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哥伦比亚女性中遗传背景与常见乳腺癌易感性变异体的相互作用。

Interaction between genetic ancestry and common breast cancer susceptibility variants in Colombian women.

机构信息

Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia.

出版信息

Int J Cancer. 2019 May 1;144(9):2181-2191. doi: 10.1002/ijc.32023. Epub 2019 Jan 5.

Abstract

Latino women show lower incidences of breast cancer (BC) than non-Hispanic whites. Large-scale genetic association studies have identified variants robustly associated with BC risk in European women. We examine here the relevance of these variants to Colombian BC and possible interactions with genetic ancestry. Native American, European and African proportions were estimated for 1022 Colombian BC cases and 1023 controls. Logistic regression was applied to assess the association between 78 variants and BC risk and interactions between the variants and ancestry proportions. We constructed a multifactorial risk score combining established BC risk factors, associated risk variants and individual ancestry proportions. Each 1% increase in the Native American proportion translated into a 2.2% lower BC risk (95% CI: 1.4-2.9). Thirteen variants were associated with BC in Colombian women, with allele frequencies and risk effects partially different from European women. Ancestry proportions moderated the risk effects of two variants. The ability of Native American proportions to separate Colombian cases and controls (area-under-the-curve (AUC) = 0.61) was similar to the discriminative ability of family history of BC in first-degree female relatives (AUC = 0.58) or the combined effect of all 13 associated risk variants (AUC = 0.57). Our findings demonstrate ample potential for individualized BC prevention in Hispanic women taking advantage of individual Native American proportions, information on established susceptibility factors and recently identified common risk variants.

摘要

拉丁裔女性的乳腺癌(BC)发病率低于非西班牙裔白人。大规模的遗传关联研究已经确定了与欧洲女性 BC 风险密切相关的变体。我们在这里研究这些变体与哥伦比亚 BC 的相关性以及与遗传背景的可能相互作用。对 1022 名哥伦比亚 BC 病例和 1023 名对照的 10 种美洲原住民、欧洲和非洲比例进行了估计。应用逻辑回归评估了 78 个变体与 BC 风险之间的关联以及变体与遗传背景比例之间的相互作用。我们构建了一个多因素风险评分,将已建立的 BC 风险因素、相关风险变体和个体遗传背景比例结合起来。美洲原住民比例每增加 1%,BC 风险就降低 2.2%(95%CI:1.4-2.9)。有 13 个变体与哥伦比亚女性的 BC 相关,其等位基因频率和风险效应部分与欧洲女性不同。遗传背景比例调节了两个变体的风险效应。美洲原住民比例区分哥伦比亚病例和对照的能力(曲线下面积(AUC)=0.61)与一级女性亲属的 BC 家族史(AUC=0.58)或所有 13 个相关风险变体的综合效应(AUC=0.57)相当。我们的研究结果表明,充分利用个体美洲原住民比例、已确定的易感性因素和最近确定的常见风险变体,为西班牙裔女性提供了个性化 BC 预防的巨大潜力。

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