Dević Pavlić Sanja, Ristić Smiljana, Flego Veljko, Kapović Miljenko, Radojčić Badovinac Anđelka
Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia.
Genet Test Mol Biomarkers. 2012 Jul;16(7):722-5. doi: 10.1089/gtmb.2011.0306. Epub 2012 Feb 17.
Lung cancer is a complex disease, and many factors, including environmental and occupational exposure, cigarette smoking, and genetics, contribute to its progression. Angiotensin-converting enzyme (ACE) is an important regulator of blood pressure and cardiovascular homeostasis. Plasma levels of ACE depend on an insertion/deletion (I/D) polymorphism in its gene. Current correlation data between lung cancer and the ACE I/D polymorphism are contradictory or insufficient. We investigated whether the ACE I/D polymorphism is associated with a risk for lung cancer development in the Croatian population, representing the first report in a population of Slavic origin. A total of 308 lung cancer patients and 353 control subjects were genotyped for the ACE I/D polymorphism by polymerase chain reaction. The observed distribution of genotypes and alleles showed no significant difference between total patients and controls (p>0.050). However, in a subgroup of nonsmall cell lung cancer patients with squamous cell carcinoma, a significantly higher frequency of the DD genotype (37.7% vs. 27.8%, p=0.030, OR=1.57, 95% CI=1.05-2.36) and D allele was observed compared with the control group (61.3% vs. 52.8%, p=0.015, OR=1.41, 95% CI=1.07-1.87). The DD genotype of ACE may contribute to a higher risk of developing squamous cell carcinoma in the Croatian population.
肺癌是一种复杂的疾病，许多因素，包括环境和职业暴露、吸烟以及遗传因素，都对其进展有影响。血管紧张素转换酶（ACE）是血压和心血管稳态的重要调节因子。ACE的血浆水平取决于其基因中的插入/缺失（I/D）多态性。目前关于肺癌与ACE I/D多态性之间的相关性数据相互矛盾或不充分。我们调查了ACE I/D多态性是否与克罗地亚人群患肺癌的风险相关，这是在斯拉夫裔人群中的首份报告。通过聚合酶链反应对总共308例肺癌患者和353例对照受试者进行了ACE I/D多态性基因分型。观察到的基因型和等位基因分布在全部患者和对照组之间无显著差异（p>0.050）。然而，在非小细胞肺癌鳞状细胞癌亚组患者中，与对照组相比，观察到DD基因型（37.7%对27.8%，p=0.030，OR=1.57，95%CI=1.05 - 2.36）和D等位基因的频率显著更高（61.3%对52.8%，p=0.015，OR=1.41，95%CI=1.07 - 1.87）。ACE的DD基因型可能导致克罗地亚人群患鳞状细胞癌的风险更高。
