ASSOCIATION OF POLYMORPHISM OF 1800255 COL3A1


如何引用文章

全文:

开放存取 开放存取
受限制的访问 ##reader.subscriptionAccessGranted##
受限制的访问 订阅或者付费存取

详细

Relevance. Collagen type I and III have a significant role in the development of pelvic organ prolapse (POP) and urinary incontinence in women. The role of the COL3A1 gene polymorphism remains debatable. Some studies and meta-analyzes have found a direct correlation between genetic defects and POP, while other researchers have not confirmed this association. This study aimed to investigate the association of the 1800255 COL3A1 gene polymorphism with the development of POP and urinary incontinence in women. Materials and methods. The study group comprised 52 patients (mean age 64.4 years) with verified POP and stress urinary incontinence. The control group included 21 patients without pelvic floor dysfunction. Patients were comparable in age and had at least one or more risk factors for developing pelvic floor dysfunction. Exclusion criteria for both groups were Marfan and Ehlers-Danlos syndromes and a history of surgery for POP or incontinence (for the control group). In all women, saliva samples were collected to detect polymorphism at the rs1800255 locus of the COL3A1 gene. Genotyping was conducted by Sanger sequencing. Results. In patients with isolated genital prolapse, homozygous polymorphism (AA) had a low sensitivity (0.06) but an extremely high specificity (0.95). Heterozygote (GA) had the sensitivity of 0.35, the specificity of 0.53, and the AUC of 0.44. For urinary incontinence by homozygote (AA), sensitivity was 0.08, specificity 0.96, and by heterozygote (GA) 0.45 and 0.63, respectively. For the combination of pelvic prolapse and urinary incontinence by homozygote (AA), sensitivity was 0.07, specificity 1.0, and heterozygote (GA) 0.41 and 0.62, respectively. Conclusion. Given the high specificity of the polymorphism at the rs1800255 locus of the COL3A1 gene, determined by the Sanger sequencing, it can be concluded that there is an association between this polymorphism and urinary incontinence and POP in women.

全文:

受限制的访问

作者简介

G. Kasyan

A.I. Evdokimov Moscow State University of Medicine and Dentistry

Email: g.kasyan@outlook.com
Dr.Med.Sci., Prof. at the Department of Urology

D. Vishnevskii

A.I. Evdokimov Moscow State University of Medicine and Dentistry

Email: dimonvishnevskii050590@yandex.ru
Ph.D. Student at the Department of Urology

L. Akulenko

A.I. Evdokimov Moscow State University of Medicine and Dentistry

Email: akular@list.ru
Dr.Med.Sci., Prof., Head of the Department of Medical Genetics

Yu. Kozlova

A.I. Evdokimov Moscow State University of Medicine and Dentistry

Email: kozlova.julie@gmail.com
Ph.D. Associate Professor at the Department of Medical Genetics

E. Sharova

Federal Research & Clinical Center of Physical-Chemical Medicine of the Federal Medical Biological Agency of Russia

Email: sharova78@gmail.com
Ph.D. (bio.sci.), Junior Researcher at the Federal Research & Clinical Center of Physical-Chemical Medicine

N. Tupikina

A.I. Evdokimov Moscow State University of Medicine and Dentistry

Email: tatatu@yandex.ru
Senior Laboratory Assistant at the Department of Urology

D. Pushkar

A.I. Evdokimov Moscow State University of Medicine and Dentistry

Email: pushkardm@mail.ru
Corr.-Member of the RAS, Dr.Med.Sci., Prof., Head of the Department of Urology

参考

  1. Buyanova S.N., Savel’ev S.V., Fedorov A.A. The role of CTD in the pathogenesis of prolapse of genitalia. Rossiiskii vestnik akushera-ginekologa. Spetsvypusk. 2008; 8-11.
  2. Sukhikh G.T., Danilov A.Yu., Botasheva D.A. The role of immunohistochemical and genetic factors in clarifying the etiology and pathogenesis of genital prolapse in women. Rossiiskii vestnik akushera-ginekologa. 2012;2:47-50.
  3. Jeon M.J., Chung S.M., Choi J.R., Jung H.J., Kim S.K., Bai S.W. The relationship between COL3A1 exon 31 polymorphism and pelvic organ prolapse. J Urol. 2009;181(3): 1213-1216.
  4. http://www.cdc.gov/genomics/hugenet/hugenavigator.htm
  5. Lince S.L., van Kempen L.C., Vierhout M.E., Kluivers K.B. A systematic review of clinical studies on hereditary factors in pelvic organ prolapse. Int Urogynecol J. 2012;23(10):1327-1336.
  6. Kluivers K.B., Dijkstra J.R., Hendriks J.C., Lince S.L., Vierhout M.E., van Kempen L.C. COL3A1 2209 G>A is a predictor of pelvic organ prolapse. Int Urogynecol J Pelvic Floor Dysfunct. 2209;20(9):1113-1118.
  7. Chen H.Y., Chung Y.W., Lin W.Y., Wang J.C., Tsai F.J., Tsai C.H. Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse. Int J Gynaecol Obstet. 2008;103(1):55-58.
  8. Sanger F., Coulson A.R. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J. Mol. Biol. 1975;94 (3):441-448.
  9. Ward R.M., Velez Edwards D.R., Edwards T., Giri A., Jerome R.N., Wu J.M. Genetic epidemiology of pelvic organ prolapse: a systematic review. Am J Obstet Gynecol. 2014;211(4):326-335.
  10. Cartwright R., Kirby A.C., Tikkinen K.A., Mangera A., Thiagamoorthy G., Rajan P., Pesonen J.S., Ambrose C., Gonzalez-Maffe J., Bennett P., Palmer T., Walley A., Järvelin M.R., Chapple C., Khullar V. Systematic review and meta-analysis of genetic association studies of urinary symptoms and prolapse in women. Am J Obstet Gynecol. 2015;212(2):199-199.
  11. Lince S.L., van Kempen L.C., Vierhout M.E., Kluivers K.B. (2012) A systematic review of clinical studies on hereditary factors in pelvic organ pro-lapse. Int Urogynecol J. 2012;23(10):1327-1336.
  12. Chen H.Y., Chung Y.W., Lin W.Y., Wang J.C., Tsai F.J., Tsai C.H. Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse. Int J Gynaecol Obstet. 2008;103(1): 55-58.
  13. Jeon M.J., Chung S.M., Choi J.R., Jung H.J., Kim S.K., Bai S.W. The relationship between COL3A1 exon 31 polymorphism and pelvic organ prolapse. J Urol. 2009;181(3): 1213-1216.
  14. Martins Kde F., de Jármy-DiBella Z.I., da Fonseca A.M., Castro R.A., da Silva I.D., Girão M.J., Sartori M.G. Evaluation of demographic, clinical characteristics, and genetic poly-morphism as risk factors for pelvic organ prolapse in Brazilian women. Neurourol Urodyn. 2011;30(7):1325-1328.

补充文件

附件文件
动作
1. JATS XML
下载

版权所有 © Bionika Media, 2017
##common.cookie##