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01.09.2009 | Original Article

COL3A1 2209G>A is a predictor of pelvic organ prolapse

verfasst von: Kirsten B. Kluivers, Jeroen R. Dijkstra, Jan C. M. Hendriks, Sabrina L. Lince, Mark E. Vierhout, Léon C. L. van Kempen

Erschienen in: International Urogynecology Journal | Ausgabe 9/2009

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Abstract

Introduction and hypothesis

A familial tendency has been demonstrated in the etiology of pelvic organ prolapse (POP), but the specific genetic defects have not been identified. Type III collagen is an important factor in the repair of connective tissue, and gene polymorphisms may impair the tensile strength. We hypothesized that polymorphisms in the alpha I chain of the type III collagen protein-encoding gene (COL3A1) pose women at risk for POP.

Methods

In this case–control study, the prevalence of type III collagen polymorphisms was compared in women with and without signs and symptoms of POP.

Results

Two hundred and two POP patients and 102 normal parous controls were included. A homozygous single-nucleotide substitution in the coding region of type III collagen (COL3A1 2209G>A, rs1800255) was identified in 27 (13%) POP patients and three (3%) controls (odds ratio, 5.0; 95% confidence interval, 1.4–17.1).

Conclusions

The probability of POP was higher in women with COL3A1 2209G>A. This polymorphism showed to be a relevant risk factor for POP.

Hansell NK, Dietz HP, Treloar SA, Clarke B, Martin NG (2004) Genetic covariation of pelvic organ and elbow mobility in twins and their sisters. Twin Res 7:254–260PubMedCrossRef

Jack GS, Nikolova G, Vilain E, Raz S, Rodriguez LV (2006) Familial transmission of genitovaginal prolapse. Int Urogynecol J Pelvic Floor Dysfunct 17:498–501PubMedCrossRef

McLennan MT, Harris JK, Kariuki B, Meyer S (2008) Family history as a risk factor for pelvic organ prolapse. Int Urogynecol J Pelvic Floor Dysfunct 19:1063–1069PubMedCrossRef

Tegerstedt G, Miedel A, Maehle-Schmidt M, Nyren O, Hammarstrom M (2006) Obstetric risk factors for symptomatic prolapse: a population-based approach. Am J Obstet Gynecol 194:75–81PubMedCrossRef

Carley ME, Schaffer J (2000) Urinary incontinence and pelvic organ prolapse in women with Marfan or Ehlers–Danlos syndrome. Am J Obstet Gynecol 182:1021–1023PubMedCrossRef

Kerkhof MH, Hendriks L, Brölmann HA (2009) Changes in connective tissue in patients with pelvic organ prolapse—a review of the current literature. Int Urogynecol J Pelvic Floor Dysfunct 20:461–474PubMedCrossRef

Chou HT, Hung JS, Chen YT, Wu JY, Tsai FJ (2004) Association between COL3A1 collagen gene exon 31 polymorphism and risk of floppy mitral valve/mitral valve prolapse. Int J Cardiol 95:299–305PubMedCrossRef

Kontusaari S, Tromp G, Kuivaniemi H, Romanic AM, Prockop DJ (1990) A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. J Clin Invest 86:1465–1473PubMedCrossRef

Tromp G, Kleinert C, Kuivaniemi H, Prockop DJ (1991) C to T polymorphism in exon 33 of the COL3A1 gene. Nucleic Acids Res 19:681PubMedCrossRef

10.

Zafarullah K, Kleinert C, Tromp G, Kuivaniemi H, Kontusaari S, Wu YL et al (1990) G to A polymorphism in exon 31 of the COL3A1 gene. Nucleic Acids Res 18:6180PubMedCrossRef

11.

Tromp G, Wu Y, Prockop DJ, Madhatheri SL, Kleinert C, Earley JJ et al (1993) Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms. J Clin Invest 91:2539–2545PubMedCrossRef

12.

Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ et al (2001) Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers–Danlos syndrome, Ehlers–Danlos syndrome type IV. Am J Hum Genet 69:989–1001PubMedCrossRef

13.

Brega KE, Seltzer WK, Munro LG, Breeze RE (1996) Genotypic variations of type III collagen in patients with cerebral aneurysms. Surg Neurol 46(3):253–256PubMedCrossRef

14.

Muckian C, Fitzgerald A, O’Neill A, O’Byrne A, Fitzgerald DJ, Shields DC (2002) Genetic variability in the extracellular matrix as a determinant of cardiovascular risk: association of type III collagen COL3A1 polymorphisms with coronary artery disease. Blood 100:1220–1223PubMedCrossRef

15.

Chen HY, Chung YW, Lin WY, Wang JC, Tsai FJ, Tsai CH (2008) Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse. Int J Gynaecol Obstet 103:55–58PubMedCrossRef

16.

Farndale RW, Lisman T, Bihan D, Hamaia S, Smerling CS, Pugh N et al (2008) Cell-collagen interactions: the use of peptide Toolkits to investigate collagen-receptor interactions. Biochem Soc Trans 36(Pt 2):241–250PubMedCrossRef

17.

Chen HY, Chung YW, Lin WY, Chen WC, Tsai FJ, Tsai CH (2008) Estrogen receptor alpha polymorphism is associated with pelvic organ prolapse risk. Int Urogynecol J Pelvic Floor Dysfunct 19:1159–1163PubMedCrossRef

18.

Rodrigues AM, Girao MJ, da Silva I, Sartori MG, Martins KD, Castro RD (2008) COL1A1 Sp1-binding site polymorphism as a risk factor for genital prolapse. Int Urogynecol J Pelvic Floor Dysfunct 19:1471–1475PubMedCrossRef

19.

Skorupski P, Krol J, Starega J, Adamiak A, Jankiewicz K, Rechberger T (2006) An alpha-1 chain of type I collagen Sp1-binding site polymorphism in women suffering from stress urinary incontinence. Am J Obstet Gynecol 194:346–350PubMedCrossRef

20.

Skorupski P, Miotla P, Jankiewicz K, Rechberger T (2007) Polymorphism of the gene encoding alpha-1 chain of collagen type I and a risk of pelvic organ prolapse—a preliminary study. Ginekol Pol 78(11):852–855PubMed

21.

Nikolova G, Lee H, Berkovitz S, Nelson S, Sinsheimer J, Vilain E et al (2007) Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse. Hum Genet 120:847–856PubMedCrossRef

22.

Visco AG, Yuan L (2003) Differential gene expression in pubococcygeus muscle from patients with pelvic organ prolapse. Am J Obstet Gynecol 189:102–112PubMedCrossRef

23.

Boreham MK, Miller RT, Schaffer JI, Word RA (2001) Smooth muscle myosin heavy chain and caldesmon expression in the anterior vaginal wall of women with and without pelvic organ prolapse. Am J Obstet Gynecol 185:944–952PubMedCrossRef

24.

Chen B, Wen Y, Polan ML (2004) Elastolytic activity in women with stress urinary incontinence and pelvic organ prolapse. Neurourol Urodyn 23:119–126PubMedCrossRef

25.

Hong X, Huang L, Song Y (2008) Role of vasoactive intestinal peptide and pituitary adenylate cyclase activating polypeptide in the vaginal wall of women with stress urinary incontinence and pelvic organ prolapse. Int Urogynecol J Pelvic Floor Dysfunct 19:1151–1157PubMedCrossRef

26.

Keane DP, Sims TJ, Abrams P, Bailey AJ (1997) Analysis of collagen status in premenopausal nulliparous women with genuine stress incontinence. Br J Obstet Gynaecol 104:994–998PubMed

27.

Wong MY, Harmanli OH, Agar M, Dandolu V, Grody MH (2003) Collagen content of nonsupport tissue in pelvic organ prolapse and stress urinary incontinence. Am J Obstet Gynecol 189:1597–1599PubMedCrossRef

28.

Bai SW, Chung DJ, Yoon JM, Shin JS, Kim SK, Park KH (2005) Roles of estrogen receptor, progesterone receptor, p53 and p21 in pathogenesis of pelvic organ prolapse. Int Urogynecol J Pelvic Floor Dysfunct 16:492–496PubMedCrossRef

29.

Hundley AF, Yuan L, Visco AG (2008) Gene expression in the rectus abdominus muscle of patients with and without pelvic organ prolapse. Am J Obstet Gynecol 198:220–227PubMedCrossRef

30.

Yamamoto K, Yamamoto M, Akazawa K, Tajima S, Wakimoto H, Aoyagi M (1997) Decrease in elastin gene expression and protein synthesis in fibroblasts derived from cardinal ligaments of patients with prolapsus uteri. Cell Biol Int 21:605–611PubMedCrossRef

Titel: COL3A1 2209G>A is a predictor of pelvic organ prolapse
verfasst von: Kirsten B. Kluivers
Jeroen R. Dijkstra
Jan C. M. Hendriks
Sabrina L. Lince
Mark E. Vierhout
Léon C. L. van Kempen
Publikationsdatum: 01.09.2009
Verlag: Springer-Verlag
Erschienen in: International Urogynecology Journal / Ausgabe 9/2009
Print ISSN: 0937-3462
Elektronische ISSN: 1433-3023
DOI: https://doi.org/10.1007/s00192-009-0913-y

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COL3A1 2209G>A is a predictor of pelvic organ prolapse

Abstract

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Methods

Results

Conclusions

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Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Abstract

Introduction and hypothesis

Methods

Results

Conclusions

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