Genetics of pelvic organ prolapse; identification of specific gene defects in patients and their family members.

Type III collagen is of special importance in tissue repair following mechanical stretch such as in delivery or pelvic organ prolapse (POP). Type III collagen polymorphisms may therefore result in a decrease in tissue repair and may lead to impaired tensile strength of ligaments and supportive tissues. Chen and co-workers have suggested that a COL3A1 polymorphism in exon 30 was related to POP in Taiwanese women. Our research group recently confirmed this finding in a larger population of 202 Dutch POP patients and 102 parous controls. The odds ratio for the presence of POP in a woman with this homozygous COL3A1 polymorphism is 5.0 (95% confidence interval 1.4; 17.1).



Our hypothesis is that the COL3A1 polymorphism is a inheritable genetic defect, responsible for increased familial susceptibility to pelvic organ prolapse and other collagen-mediated diseases.

The COL3A1 polymorphism is a inheritable genetic defect, responsible for the increased susceptibility to pelvic organ prolapse in women.

1. A blood sample of all subjects will be used for the detection of the COL3A1 polymorphism by means of PCR followed by RFLP analysis;

2. Prolapse will be assessed by gynaecological investigation of female subjects to complete the POP-Q;

3. Other related conditions will be evaluated by means of a qestionnaire.

None.