Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, 1954 Huashan Road, Shanghai 200030, China.
Clin Biochem. 2012 Dec;45(18):1669-72. doi: 10.1016/j.clinbiochem.2012.07.001. Epub 2012 Jul 13.
Colorectal cancer (CRC) is a common malignancy with worldwide prevalence. Familial adenomatous polyposis (FAP), a predisposition syndrome of CRC, is caused by germ line mutations in the APC gene. Mutations in APC are thought to be an early event in colorectal tumorigenesis. We hypothesized that common variants in APC might be associated with CRC.
A case-control study genotyping ten SNPs was conducted in 312 CRC patients and 270 normal controls in the Chinese Han population.
The genotype frequency of rs2019720 showed a significant difference between cases and controls (p=0.046, after Bonferroni correction). For the three pairs of SNPs in strong LD, we carried out haplotype analyses but no significant association was detected.
Our results suggest that APC polymorphisms might be associated with CRC in the Chinese Han population.
结直肠癌（CRC）是一种常见的恶性肿瘤，在全球范围内普遍存在。家族性腺瘤性息肉病（FAP）是 CRC 的一种易患综合征，由 APC 基因的种系突变引起。APC 突变被认为是结直肠肿瘤发生的早期事件。我们假设 APC 中的常见变异可能与 CRC 相关。
在中国汉族人群中，对 312 例 CRC 患者和 270 例正常对照进行了一项病例对照研究，对 10 个 SNP 进行基因分型。
rs2019720 的基因型频率在病例组和对照组之间存在显著差异（p=0.046，经 Bonferroni 校正）。对于三对强连锁的 SNP，我们进行了单倍型分析，但未检测到显著关联。
我们的结果表明，APC 多态性可能与中国汉族人群的 CRC 相关。
