4):963–72

7. Plant T.M. The hypothalamo-pituitary-gonadal axis. The Journal of endocrinology. 2015;226(2):T41-T54. doi:10.1530/JOE-15-0113.

8. Leonardi A., Cofini M., Rigante D., Lucchetti L., Cipolla C., Penta L., et al. The Effect of Bisphenol A on Puberty: A Critical Review of the Medical Literature. International Journal of Environmental Research and Public Health. 2017;14(9):1044. doi:10.3390/ijerph14091044.

9. Frisch R.E., Revelle R. Height and weight at menarche and a hypothesis of menarche. Archives of Disease in Childhood. 1971;46(249):695–701

10. Chou S.H, Mantzoros C.S. 20 years of leptin: role of leptin in human reproductive disorders. J Endocrinol. 2014;223(1):T49-T62. doi: 10.1530/JOE-14-0245

11. Park H.-K., Ahima R.S. Physiology of leptin: energy homeostasis, neuroendocrine function and metabolism. Metabolism: clinical and experimental. 2015;64(1):24-34. doi:10.1016/j.metabol.2014.08.004.

12. Guo X., Ji C. Earlier menarche can be an indicator of more body fat: study of sexual development and waist circumference in Chinese girls. Biomedical and Environmental Sciences. 2011;24(5):451–458.

13. Wise L.A., Laughlin-Tommaso S.K. Epidemiology of Uterine Fibroids – From Menarche to Menopause. Clinical obstetrics and gynecology. 2016;59(1):2-24. doi:10.1097/GRF.0000000000000164.

14. Nnoaham K.E., Webster P., Kumbang J., Kennedy S.H., Zondervan K.T. Is early age at menarche a risk factor for endometriosis? A systematic review and meta-analysis of case-control studies. Fertility and Sterility. 2012;98(3):702-712.e6. doi:10.1016/j.fertnstert.2012.05.035.

15. Tanikawa C., Okada Y., Takahashi A., Oda K., Kamatani N., Kubo M., et al. Genome Wide Association Study of Age at Menarche in the Japanese Population. PLoS ONE. 2013;8(5): e63821. doi:10.1371/journal.pone.0063821.

16. Jordan S.J., Webb P.M., Green A.C. Height, age at menarche, and risk of epithelial ovarian cancer. Cancer Epidemiol Biomarkers Prev. 2005;14:2045–2048.

17. Xu W.H., Xiang Y.B., Ruan Z.X., Zheng W., Cheng J.R., Dai Q., et al. Menstrual and reproductive factors and endometrial cancer risk: Results from a population-based case-control study in urban Shanghai. Int J Cancer. 2004;108:613–619.

18. Dreyfus J.G., Lutsey P.L., Huxley R., Pankow J.S., Selvin E., Fernández-Rhodes L., et al. Age at menarche and risk of type 2 diabetes among African-American and white women in the Atherosclerosis Risk in Communities (ARIC) study. Diabetologia. 2012;55(9):2371–2380.

19. Trikudanathan S., Pedley A., Massaro J.M., Hoffmann U., Seely E.W., Murabito J.M., et al. Association of female reproductive factors with body composition: the framingham heart study. Journal of Clinical Endocrinology and Metabolism. 2013;98(1):236–244.

20. McKibben S.L., Poston D. L. The influence of age at menarche on the fertility ofChinesewomen. Social Biology. 2003;50(3-4):222–237.

21. Richards J.S., Pangas S.A. The ovary: basic biology and clinical implications. J Clin Invest. 2010;120(4):963–72.

22. Rudra C.L., Williams M.A. BMI as a modifying factor in the relations between age at menarche, menstrual cycle characteristics, and risk of preeclampsia. Gynecol Endocrinol. 2005;21:200–205.

23. Freedman D.S., Khan L.K., Serdula M.K., Dietz W.H., Srinivasan S.R., Berenson G.S. Relation to age at menarche to race, time period,and anthropometric dimensions: the Bogalusa Heart Study. Pediatrics. 2002;110:e43. doi: 10.1542/peds.110.4.e43.

24. Parent A.S., Teilmann G.J., Juul A., Skakkebaekn N.E., Toppari J., Bourguignon J.P. The timing of normal puberty and the age limits of sexual precocity: variations around the world, secular trends, and changes after migration. Endocr Rev. 2003;24:668–693. doi: 10.1210/er.2002-0019.

25. Грицинская В.Л. Особенности репродуктивного здоровья девочек коренного населения Республики Тыва. Акушерство и гинекология. 2011; 2: 114-7. [Gritsinskaya V.L. Features of reproductive health of girls of the indigenous population of the Republic of Tyva. Obstetrics and gynecology. 2011; 2: 114-7. (in Russian)]

26. Тролукова А.Н., Тролукова Е.Н., Уварова Е.В. Особенности физического развития и полового созревания девочек, проживающих в экстремальных природно-климатических условиях Республики Саха (Якутия). Репродуктивное здоровье детей и подростков. 2012; 1: 76-88. [Trolukova A.N., Trolukova E.N., Uvarova E.V. Features of development and puberty of girls living in extreme climatic conditions of the Republic of Sakha (Yakutia). Reproductive health of children and adolescents. 2012; 1: 76-88. (in Russian)]

27. Гладкая В.С., Грицинская В.Л. Характеристика полового развития девочек-подростков коренного и пришлого населения Республики Хакасия. Репродуктивное здоровье детей и подростков. 2015; 2: 58-62. [Gladkaya V.S., Gritsinskaya V.L. Characteristics of the sexual development of adolescent girls of the indigenous and alien population of the Republic of Khakassia. Reproductive health of children and adolescents. 2015; 2: 58-62. (in Russian)]

28. Гладкая В.С., Грицинская В.Л., Медведева Н.Н. Становление менструального цикла у девочек коренного и пришлого населения Республики Хакасии. Репродуктивное здоровье детей и подростков. 2017; 1: 12-18. [Gladkaya V.S., Gritsinskaya V.L., Medvedeva N.N. Formation of the menstrual cycle in girls of the indigenous and alien population of the Republic of Khakassia. Reproductive health of children and adolescents. 2017; 1: 12-18. (in Russian)]

29. Артымук Н. В., Апыхтина Н. А. Мониторинг репродуктивного здоровья девочек-подростков Кемеровской области. Репродуктивное здоровье детей и подростков. 2017; 6: 13-21. [Artymuk N.V., Apikhtina N.A. Monitoring the reproductive health of adolescent girls in the Kemerovo Region. Reproductive health of children and adolescents. 2017; 6: 13-21. (in Russian)]

30. Грицинская В.Л., Мамедова С.М., Никитина И.Л. Показатели физического и полового развития девочек пубертатного возраста в Санкт-Петербурге. Репродуктивное здоровье детей и подростков. 2017; 6: 22-29. [Gritsinskaya V.L., Mamedova S.M., Nikitina I.L. Indicators of physical and sexual development of girls of puberty in St. Petersburg. Reproductive health of children and adolescents. 2017; 6: 22-29. (in Russian)]

31. Гладкая В.С., Грицинская В.Л., Медведева Н.Н. Соматометрические аспекты полового развития девочек коренного и пришлого населения Республики Хакасии. Акушерство и гинекология. 2018; 1: 102-6. https://dx.doi.org/10.18565/aig.2018.1.102-106. [Gladkaya V.S., Gritsinskaya V.L., Medvedeva N.N. Somatometric aspects of the sexual development of girls of the indigenous and alien population of the Republic of Khakassia. Obstetrics and gynecology. 2018; 1: 102-6. (in Russian)] https://dx.doi.org/10.18565/aig.2018.1.102-106

32. Chie W.C., Liu Y.H., Chi J., Wu V., Chen A. Predictive factors for early menarche in Taiwan. J Formos Med Assoc. 1997;96:446-450.

33. Ong K.K., Elks C.E., Li S., Zhao J.H., Luan J., Andersen L.B. et al. Genetic variation in LIN28B is associated with the timing of puberty. Nat. Genet. 2009;41:729–733.

34. He C., Kraft P., Chen C., Buring J.E., Paré G., Hankinson S.E., et al. Genome-wide association studies identify novel loci associated with age at menarche and age at natural menopause. Nat. Genet. 2009;41:724–728. doi: 10.1038/ng.385.

35. Sulem P., Gudbjartsson D.F., Rafnar T., Holm H., Olafsdottir E.J., Olafsdottir G.H., et al. Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche. Nat. Genet. 2009;41:734–738.

36. Perry J.R.B., Stolk L., Franceschini N., Lunetta K.L., Zhai G., McArdle P.F., et al. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. Nat. Genet. 2009;41:648–650.

37. Liu Y.Z., Guo Y.F., Wang L., Tan L.J., Liu X.G., Pei Y.F., et al. Genome-wide association analyses identify SPOCK as a key novel gene underlying age at menarche// PLoS Genet. 2009 Mar;5(3):e1000420. doi: 10.1371/journal.pgen.1000420.

38. Elks C.E., Perry J.R.B., Sulem P., Chasman D.I., Franceschiniт N., He C., et al. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat. Genet. 2010;42:1077–1085.

39. Demerath E.W., Liu C.-T., Franceschini N., Chen G., Palmer J.R., Smith E.N., et al. Genome-wide association study of age at menarche in African-American women. Hum Mol Genet. 2013;22:3329–3346. doi:10.1093/hmg/ddt181.

40. Perry J.R., Day F., Elks C.E., Sulem P., Thompson D. J., Ferreira T. et al. Parent-of-origin specific allelic associations among 106 genomic loci for age at menarche. Nature. 2014;514(7520):92-97. doi:10.1038/nature13545.

41. Pyun J.A., Kim S., Cho N.H., Koh I., Lee J.Y., Shin C., et al. Genome-wide association studies and epistasis analyses of candidate genes related to age at menarche and age at natural menopause in a Korean population. Menopause. 2014;21:522–9. doi: 10.1097/GME.0b013e3182a433f7.

42. Shi J., Zhang B., Choi J.-Y., Gao Y.-T., Li H., Lu W., Shu X.-O. Age at menarche and age at natural menopause in East Asian women: a genome-wide association study. Age. 2016;38(5-6):513–523. doi.org/10.1007/s11357-016-9939-5

43. He C., Kraft P., Buring J.E., Chen C., Hankison S.E., Pare G., et al. A large-scale candidate-gene association study of age at menarche and age at natural menopause. Hum. Genet. 2010;128:515–527.

44. Fernandez-Rhodes L., Demerath E.W., Cousminer D.L., Tao R., Dreyfus J.G., Esko T., et al. Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. Am. J. Epidemiol. 2013;178: 451–460.

45. Lunetta K.L., Day F.R., Sulem P., Ruth K. S., Tung J. Y., Hinds D. A., et al. Rare coding variants and X-linked loci associated with age at menarche. Nature Communications. 2015;6:7756. doi:10.1038/ncomms8756.

46. Delahanty R.J., Beeghly-Fadiel A., Long J.R., Gao Y.T., Lu W., Xiang Y.B., et al. Evaluation of GWAS-identified genetic variants for age at menarche among Chinese women. Hum Reprod. 2013;28:1135–43. doi: 10.1093/humrep/det011.

47. Carty C.L., Spencer K.L., Setiawan V.W., Fernandez-Rhodes L., Malinowski J., Buyske S., et al. Replication of genetic loci for ages at menarche and menopause in the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) study. Human Reproduction (Oxford, England). 2013;28(6):1695-1706. doi:10.1093/humrep/det071.

48. Yermachenko A., Dvornyk V. UGT2B4 previously implicated in the risk of breast cancer is associated with menarche timing in Ukrainian females. Gene. 2016; 590(1):85–89. doi: 10.1016/j.gene.2016.06.015.

49. Рудых Н.А., Сиротина С.С. Генетические соотношения русских и украинских популяций Белгородской области. Научный результат. Медицина и фармация. 2015;1(3):72-79. [Rudyh N.A., Sirotina S.S. Genetic interrelations of Russian and Ukrainian populations of Belgorod region. Research Result. Medicine and Pharmacy. 2015;1(3):72-79. (in Russian)]. DOI: 10.18413/2313-8955-2015-1-3-72-79

50. Пономаренко И.В. Отбор полиморфных локусов для анализа ассоциаций при генетико-эпидемиологических исследованиях. Научный результат. Медицина и фармация. 2018;4(2):40-54. [Ponomarenko I.V. Selection of polymorphic locuses for analysis of association in genetic-epidemiological researches. Research Result. Medicine and Pharmacy. 2018; 4(2):40-54. (in Russian)]. DOI: 10.18413/2313-8955-2018-4-2-0-5

Received 08.02.2018

Accepted 02.03.2018

About the Authors

Ponomarenko, Irina V., MD, associate professor of the Department of Biomedical Disciplines of the Medical Institute, Belgorod State National Research University.
Address: Russia, 308015, Belgorod, Pobedy str. 85. Tel.: +74722301383. E-mail: ponomarenko_i@bsu.edu.ru. https://orcid.org/0000-0002-5652-0166.
Churnosov, Mikhail I., MD, professor, head of the Department of Biomedical Disciplines Medical Faculty, Belgorod State National Research University.
308015, Russia, Belgorod, Pobedy str. 85. Tel.: +74722301383. E-mail: churnosov@bsu.edu.ru. http://orcid.org/0000-0003-1254-6134.

For citations: Ponomarenko I.V., Churnosov M.I. Menarche as a pubertal stage and its genetic determinants. Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2018; (12): 18-22. (in Russian)
http://dx.doi.org/10.18565/aig.2018.12.18-22

Similar Articles

By continuing to use our site, you consent to the processing of cookies that ensure the proper functioning of the site.