非裔美国人优势单核苷酸多态性（SNPs）与乳腺癌风险
African American-preponderant single nucleotide polymorphisms (SNPs) and risk of breast cancer.
作者信息
Kato Ikuko, Cichon Michelle, Yee Cecilia L, Land Susan, Korczak Jeannette F
机构信息
Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA.
出版信息
Cancer Epidemiol. 2009 Jul;33(1):24-30. doi: 10.1016/j.canep.2009.04.009. Epub 2009 May 14.
BACKGROUND
African American women more often present with more aggressive types of breast cancer than Caucasian women, but little is known whether genetic polymorphisms specific to or disproportionate in African Americans are associated with their risk of breast cancer.
METHODS
A population-based case-control study was conducted including 194 cases identified through the Metropolitan Detroit Cancer Surveillance System and 189 controls recruited through random digit dialing to examine polymorphisms in genes involved in estrogen metabolism and action.
RESULTS
The African American-specific CYP1A1 5639C allele was associated with an increased risk of breast cancer (odds ratio (OR)=2.34, 95% confidence interval (CI) 1.23-4.44) and this association with the CYP1A1 5639 locus was dependent on another polymorphism in the CYP3A4 gene (P=0.043 for the interaction). In addition, African American-predominant CYP1B1 432 Val allele was significantly more often found in the cases than in the controls overall and the HSD17B1 312 Gly allele was specifically associated with premenopausal breast cancer risk (OR=3.00, 95%CI 1.29-6.99).
CONCLUSION
These observations need to be confirmed in larger studies due to the limited statistical power of the study based on a small number of cases.
背景
与白人女性相比，非裔美国女性更常患侵袭性更强的乳腺癌类型，但对于非裔美国人特有的或比例过高的基因多态性是否与其患乳腺癌风险相关，人们知之甚少。
方法
开展了一项基于人群的病例对照研究，纳入了通过底特律都会区癌症监测系统确定的194例病例，以及通过随机数字拨号招募的189例对照，以研究参与雌激素代谢和作用的基因中的多态性。
结果
非裔美国人特有的CYP1A₁ 5639C等位基因与乳腺癌风险增加相关（比值比（OR）=2.34，95%置信区间（CI）1.23 - 4.44），且这种与CYP1A₁ 5639位点的关联取决于CYP3A₄基因中的另一种多态性（交互作用P = 0.043）。此外，总体上病例中CYP1B₁ 432 Val等位基因在非裔美国人中占主导地位，显著多于对照组，且HSD17B₁ 312 Gly等位基因与绝经前乳腺癌风险特别相关（OR = 3.00，95%CI 1.29 - 6.99）。
结论
由于该研究基于少量病例，统计效力有限，这些观察结果需要在更大规模的研究中得到证实。
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