Department of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA.
Fertil Steril. 2012 Sep;98(3):687-91. doi: 10.1016/j.fertnstert.2012.05.045. Epub 2012 Jun 29.
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.
Two prospective cohort studies and a case-control study.
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.
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。
两项前瞻性队列研究和一项病例对照研究。
学术机构。
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。
无。
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。
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。
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。