Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk: a case control study.
Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk: a case control study.
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DOI：
10.1186/bcr811
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发表时间：
2004
期刊：
影响因子：
--
通讯作者：
Weiderpass E
中科院分区：
文献类型：
--
作者：
Wedrén S;Lovmar L;Humphreys K;Magnusson C;Melhus H;Syvänen AC;Kindmark A;Landegren U;Fermér ML;Stiger F;Persson I;Baron J;Weiderpass E
雌激素受体α介导雌激素在靶组织中的作用，具有遗传多态性。由于乳腺癌的发展依赖于雌激素的影响，我们研究了雌激素受体α基因（ESR1）的多态性是否与乳腺癌风险相关。我们对乳腺癌病例和年龄匹配的人群对照进行了ESR1中一个微卫星标记和四个单核苷酸多态性（snp）的基因分型。各标记基因型病例数和对照数分别为：1例，1514例和1514例对照；c.454-397C→T， 1557例，对照1512例；c.454-351A→G， 1556例和1512例对照；c.729C→T， 1562例，对照组1513例；c.975C→G， 1562例，对照1513例。使用逻辑回归模型，我们计算了优势比（ORs）和95%置信区间（ci）。单倍型效应在探索性分析中估计，对病例对照研究数据使用期望最大化算法。单多态性位点与乳腺癌风险之间没有令人信服的联系。在单倍型分析中，c.454-351A→G或c.454-397C→T和c.975C→G单倍型的常见单倍型似乎与导管性乳腺癌的风险增加有关：在倍增外显率模型下，c.454-351A→G和c.975C→G单倍型的一个拷贝与无拷贝相比，or为1.19 (95% CI 1.06-1.33)， or为1.42 （95% CI 1.15-1.77）。与c.454-397C→T和c.975C→G单倍型的关联相似。我们的数据表明，这些单倍型对身体质量指数高的女性影响更大。对多重比较进行调整后，这些关联在统计学上不显著。我们发现ESR1的常见单倍型与导管性乳腺癌的风险之间存在关联，这种关联在体重较大的女性中更为明显。
Oestrogen receptor α, which mediates the effect of oestrogen in target tissues, is genetically polymorphic. Because breast cancer development is dependent on oestrogenic influence, we have investigated whether polymorphisms in the oestrogen receptor α gene (ESR1) are associated with breast cancer risk. We genotyped breast cancer cases and age-matched population controls for one microsatellite marker and four single-nucleotide polymorphisms (SNPs) in ESR1. The numbers of genotyped cases and controls for each marker were as follows: TAn, 1514 cases and 1514 controls; c.454-397C → T, 1557 cases and 1512 controls; c.454-351A → G, 1556 cases and 1512 controls; c.729C → T, 1562 cases and 1513 controls; c.975C → G, 1562 cases and 1513 controls. Using logistic regression models, we calculated odds ratios (ORs) and 95% confidence intervals (CIs). Haplotype effects were estimated in an exploratory analysis, using expectation-maximisation algorithms for case-control study data. There were no compelling associations between single polymorphic loci and breast cancer risk. In haplotype analyses, a common haplotype of the c.454-351A → G or c.454-397C → T and c.975C → G SNPs appeared to be associated with an increased risk for ductal breast cancer: one copy of the c.454-351A → G and c.975C → G haplotype entailed an OR of 1.19 (95% CI 1.06–1.33) and two copies with an OR of 1.42 (95% CI 1.15–1.77), compared with no copies, under a model of multiplicative penetrance. The association with the c.454-397C → T and c.975C → G haplotypes was similar. Our data indicated that these haplotypes were more influential in women with a high body mass index. Adjustment for multiple comparisons rendered the associations statistically non-significant. We found suggestions of an association between common haplotypes in ESR1 and the risk for ductal breast cancer that is stronger in heavy women.
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影响因子：
4.4
作者：
DEVLIN, B;RISCH, N
通讯作者：
RISCH, N
影响因子：
7
作者：
Majewski, J;Ott, J
通讯作者：
Ott, J
DOI：
10.1016/0960-0760(92)90214-4
发表时间：
1992-09-01
影响因子：
4.1
作者：
MCGUIRE, WL;CHAMNESS, GC;FUQUA, SAW
通讯作者：
FUQUA, SAW
影响因子：
30.8
作者：
Enattah, NS;Sahi, T;Järvelä, I
通讯作者：
Järvelä, I
影响因子：
4.1
作者：
Lau, EMC;Young, RP;Woo, J
通讯作者：
Woo, J