Top

International Urogynecology Journal

Published in:

01-01-2020 | Original Article

Identification of pelvic organ prolapse risk susceptibility gene SNP locus in Xinjiang women

Authors: Aibibuhan· Abulaizi, Abudoureyimu· Abula, Gulina· Ababaikeli, Xiaohui Wan, Rong Du, Adilai Zhakeer

Published in: International Urogynecology Journal | Issue 1/2020

Abstract

Introduction and hypothesis

Susceptibility genes play an important role and have regional specificity in the occurrence of pelvic organ prolapse (POP). This study aims to identify POP susceptibility genes and their loci in ethnic minorities with different genetic backgrounds from Xinjiang in China, providing a theoretical basis for early POP diagnosis, treatment and prevention.

Methods

Genomic DNA from peripheral blood of 196 patients was prepared; there were 88 POP patients and 108 non-pelvic floor dysfunction patients. We selected 16 different susceptibility gene single-nucleotide polymorphism (SNP) loci, which had been identified as associated with POP risk by researchers in other countries, and carried out genotyping through the Snapshot reaction. The allele and genotype frequencies, odds ratio (OR) and 95% confidence interval (CI) were analyzed using SPSS 17.0 software.

Results

The genotypic and allelic distributions demonstrated significant differences between the patients and the control subjects in the group of minority women, details are as follows: ESR1 rs17847075 AG: OR = 2.738, 95% CI = 1.067–7.025, P = 0.041; ESR1 rs2234693 TC: OR = 2.99, 95% CI = 1.163–7.684, P = 0.024; ZFAT rs1036819 CC: OR = 10.286, 95% CI = 1.158–91.386, P = 0.036; allele C: OR = 2.212, 95% CI = 1.146–4.269; P = 0.02; FBLN5 rs12589592 AA: OR = 0.111, 95% CI = 0.013–0.952, P = 0.029; allele A: OR = 0.482, 95% CI = 0.254–0.913, P = 0.028.

Conclusions

ESR1 rs17847075 genotype AG in the dominant model (P = 0.008) or heterozygous model (P = 0.045), ESR1 rs2234693 genotype TC in the dominant model (P = 0.008) or heterozygous model (P = 0.028), and ZFAT rs1036819 genotype CC and allele C in the recessive model (P = 0.042) were significantly associated with POP risk in Xinjiang woman.

Available only for authorised users

Tegerstedt G, Maehle-Schmidt M, Nyrén O, Hammarström M. Prevalence of symptomatic pelvic organ prolapse in a Swedish population. Int Urogynecol J Pelvic Floor Dysfunction. 2005;16(6):497–503. https://doi.org/10.1007/s00192-005-1326-1.CrossRef

Sears CL, Wright J, O'Brien J, Jezior JR, Hernandez SL, Albright TS, et al. The racial distribution of female pelvic floor disorders in an equal access health care system. J Ural. 2009;181(1):187–92. https://doi.org/10.1016/j.juro.2008.09.035.CrossRef

Slieker-ten Hove MC, Pool-Goudzwaard AL, Eijkemans MJ, Steegers-Theunissen RP, Burger CW, Vierhout ME. Symptomatic pelvic organ prolapse and possible risk factors in a general population. Am J Obstet Gynecol. 2009;200(2):184 e1–7. https://doi.org/10.1016/j.ajog.2008.08.070.CrossRef

Rodrigues AM, De Oliveira LM, Martins Kde F, Del Roy CA, Sartori MG, Girão MJ, et al. Risk factors for genital prolapse in a Brazilian population. Rev Bras Ginecol Obstet. 2009;31(1):17–21. https://doi.org/10.1590/S0100-72032009000100004.CrossRefPubMed

Bump RC, Norton PA. Epidemiology and natural history of pelvic floor dysfunction. Obstet Gynecol Clin N Am. 1998;25(4):723–46. https://doi.org/10.1016/S0889-8545(05)70039-5.CrossRefPubMed

Harris RL, Cundiff GW, Coates KW, Bump RC. Obstet Gynecol. 1998;92(6):951–4.PubMed

Jack GS, Nikolova G, Vilain E, Raz S, Rodríguez LV. Familial transmission of genitovaginal prolapse. Int Urogynecol J Pelvic Floor Dysfunction. 2006;17(5):498–501. https://doi.org/10.1007/s00192-005-0054-x.CrossRef

Altman D, Forsman M, Falconer C, Lichtenstein P. Genetic influence on stress urinary incontinence and pelvic organ prolapse. Eur Urol. 2008;54(4):918–22. https://doi.org/10.1016/j.eururo.2007.12.004.CrossRefPubMed

Buchsbaum GM, Duecy EE, Kerr LA, Huang L-S, Perevich M, Guzick DS. Pelvic organ prolapse in nulliparous women and their parous sisters. Obstet Gynecol. 2006;108(6):1388–93. https://doi.org/10.1097/01.AOG.0000245784.31082.ed.CrossRefPubMed

10.

Lince SL, van Kempen LC, Vierhout ME, Kluivers KB. A systematic review of clinical studies on hereditary factors in pelvic organ prolapse. Int Urogynecol J. 2012;23(10):1327–36. https://doi.org/10.1007/s00192-012-1704-4.CrossRefPubMedPubMedCentral

11.

Friedman T, Eslick GD, Dietz HP. Risk factors for prolapse recurrence: systematic review and meta-analysis. Int Urogynecol J. 2017;29(1):13–21. https://doi.org/10.1007/s00192-017-3475-4.CrossRefPubMed

12.

Ferrell G, Lu M, Stoddard P, Sammel MD, Romero R, Strauss JF 3rd, et al. A single nucleotide polymorphism in the promoter of the LOXL1 gene and its relationship to pelvic organ prolapse and preterm premature rupture of membranes. Report Sci. 2009;16(5):438–46. https://doi.org/10.1177/1933719108330567.CrossRef

13.

Nikolova G, Lee H, Berkovitz S, et al. Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse. Hum Genet. 2007;120(6):847–56. https://doi.org/10.1007/s00439-006-0267-1.CrossRefPubMed

14.

Chen HY, Chung YW, Lin WY, Chen WC, Tsai FJ, Tsai CH. Estrogen receptor alpha polymorphism is associated with pelvic organ prolapse risk. Int Urogynecol J Pelvic Floor Dysfunct. 2008;19(8):1159–63. https://doi.org/10.1007/s00192-008-0603-1.CrossRefPubMed

15.

Chen HY, Wan L, Chung YW, Chen WC, Tsai FJ, Tsai CH. Estrogen receptor beta gene haplotype is associated with pelvic organ prolapse. Eur J Obstet Gynecol Reprod Biol. 2008;138(1):105–9. https://doi.org/10.1016/j.ejogrb.2007.12.013.CrossRefPubMed

16.

Chen HY, Chung YW, Lin WY, Chen WC, Tsai FJ, Tsai CH. Progesterone receptor polymorphism is associated with pelvic organ prolapse risk. Acta Obstet Gynecol Scand. 2009;88(7):835–8.CrossRefPubMed

17.

Kluivers KB, Dijkstra JR, Hendriks JC, Lince SL, Vierhout ME, van Kempen LC. COL3A1 2209G>a is a predictor of pelvic organ prolapse. Int Urogynecol J Pelvic Floor Dysfunct. 2009;20(9):1113–8.CrossRefPubMed

18.

Chen HY, Chung YW, Lin WY, Wang JC, Tsai FJ, Tsai CH. Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse. Int J Gynaecol Obstet. 2008;103(1):55–8. https://doi.org/10.1016/j.ijgo.2008.05.031.CrossRefPubMed

19.

Jeon MJ, Chung SM, Choi JR, Jung HJ, Kim SK, Bai SW. The relationship between COL3A1 exon 31 polymorphism and pelvic organ prolapse. J Urol. 2009;181(3):1213–6.CrossRefPubMed

20.

Martins Kde F, de Jármy-DiBella ZI, da Fonseca AM, et al. Evaluation of demographic, clinical characteristics, and genetic polymorphism as risk factors for pelvic organ prolapse in Brazilian women. Neurourol Urodyn. 2011;30(7):1325–8.PubMed

21.

Chen HY, Lin WY, Chen YH, Chen WC, Tsai FJ, Tsai CH. Matrix metalloproteinase-9 polymorphism and risk of pelvic organ prolapse in Taiwanese women. Eur J Obstet Gynecol Reprod Biol. 2010;149(2):222–4. https://doi.org/10.1016/j.ejogrb.2009.12.014.CrossRefPubMed

22.

Allen-Brady K, Norton PA, Farnham JM, Teerlink C, Cannon- LA. Significant linkage evidence for a predisposition gene for pelvic floor disorders on chromosome 9q21. Am J Hum Genet. 2009;84(5):678–82. https://doi.org/10.1016/j.ajhg.2009.04.002.CrossRefPubMedPubMedCentral

23.

Tsunoda T, Takashima Y, Tanaka Y, Fujimoto T, Doi K, Hirose Y, et al. Immune-related zinc finger gene ZFAT is an essential transcriptional regulator for hematopoietic differentiation in blood islands. Proc Natl Acad Sci. 2010;107(32):14199–204. https://doi.org/10.1073/pnas.1002494107.CrossRefPubMedPubMedCentral

24.

Khadzhieva MB, Kamoeva SV, Chumachenko AG, Ivanova AV, Volodin IV, Vladimirov IS, et al. Fibulin-5 (FBLN5) gene polymorphism is associated with pelvic organ prolapse. Maturitas. 2014;78(4):287–92. https://doi.org/10.1016/j.maturitas.2014.05.003.CrossRefPubMed

25.

Skorupski P, Jankiewicz K, Miotła P, Marczak M, Kulik-Rechberger B, Rechberger T. The polymorphisms of the MMP-1 and the MMP-3 genes and the risk of pelvic organ prolapse. Int Urogynecol J. 2013;24(6):1033–8. https://doi.org/10.1007/s00192-012-1970-1.CrossRefPubMed

Title: Identification of pelvic organ prolapse risk susceptibility gene SNP locus in Xinjiang women
Authors: Aibibuhan· Abulaizi
Abudoureyimu· Abula
Gulina· Ababaikeli
Xiaohui Wan
Rong Du
Adilai Zhakeer
Publication date: 01-01-2020
Publisher: Springer International Publishing
Published in: International Urogynecology Journal / Issue 1/2020
Print ISSN: 0937-3462
Electronic ISSN: 1433-3023
DOI: https://doi.org/10.1007/s00192-019-04039-z

At a glance: The STEP trials

Springer Medicine

Identification of pelvic organ prolapse risk susceptibility gene SNP locus in Xinjiang women

Abstract

Introduction and hypothesis

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Introduction and hypothesis

Methods

Results

Conclusions

Please log in to get access to this content

Other articles of this Issue 1/2020

Latin American consensus on uncomplicated recurrent urinary tract infection—2018

Polymorphism rs1800255 from COL3A1 gene and the risk for pelvic organ prolapse

Experimental study of a new original mesh developed for pelvic floor reconstructive surgery

The role of tenascin-X in the uterosacral ligaments of postmenopausal women with pelvic organ prolapse: an immunohistochemical study

Anterior enterocele: a cause of recurrent prolapse after radical cystectomy

The relationship between running kinematics and the pelvic floor muscle function of female runners