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评估非洲裔美国女性的 11 个乳腺癌易感性位点。

Evaluation of 11 breast cancer susceptibility loci in African-American women.

机构信息

Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Nashville, TN 37203-1738, USA.

出版信息

Cancer Epidemiol Biomarkers Prev. 2009 Oct;18(10):2761-4. doi: 10.1158/1055-9965.EPI-09-0624. Epub 2009 Sep 29.

Abstract

Recent genome-wide association studies (GWAS) have identified multiple common genetic risk variants for breast cancer among women of Asian and European ancestry. Investigating these genetic susceptibility loci in other populations would be helpful to evaluate the generalizability of the findings and identify the causal variants for breast cancer. We evaluated 11 GWAS-identified genetic susceptibility loci for breast cancer in a study including 2,594 African-American women (810 cases and 1,784 controls). Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene), were found to be associated with breast cancer risk. Risk increased nearly linearly with the number of affected risk alleles, with a 2-fold elevated risk for women homozygous for the risk alleles in both single-nucleotide polymorphisms. No additional significant associations, however, were identified for the other nine loci evaluated in the study. The results from this study extend some of the recent GWAS findings to African-Americans and may guide future efforts to identify the causal variants for breast cancer.

摘要

最近的全基因组关联研究(GWAS)已经确定了亚洲和欧洲血统女性乳腺癌的多个常见遗传风险变异。在其他人群中研究这些遗传易感性基因座有助于评估研究结果的普遍性,并确定乳腺癌的因果变异。我们在一项包括 2594 名非裔美国女性(810 例病例和 1784 例对照)的研究中评估了 11 个 GWAS 确定的乳腺癌遗传易感性基因座。发现两个单核苷酸多态性(rs13387042 [2q35] 和 rs1219648 [FGFR2 基因])与乳腺癌风险相关。风险随受影响的风险等位基因数量几乎呈线性增加,两个单核苷酸多态性中风险等位基因纯合的女性风险增加近两倍。然而,在研究中评估的其他九个基因座未发现其他显著相关性。这项研究的结果将最近的一些 GWAS 发现扩展到非裔美国人,并可能指导未来确定乳腺癌因果变异的努力。

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Evaluation of 11 breast cancer susceptibility loci in African-American women.评估非洲裔美国女性的 11 个乳腺癌易感性位点。
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