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环氧化酶-2(PTGS2)8473T>C多态性与乳腺癌风险相关。

The cyclooxygenase-2 (PTGS2) 8473T>C polymorphism is associated with breast cancer risk.

作者信息

Langsenlehner Uwe, Yazdani-Biuki Babak, Eder Tanja, Renner Wilfried, Wascher Thomas C, Paulweber Bernhard, Weitzer Werner, Samonigg Hellmut, Krippl Peter

机构信息

Department of Internal Medicine, Medical University of Graz, Graz, Austria.

出版信息

Clin Cancer Res. 2006 Feb 15;12(4):1392-4. doi: 10.1158/1078-0432.CCR-05-2055.

DOI:10.1158/1078-0432.CCR-05-2055
PMID:16489098
Abstract

Cyclooxygenase-2 (COX-2) is involved in carcinogenesis, immune response suppression, apoptosis inhibition, angiogenesis, and tumor cell invasion and metastasis. The gene for COX-2, designated as PTGS2, carries a common polymorphism at position 8473 in the 3'-untranslated region (PTGS2 8473T>C), which has been associated with susceptibility to malignant disease. To investigate the role of this polymorphism for breast cancer, we determined the prevalence of PTGS2 genotypes in 500 women with breast cancer and 500 sex- and age-matched healthy control subjects. Homozygous carriers of the 8473-CC genotype were more frequent among patients (12.4%) than among controls (6.6%; P = 0.002). The odds ratio for carriers of this genotype for breast cancer was 2.1 (95% confidence interval, 1.3-3.3). Among patients, estrogen receptor positivity was less frequent among carriers of a CC genotype (63.9%) than among carriers of a TT or TC genotype (76.9%; P = 0.028). Tumor size, histologic grade, presence of primary lymph node metastases, progesterone receptor positivity, or age at diagnosis were not associated with PTGS2 genotypes. We conclude that the homozygous PTGS2 8473-CC genotype may be associated with breast cancer risk.

摘要

环氧化酶-2(COX-2)参与致癌作用、免疫反应抑制、细胞凋亡抑制、血管生成以及肿瘤细胞的侵袭和转移。COX-2基因,命名为PTGS2,在3'非翻译区的8473位存在一个常见的多态性(PTGS2 8473T>C),这与恶性疾病的易感性相关。为了研究这种多态性在乳腺癌中的作用,我们测定了500例乳腺癌女性患者以及500例年龄和性别匹配的健康对照者中PTGS2基因型的流行情况。在患者中,8473-CC基因型的纯合携带者(12.4%)比对照组(6.6%;P = 0.002)更为常见。该基因型携带者患乳腺癌的优势比为2.1(95%置信区间,1.3 - 3.3)。在患者中,CC基因型携带者的雌激素受体阳性率(63.9%)低于TT或TC基因型携带者(76.9%;P = 0.028)。肿瘤大小、组织学分级、有无原发性淋巴结转移、孕激素受体阳性情况或诊断时的年龄与PTGS2基因型无关。我们得出结论,PTGS2 8473-CC纯合基因型可能与乳腺癌风险相关。

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