Chen HY, Chung YW, Lin WY, et al. Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse
ABSTRACT To investigate whether pelvic organ prolapse (POP) is associated with collagen 3 alpha 1 (COL3A1) polymorphisms and other factors.
A case-control association study was conducted with 84 women affected with POP and 147 controls. The genotypes of nucleotides COL3A1 rs1800255 and COL3A1 rs1801184 polymorphisms were ascertained by polymerase chain reaction and restriction fragment length polymorphism analysis.
The distribution of the COL3A1 rs1800255 genotypes was significantly different among affected women and controls. Older age and incidence of COL3A1 rs1800255 genotype AA were significantly associated with risk of POP.
There may be an association between COL3A1 genotype and risk of POP.
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- "However, not all studies find the same associations. Jeon et al.  found that the GG genotype of the collagen, type III , alpha 1 (COL3A1) polymorphism was significantly more prevalent among Korean women with POP, whereas both Kluivers et al.  and Chen et al.  concluded that the AA genotype was significantly associated with POP in Caucasian and Taiwanese females, respectively. On the other hand, Martins et al.  found no correlation between the COL3A1 polymorphism and POP in their population. "
ABSTRACT: There is growing evidence that pelvic organ prolapse (POP) is at least partly caused by underlying hereditary risk factors. The aim of our study was to provide a systematic literature review and meta-analysis of clinical studies on family history of POP as a risk factor for POP in individual women. The databases PubMed and Embase were searched. Clinical studies reporting on family history of POP in relation to POP in individual women were included. Sixteen studies were included, of which eight enabled us to calculate a pooled odds ratio (OR). The pooled OR of POP in case of a positive family history of POP was 2.58 (95 % confidence interval 2.12-3.15). Women with POP are substantially more likely to have family members with the same condition compared to women without POP. This strengthens the hypothesis that genetic predisposition plays an important role in the development of POP.International Urogynecology Journal 03/2012; 23(10):1327-36. DOI:10.1007/s00192-012-1704-4 · 2.16 Impact Factor
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ABSTRACT: Genetic studies require a clearly defined phenotype to reach valid conclusions. Our aim was to characterize the phenotype of advanced prolapse by comparing women with stage III to IV prolapse with controls without prolapse. Based on the pelvic organ prolapse quantification examination, women with stage 0 to stage I prolapse (controls) and those with stage III to stage IV prolapse (cases) were prospectively recruited as part of a genetic epidemiologic study. Data regarding sociodemographics; medical, obstetric, and surgical history; family history; and body mass index were obtained by a questionnaire administered by a trained coordinator and abstracted from electronic medical records. There were 275 case patients with advanced prolapse and 206 controls with stage 0 to stage I prolapse. Based on our recruitment strategy, the women were younger than the controls (64.7 ± 10.1 vs 68.6 ± 10.4 years; P<0.001); cases were also more likely to have had one or more vaginal deliveries (96.0% vs 82.0%; P<0.001). There were no differences in race, body mass index, and constipation. Regarding family history, cases were more likely to report that either their mother and/or sister(s) had prolapse (44.8% vs 16.9%, P<0.001). In a logistic regression model, vaginal parity (odds ratio, 4.05; 95% confidence interval, 1.67-9.85) and family history of prolapse (odds ratio, 3.74; 95% confidence interval, 2.16-6.46) remained significantly associated with advanced prolapse. Vaginal parity and a family history of prolapse are more common in women with advanced prolapse compared to those without prolapse. These characteristics are important in phenotyping advanced prolapse, suggesting that these data should be collected in future genetic epidemiologic studies.Journal of Pelvic Medicine and Surgery 01/2012; 18(5):299-302. DOI:10.1097/SPV.0b013e31826a53de
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ABSTRACT: Pelvic organ prolapse (POP) is a prevalent and disabling condition. The pathophysiology of prolapse is multifactorial, and no single mechanism adequately explains all aspects of its development. The pathophysiology of POP is complex and incompletely understood. Smooth muscle (SM), an integral part of the vaginal wall and endopelvic structures that support the pelvic viscera, has also been implicated in the pathophysiology of POP. In this article, we review the role of smooth muscle cells (SMC) in the pathophysiology of POP, also addressing the anatomy of SM in pelvic floor, morphometric analysis, biomechanical properties, and potential mechanisms.Journal of Pelvic Medicine and Surgery 01/2013; 19(5):254-9. DOI:10.1097/SPV.0b013e31829ff74d