THE EFFECT OF POLYMORPHISMS OF THE COL1A AND COL3A GENES ON PELVIC ORGAN PROLAPSE

Aim. To analyze the effect of polymorphisms rs1800012 and rs1107946 of the gene COL1A1, rs1800255 of the gene COL3A1 on the development of pelvic organ prolapse. Materials and methods. This paper describes the relationship of polymorphisms of the collagen genes COL1A1 and COL3A1 and pelvic organ prolapse in women. In 2018 we analyzed 268 women who were residents of the city of Belgorod and the Belgorod region, which were divided into 2 groups. The study was carried out by the genotyping of blood samples. Genotyping of polymorphic variants rs1800012 (1245G> T) and rs1107946 (C> A) of the COL1A1 gene and SNP rs1800255 of the COL3A1 gene was performed using real-time PCR. Results. The frequencies of minor alleles of the COL1A1 and COL3A1 genes in the population of the Belgorod region were comparable with those among European populations. A statistically significant association of SNP rs1800255 of the COL3A1 gene was identified with a reduced risk of pelvic organ prolapse. A SNP rs1800255 minor allele was more common among healthy women than among women with pelvic organ prolapse. Conclusion. In our study, a high association of rs1800255 polymorphism of the COL3A1 gene and pelvic organ prolapse in women of the Belgorod region was confirmed. At the same time, no connection between the rs1800012 and rs1107946 polymorphisms of the COL1A1 gene and genital prolapse was detected.

COL1A1, COL3A1, genital prolapse, pelvic organ prolapse, women, collagen, genes, genetic predisposition, COL1A1, COL3A1

1. Акуленко Л.В. Дисфункция тазового дна у женщин в аспекте генетических исследований / Л.В. Акуленко, Г.Р. Касян, Ю.О. Козлова [и др.] // Урология. - 2017. -№1. - С. 76-82.

2. Демура Т.А. Клинико-морфологическая и молекулярно-генетическая характеристика миометрия при несостоятельности рубца матки после КС у женщин с признаками недифференцированной формы дисплазии соединительной ткани. / Т.А. Демура, Е.А Коган, А.Е. Донников и др. // Архив патологии. - 2012. - № 4. - С 18-21.

3. Краснопольский В.И. Хирургическое лечение больных с опущением и выпадением внутренних половых органов и профилактика опущения купола влагалища после гистерэктомии. / В.И. Краснопольский, С.Н. Буянова, Н.А. Щукина и др. // Российский вестник акушера-гинеколога. - 2006. - №6 (4). - С 66-71.

4. Маниатис Т. Методы генной инженерии. Молекулярное клонирование. / Т. Маниатис, Э. Фрич, Д. Сэмбрук. - М.: Мир, 1984. - 480 с.

5. Радзинский В.Е. Перинеология: Болезни женской промежности в акушерско-гинекологических, сексологических, урологических, проктологических аспектах. / В.Е. Радзинский, Ю.М. Дурандин, Ч.Г. Гагаев, Л.Р. Токтар, Н.А. Марилова [и др.] - М.: 2006. - 336 с.

6. Радзинский В.Е. Особенности накопления коллагенов I и III типов и эластина в связочном аппарате матки при пролапсах гениталий / В.Е. Радзинский, М.Л. Ханзадян, Т.А. Демура, Р. Коннон // Медицинский вестник Юга России. - 2014. - №4. - С. 95-100

7. Cartwright R., Kirby A. C., Tikkinen K.A., Mangera A., Thiagamoorthy G., et al., Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women. American Journal of Obstetrics and Gynecology, 2015, Vol. 212 (2), pp. 199-e1-24.

8. Chiaffarino F., Chatenoud F., Dindelli M., Meschia M., Buonaguidi A., Amicarelli F., Surace M., Bertola E., Di Cintio E., Parazzini F., Reproductive factors, family history, occupation and risk of urogenital prolapse. European Journal of Obstetrics and Gynecology and Reproductive Biology, 1999, Vol. 82 (1), pp. 63-7.

9. Jack G. S., Nikolova G., Vilian E., Raz S., Rodriguez L.V, Familial transmission of genitovaginal prolapse. International urogynecology journal and pelvic floor dysfunction, 2006, Vol. 17 (5), pp. 498-501.

10. Lince S. L., Kempen L. C., Dijkstra J. R., In-tHout J., Vierhout M.R. et al., Collagen type III alpha 1 polymorphism (^1800255, COL3A1 2209 G>A) assessed with high-resolution melting analysis is not associated with pelvic organ prolapse in the Dutch population. International Urogynecology Journal, 2014, Vol. 25(9), pp. 1237-42.

11. Pearce N. What does the odds ratio estimate in a case-control study? International Journal of Epidemiology, 1993, Vol. 22, No. 6, pp. 1189-1192.

12. Samuelsson E. C., Victor F. T., Tibblin G., Svard-sudd K.F. Signs of genital prolapse in a Swedish population of women 20 to 59 years of age and possible related factors. American Journal of Obstetrics and Gynecology, 1999, Vol. 180, pp. 299-305

13. Schaffer J. I., Bloom S. L. A randomized trial of the effects of coached vs uncoached maternal pushing during the second stage of labor on postpartum pelvic floor structure and function. American Journal of Obstetrics and Gynecology,, 2005, Vol. 192 (5), pp. 1692-1696.

14. Sole X. et al. SNPStats: a web tool for the analysis of association studies. Bioinformatics, 2006, No. 22 (15), pp. 1928-1929.

15. Ward R.M., Edwards D.R., Edwards T., Giri A., Jerome R.N., Wu J.M., Genetic Epidemiology of Pelvic Organ Prolapse: A Systematic Review. American Journal of Obstetrics and Gynecology, 2014, Vol. 211 (4), p. 326-335.