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保留DNA样本以供未来基因研究的女性中的样本偏差。

Sample bias among women with retained DNA samples for future genetic studies.

作者信息

Aagaard-Tillery Kjersti, Sibai Baha, Spong Catherine Y, Momirova Valerija, Wendel George, Wenstrom Katharine, Samuels Philip, Cotroneo Margaret, Moawad Atef, Sorokin Yoram, Miodovnik Menachem, Meis Paul, O'Sullivan Mary J, Conway Deborah, Wapner Ronald J

机构信息

Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.

出版信息

Obstet Gynecol. 2006 Nov;108(5):1115-20. doi: 10.1097/01.AOG.0000241536.19539.14.

DOI:10.1097/01.AOG.0000241536.19539.14
PMID:17077232
Abstract

OBJECTIVE

To evaluate whether women who agree to future use of their biologic specimens for genetic studies reflect the larger study population from which they are derived.

METHODS

Women were questioned as to the future disposition of their maternal and fetal DNA samples upon enrollment in a multicenter, observational study originally designed to identify factor V Leiden mutation carriers and prospectively ascertain the estimated rate of pregnancy-related venous thromboembolism and adverse pregnancy outcome. Univariate and multivariate analyses was carried out on the 5,003 of 5,188 enrolled women who indicated their desire regarding future disposition of their DNA samples.

RESULTS

Among these 5,003 women, 20.1% desired that their samples be discarded and not available for future genetic studies. Multivariate analysis demonstrated that women who agreed to subsequent use of samples were less likely African-American (odds ratio [OR] 0.6, 95% confidence interval [CI] 0.4-0.7) or Hispanic (OR 0.4, 95% CI 0.3-0.5), and more likely to use tobacco (OR 1.2, 95% CI 1.0-1.6) than those who desired that their samples be discarded.

CONCLUSION

Genetic samples from women agreeing to their use in a sample repository may not be representative of the index study cohort. This should be considered in their subsequent interpretation and generalizability.

LEVEL OF EVIDENCE

III.

摘要

目的

评估同意未来将其生物样本用于基因研究的女性是否能代表她们所来自的更大的研究人群。

方法

在一项多中心观察性研究中,当女性入组时,询问她们关于其母胎DNA样本的未来处置情况。该研究最初旨在识别因子V莱顿突变携带者,并前瞻性地确定妊娠相关静脉血栓栓塞和不良妊娠结局的估计发生率。对5188名入组女性中表明了对其DNA样本未来处置意愿的5003名女性进行单因素和多因素分析。

结果

在这5003名女性中,20.1%希望丢弃其样本,使其不能用于未来的基因研究。多因素分析表明,与希望丢弃样本的女性相比,同意后续使用样本的女性更不可能是非裔美国人(优势比[OR]0.6,95%置信区间[CI]0.4 - 0.7)或西班牙裔(OR 0.4,95% CI 0.3 - 0.5),且更有可能吸烟(OR 1.2,95% CI 1.0 - 1.6)。

结论

同意将其基因样本用于样本库的女性的基因样本可能不代表指数研究队列。在后续的解释和可推广性方面应考虑到这一点。

证据水平

III级。

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