与腺瘤性息肉病大肠杆菌E1317Q变体相关的结直肠肿瘤风险。

Risk of colorectal neoplasia associated with the adenomatous polyposis coli E1317Q variant.

作者信息

Hall M J, Liberman E, Dulkart O, Galazan L, Sagiv E, Shmueli E, Kazanov D, Hallak A, Moshkowitz M, Figer A, Kraus S, Inbar M, Neugut A I, Arber N

机构信息

Departments of Medicine and Epidemiology, College of Physicians and Surgeons, and the Mailman School of Public Health, Columbia University, New York, NY, USA.

Integrated Cancer Prevention Center, Tel-Aviv Sourasky Medical Center; Department of Sackler Faculty of Medicine.

出版信息

Ann Oncol. 2009 Sep;20(9):1517-1521. doi: 10.1093/annonc/mdp023. Epub 2009 May 27.

DOI:10.1093/annonc/mdp023

PMID:19474113

Abstract

BACKGROUND

Reports of the risk of colorectal neoplasia associated with a variant of the adenomatous polyposis coli (APC E1317Q) gene are conflicting. Using a case-control design, we investigated this relationship within a clinic-based cohort followed through the Integrated Cancer Prevention Center and the Tel-Aviv Sourasky Medical Center.

MATERIALS AND METHODS

All study subjects were tested for the APC E1317Q variant at enrollment. Subjects underwent colonoscopic evaluation (+/-biopsy and/or polypectomy) and had cancer history and colorectal neoplasia risk factors assessed. The crude and adjusted risks of neoplasia associated with the E1317Q variant were calculated.

RESULTS

The prevalence of the E1317Q variant was 1.4% in the entire study sample and 3.2% in Sephardic Jews. E1317Q was more prevalent among cases: 15 of 458 (3.3%) cases were carriers compared with 11 of 1431 (0.8%) controls [odds ratio (OR) 4.4, 95% CI 2.0-9.6]. When stratified by neoplasia type, adenoma risk was significantly elevated in carriers (OR 4.1, 95% CI 1.8-9.4) but colorectal cancer risk was not (OR 2.1, 95% CI 0.8-5.3). After adjustment, the E1317Q variant remained a significant predictor of colorectal adenoma (OR 4.6, 95% CI 2.0-10.8).

CONCLUSIONS

The APC E1317Q variant is associated with colorectal neoplasia, particularly colorectal adenomas, but further studies are still needed. Variant prevalence is elevated in Sephardic Jews.

摘要

背景

关于腺瘤性息肉病 coli（APC E1317Q）基因变体与结直肠肿瘤风险的报告相互矛盾。我们采用病例对照设计，在通过综合癌症预防中心和特拉维夫索拉斯基医疗中心随访的基于诊所的队列中研究了这种关系。

材料与方法

所有研究对象在入组时均检测了 APC E1317Q 变体。受试者接受结肠镜检查（±活检和/或息肉切除术），并评估癌症病史和结直肠肿瘤风险因素。计算与 E1317Q 变体相关的肿瘤的粗风险和调整后风险。

结果

E1317Q 变体在整个研究样本中的患病率为 1.4%，在西班牙裔犹太人中为 3.2%。E1317Q 在病例中更为普遍：458 例病例中有 15 例（3.3%）为携带者，而 1431 例对照中有 11 例（0.8%）为携带者[优势比（OR）4.4，95%可信区间 2.0 - 9.6]。按肿瘤类型分层时，携带者的腺瘤风险显著升高（OR 4.1，95%可信区间 1.8 - 9.4），但结直肠癌风险未升高（OR 2.1，95%可信区间 0.8 - 5.3）。调整后，E1317Q 变体仍然是结直肠腺瘤的显著预测因子（OR 4.6，95%可信区间 2.0 - 10.8）。