The cyclooxygenase-2 (PTGS2) 8473T⟩C polymorphism is associated with breast cancer risk
The cyclooxygenase-2 (PTGS2) 8473T⟩C polymorphism is associated with breast cancer risk
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DOI：
10.1158/1078-0432.ccr-05-2055
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发表时间：
2006-02-15
影响因子：
11.5
通讯作者：
Krippl, P
中科院分区：
文献类型：
--
作者：
Langsenlehner, U;Yazdani-Biuki, B;Krippl, P
环氧合酶-2 (COX-2) 参与癌变、免疫反应抑制、细胞凋亡抑制、血管生成以及肿瘤细胞侵袭和转移。 COX-2 基因被命名为 PTGS2，在 3'-非翻译区的 8473 位具有常见的多态性 (PTGS2 8473T>C)，这与恶性疾病的易感性有关。为了研究这种多态性对乳腺癌的作用，我们确定了 500 名乳腺癌女性和 500 名性别和年龄匹配的健康对照受试者中 PTGS2 基因型的患病率。 8473-CC 基因型纯合子携带者在患者中（12.4%）比对照组（6.6%；P = 0.002）更常见。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 (63.9%) 的雌激素受体阳性率低于 aTT 或 TC 基因型携带者 (76.9%；P = 0.028)。肿瘤大小、组织学分级、原发淋巴结转移的存在、孕激素受体阳性或诊断时的年龄与 PTGS2 基因型无关。我们得出结论，纯合 PTGS2 8473-CC 基因型可能与乳腺癌风险相关。
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 aTT 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.