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Identification of six loci associated with pelvic organ prolapse using genome-wide association analysis.利用全基因组关联分析鉴定与盆腔器官脱垂相关的六个基因座。
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Pelvic organ prolapse and collagen-associated disorders.盆腔器官脱垂与胶原相关疾病
Int Urogynecol J. 2012 Mar;23(3):313-9. doi: 10.1007/s00192-011-1532-y. Epub 2011 Aug 3.
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Little genetic differentiation as assessed by uniparental markers in the presence of substantial language variation in peoples of the Cross River region of Nigeria.在尼日利亚十字河地区人群中存在大量语言变异的情况下,通过单系标记评估的遗传分化很小。
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Matrix metalloproteinase-9 polymorphism and risk of pelvic organ prolapse in Taiwanese women.基质金属蛋白酶-9 多态性与台湾女性盆腔器官脱垂风险的关系。
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描述晚期盆腔器官脱垂的表型。

Characterizing the phenotype of advanced pelvic organ prolapse.

作者信息

Levin Pamela J, Visco Anthony G, Shah Svati H, Fulton Rebekah G, Wu Jennifer M

机构信息

Division of Urogynecology, Department of Obstetrics and Gynecology, Duke University, Durham, NC 27707, USA.

出版信息

Female Pelvic Med Reconstr Surg. 2012 Sep-Oct;18(5):299-302. doi: 10.1097/SPV.0b013e31826a53de.

DOI:10.1097/SPV.0b013e31826a53de
PMID:22983275
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3505456/
Abstract

OBJECTIVE

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.

METHODS

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.

RESULTS

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.

CONCLUSIONS

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.

摘要

目的

基因研究需要明确界定的表型才能得出有效的结论。我们的目的是通过比较III至IV期脱垂的女性与无脱垂的对照者来描述重度脱垂的表型。

方法

基于盆腔器官脱垂定量检查,前瞻性招募0至I期脱垂的女性(对照者)和III至IV期脱垂的女性(病例组),作为一项基因流行病学研究的一部分。有关社会人口统计学、医疗、产科和手术史、家族史以及体重指数的数据,通过由经过培训的协调员发放的问卷获得,并从电子病历中提取。

结果

有275例重度脱垂患者和206例0至I期脱垂的对照者。根据我们的招募策略,病例组女性比对照组年轻(64.7±10.1岁对68.6±10.4岁;P<0.001);病例组也更有可能有过一次或多次阴道分娩(96.0%对82.0%;P<0.001)。种族、体重指数和便秘方面无差异。关于家族史,病例组更有可能报告其母亲和/或姐妹有脱垂(44.8%对16.9%,P<0.001)。在逻辑回归模型中,阴道分娩次数(比值比,4.05;95%置信区间,1.67 - 9.85)和脱垂家族史(比值比,3.74;95%置信区间,2.16 - 6.46)仍与重度脱垂显著相关。

结论

与无脱垂的女性相比,阴道分娩次数和脱垂家族史在重度脱垂女性中更为常见。这些特征在重度脱垂的表型分析中很重要,表明这些数据应在未来的基因流行病学研究中收集。