Slattery Martha L, Herrick Jennifer, Wolff Roger K, Caan Bette J, Potter John D, Sweeney Carol
Department of Medicine, University of Utah, 375 Chipeta Way, Salt Lake City, UT 84108, USA.
Cancer Epidemiol Biomarkers Prev. 2007 Dec;16(12):2752-5. doi: 10.1158/1055-9965.EPI-07-2611.
Studies suggest that polymorphisms of the vitamin D receptor (VDR) gene may influence colorectal cancer risk. In this study, we examine the association of the CDX2 VDR polymorphism (rs11568820) located in the 5'-untranslated region of the gene, and VDR haplotypes, including this polymorphism, with colon and rectal cancer using data from two large case-control studies of colon (N = 1,574 cases and 1,970 controls) and rectal (n = 791 cases and 999 controls) cancer. The frequency of the A allele of the CDX2 polymorphism was 19% among non-Hispanic white, 21% among Hispanic, 76% among African American, and 47% among Asian controls. The CDX2 polymorphism was not independently associated with either colon or rectal cancer, nor did it modify associations of dietary calcium, vitamin D, or fat with colon or rectal cancer. However, the bLFA haplotype which occurred in 6.5% of non-Hispanic white participants and 41.2% of African American participants was associated with an increased risk of colon cancer, and an odds ratio of 2.4 [95% confidence intervals (CI), 2.45 (1.38-4.38)]. The BSfG haplotype was associated with a 1.61 (95% CI, 1.05-2.49) increased risk of rectal but not colon cancer, whereas the BSFA haplotype was associated with a significantly reduced risk of rectal (odds ratio, 0.71; 95% CI, 0.52-0.97) but not colon cancer. These data suggest that haplotype analysis that encompasses different domains of the VDR gene might further our understanding of associations between the VDR gene and colon and rectal cancer.
研究表明，维生素D受体（VDR）基因的多态性可能会影响患结直肠癌的风险。在本研究中，我们利用两项关于结肠癌（N = 1574例病例和1970例对照）和直肠癌（n = 791例病例和999例对照）的大型病例对照研究数据，研究了位于该基因5'非翻译区的CDX2 VDR多态性（rs11568820）以及包含该多态性的VDR单倍型与结肠癌和直肠癌的关联。在非西班牙裔白人对照中，CDX2多态性的A等位基因频率为19%，在西班牙裔中为21%，在非裔美国人中为76%，在亚裔对照中为47%。CDX2多态性与结肠癌或直肠癌均无独立关联，也未改变膳食钙、维生素D或脂肪与结肠癌或直肠癌的关联。然而，在6.5%的非西班牙裔白人参与者和41.2%的非裔美国人参与者中出现的bLFA单倍型与结肠癌风险增加相关，优势比为2.4 [95%置信区间（CI），2.45（1.38 - 4.38）]。BSfG单倍型与直肠癌风险增加1.61（95% CI，1.05 - 2.49）相关，但与结肠癌无关，而BSFA单倍型与直肠癌风险显著降低（优势比，0.71；95% CI，0.52 - 0.97）相关，但与结肠癌无关。这些数据表明，涵盖VDR基因不同结构域的单倍型分析可能会加深我们对VDR基因与结肠癌和直肠癌之间关联的理解。
