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杜阿尔特半乳糖-1-磷酸尿苷酰转移酶基因型与卵巢癌风险无关。

Duarte galactose-1-phosphate uridyl transferase genotypes are not associated with ovarian cancer risk.

机构信息

Department of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA.

出版信息

Fertil Steril. 2012 Sep;98(3):687-91. doi: 10.1016/j.fertnstert.2012.05.045. Epub 2012 Jun 29.

Abstract

OBJECTIVE

To investigate whether galactose-1-phosphate uridyl transferase (GALT) variant genotypes were associated with epithelial ovarian cancer risk, and to determine if this association was modified by lactose intake.

DESIGN

Two prospective cohort studies and a case-control study.

SETTING

Academic institution.

PATIENT(S): A total of 992 cases and 1,050 population-based control samples from a New England case-control study and 240 cases and 900 control samples from the Nurses' Health Studies.

INTERVENTION(S): None.

MAIN OUTCOME MEASURE(S): Genotyping of the N314D variant and the 4-bp deletion (-119delGTCA) of GALT with the use of the Taqman 5' nuclease assay. Duarte1 (D1) genotype individuals have a missense mutation (N314D) associated with normal GALT activity unless it occurs together with an associated 4-bp deletion leading to reduced GALT activity (Duarte2 or D2).

RESULT(S): Logistic regression analysis identified no association between D1/D2 genotypes and ovarian cancer risk (pooled risk ratio 1.1 [95% confidence interval (CI) 0.8-1.5] for D1 and 1.0 [95% CI 0.7-1.4] for D2). We did not observe a significant interaction between D1 and D2 genotypes in analyses stratified by level of lactose intake.

CONCLUSION(S): D1 and D2 genotypes do not appear to play a role in the association between galactose intake, possible ovarian dysfunction, and the link with ovarian cancer.

摘要

目的

研究半乳糖-1-磷酸尿苷酰转移酶(GALT)变异基因型是否与上皮性卵巢癌风险相关,并确定这种关联是否受乳糖摄入的影响。

设计

两项前瞻性队列研究和一项病例对照研究。

设置

学术机构。

患者

新英格兰病例对照研究共纳入 992 例病例和 1050 例基于人群的对照样本,护士健康研究共纳入 240 例病例和 900 例对照样本。

干预

无。

主要观察指标

使用 Taqman 5' 核酸酶检测法对半乳糖-1-磷酸尿苷酰转移酶 N314D 变异和 4-bp 缺失(-119delGTCA)的 D1/N314D 基因型和 D2/4-bp 缺失基因型进行基因分型。D1 基因型个体发生 N314D 错义突变(与正常 GALT 活性相关),除非与相关的 4-bp 缺失(导致 GALT 活性降低的 D2 基因型)同时发生。

结果

逻辑回归分析未发现 D1/D2 基因型与卵巢癌风险之间存在关联(D1 基因型的汇总风险比为 1.1 [95%置信区间 0.8-1.5],D2 基因型为 1.0 [95%置信区间 0.7-1.4])。我们未发现 D1 和 D2 基因型在按乳糖摄入量分层的分析中存在显著的交互作用。

结论

D1 和 D2 基因型似乎与半乳糖摄入、可能的卵巢功能障碍以及与卵巢癌的联系无关。

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本文引用的文献

1
Ovarian function in girls and women with GALT-deficiency galactosemia.GALT 缺乏性半乳糖血症女孩和女性的卵巢功能。
J Inherit Metab Dis. 2011 Apr;34(2):357-66. doi: 10.1007/s10545-010-9221-4. Epub 2010 Oct 27.
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Dairy products and ovarian cancer: a pooled analysis of 12 cohort studies.乳制品与卵巢癌:12项队列研究的汇总分析
Cancer Epidemiol Biomarkers Prev. 2006 Feb;15(2):364-72. doi: 10.1158/1055-9965.EPI-05-0484.

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