Revista Română de Medicină de Laborator Vol. 20, Nr. 2/4, Iunie 2012 Genetic Polymorphism of DNA repair gene ERCC2/XPD (Arg 156 Arg) (A22541C) and Lung Cancer Risk in Northern Romania Polimorfismul Arg 156 Arg (A22541C) al genei de reparare a ADN-ului ERCC2/XPD i riscul de a dezvolta cancer pulmonar în nordul României Andreea Catana 1* , Radu A. Popp 1 , Monica Pop 2 , Mihai D. Porojan 3 , Felicia M. Petrisor 1 , Ioan V. Pop 1 1. Department of Molecular Sciences, University of Medicine and Pharmacy Cluj, Romania 2. Department of Medical Specialities, University of Medicine and Pharmacy Cluj, Romania 3. Department of Internal Medicine, University of Medicine and Pharmacy Cluj, Romania Abstract Latest studies suggest that polymorphic DNA repair encoding genes could interfere with the etiopatho- geny and therefore individual susceptibility to develop lung cancer. Because ERCC2/XPD gene is generally in- volved in carcinogenesis, certain mutant polymorphism might be important risk factors in exposure to carcino- gens. The purpose of this case-control study is to evaluate for the first time in the Romanian population, ERCC2/XPD (A22541C) allele frequency among lung cancer patients. 65 patients with lung cancer (histological diagnosis) were randomly included in the study group, while 107 unrelated individuals served as controls. ER- CC2/XPD (A22541C) allele genotyping was performed using the RFLP molecular technique (restriction frag- ment length polymorphism), preceded by PCR amplification and enzyme restriction digestion. The results of the study suggest that ERCC2/XPD Arg 156Arg (A22541C) null allele frequency in lung cancer patients, compared to the control group has no significant difference (p=0,127), although XPD mutant genotypes vary according to tumor histological type. XPD Arg 156Arg, AA null allele seems to be associated with lung adenocarcinoma. Our major finding suggests that AA mutant genotype could to be associated with lung adenocarcinoma in smokers. Key words: DNA repair genes, genetic polymorphism, lung adenocarcinoma Rezumat Polimorfismele genelor care codifica proteine implicate in repararea ADN-ului ar putea contribui la variabilitatea individuală si susceptibilitatea de a dezvolta cancer pulmonar. Rolul genei ERCC2/XPD în carci- nogeneza pulmonara ar putea fi importanta în expunerea la agenŃi cancerigeni precum fumul de tigara.. Studiul prospectic, randomizat, caz-control care evaluaza frecvenŃa alelei mutante Arg 156 Arg (A22541C) a genei ER- * Corresponding author: Catana Andreea, Department of Molecular Sciences, UMF Cluj, 4-6 Pasteur street , Cluj Napoca, Cluj, PO Box 400349 Telephone: 0040.721.289.741, E-mail: catanaandreea@gmail.com 157 Original article