Department of Gastroenterology and Endocrinology, The 263th Clinical Department, Chinese PLA General Hospital, Beijing 101149, China.
Department of Gastroenterology and Endocrinology, The 263th Clinical Department, Chinese PLA General Hospital, Beijing 101149, China.
Gene. 2020 May 25;740:144486. doi: 10.1016/j.gene.2020.144486. Epub 2020 Feb 19.
The purpose of this study was to investigate the function of APC polymorphisms (D1822V and E1317Q) on the transition from polyps to colorectal cancer (CRC).
259 patients with polyps were included in the study. APC polymorphisms were genotyped via polymerase chain reaction (PCR) and subsequent sequencing. χ test was performed to analyze the relationship of APC polymorphisms or CRC occurrence with clinical features. COX regression was used to find out risk factors for CRC. Hazard ratio (HR) and 95% confidence interval (CI) represented the risk of CRC.
Clinical information on sex, regular physical activity, smoking history, alcohol use and polyps types was recorded. Neither D1822V nor E1317Q polymorphism was associated with these factors. In following analysis, we found significant difference in the frequency of males between CRC and non-CRC patients (87.4% vs. 58.7%, P < 0.001). Distinct difference in the distribution of D1822V polymorphism was also observed between CRC and non-CRC patients (P = 0.001). In COX analysis, sex was identified as a risk factor for transition from polyps to CRC (HR = 2.442, 95%CI = 1.281-4.654). D1822V polymorphism tended to inhibit the transition process (HR = 0.286, 95%CI = 0.170-0.480). However, E1317Q seemed to have no significant effect on this process (HR = 1.042, 95%CI = 0.676-1.606).
In a word, APC D1822V polymorphism has strong effect on the transition from polyps to CRC.
本研究旨在探讨 APC 多态性（D1822V 和 E1317Q）在息肉向结直肠癌（CRC）转化中的作用。
本研究纳入了 259 例息肉患者。通过聚合酶链反应（PCR）和后续测序对 APC 多态性进行基因分型。采用卡方检验分析 APC 多态性或 CRC 发生与临床特征的关系。采用 COX 回归寻找 CRC 的危险因素。风险比（HR）和 95%置信区间（CI）表示 CRC 的风险。
记录了性别、规律体育活动、吸烟史、饮酒史和息肉类型等临床信息。D1822V 或 E1317Q 多态性与这些因素均无关联。在后续分析中，我们发现 CRC 患者和非 CRC 患者中男性的频率存在显著差异（87.4%比 58.7%，P<0.001）。CRC 患者和非 CRC 患者中 D1822V 多态性的分布也存在明显差异（P=0.001）。COX 分析显示，性别是息肉向 CRC 转化的危险因素（HR=2.442，95%CI=1.281-4.654）。D1822V 多态性倾向于抑制转化过程（HR=0.286，95%CI=0.170-0.480）。然而，E1317Q 似乎对这个过程没有显著影响（HR=1.042，95%CI=0.676-1.606）。
总之，APC D1822V 多态性对息肉向 CRC 的转化有很强的影响。
