Ibrahim Tony, Yazbeck Charbel, Maalouly Georges, Baz Maria, Haddad Fady, Sabbagh Chadi, Chahine Georges
Hemato-Oncology Department, Hotel Dieu de France teaching Hospital of Saint Joseph University, 11-5076, Riad El Solh-Beirut, 1107 2180, Beirut, Lebanon,
J Gastrointest Cancer. 2014 Dec;45(4):441-7. doi: 10.1007/s12029-014-9625-8.
The role of genetic factors in colorectal cancer pathogenesis is widely accepted. Polymorphisms are actually thought to play a role in the unexplained colorectal cancer (CRC) susceptibility. There is conflicting data regarding the role of the transforming growth factor beta receptor 1 polymorphism 6A (TGFBR1*6A) in the increased incidence of CRC.
Our aim is to test the association between this polymorphism and sporadic/familial CRC in the Lebanese population paying attention to lead time bias in the control group. This is a case-control study conducted in two Lebanese hospital centers.
Cases were diagnosed with CRC during the period of 1 year prior to the study. Controls were healthy subjects aged >50 years with a history of normal colonoscopy during the period of 5 years prior to the beginning of the study. A total of 96 cases (57 sporadic/39 familial) and 97 controls were genotyped. The odds ratios for 6A carrier status was statistically significant for sporadic CRC, odds ratio (OR) = 2.314 (95 % confidence interval (CI) 1.030-5.195) but not for familial CRC.
No association was found between 6A carrier status and mean age at diagnosis of CRC. This is the first article in the literature to evaluate the association between 6A polymorphism and total, sporadic, and familial CRC in a single study with reduction of bias in the control group. Results are in conjunction with other studies and meta-analysis.
遗传因素在结直肠癌发病机制中的作用已被广泛认可。实际上，多态性被认为在不明原因的结直肠癌（CRC）易感性中起作用。关于转化生长因子β受体1多态性6A（TGFBR1*6A）在CRC发病率增加中的作用，存在相互矛盾的数据。
我们的目的是测试这种多态性与黎巴嫩人群中散发性/家族性CRC之间的关联，并关注对照组中的领先时间偏倚。这是一项在两个黎巴嫩医院中心进行的病例对照研究。
病例为在研究前1年内被诊断为CRC的患者。对照为年龄>50岁、在研究开始前5年内有正常结肠镜检查史的健康受试者。对总共96例病例（57例散发性/39例家族性）和97例对照进行基因分型。6A携带者状态的优势比在散发性CRC中具有统计学意义，优势比（OR）=2.314（95%置信区间（CI）1.030 - 5.195），但在家族性CRC中无统计学意义。
未发现6A携带者状态与CRC诊断时的平均年龄之间存在关联。这是文献中第一篇在单一研究中评估6A多态性与总CRC、散发性CRC和家族性CRC之间的关联并减少对照组偏倚的文章。结果与其他研究和荟萃分析一致。
