investigation of foxp3 genetic variations at positions -2383 c/t and ivs9+459 t/c in southern iranian patients with lung carcinoma

objective(s): foxp3 gene is an x-linked gene that encodes foxp3 protein, an essential transcription factor in cd4+cd25+foxp3+ regulatory t (treg) cells.  we aimed, in the present study, to investigate the association of two foxp3 polymorphisms, -2383 c/t (rs3761549) and ivs9+459 t/c (rs2280883), with lung cancer. materials and methods:  in a case-control study we analyzed genotypes and alleles frequencies at -2383 c/t and ivs9+459 t/c positions in 156 patients with lung cancer and 156 age and sex matched healthy controls in southern iranian population, using polymerase chain reaction-restriction fragment length polymorphism (pcr-rflp) methods. the data were verified by direct automated dna sequencing. results: the frequency of -2383 t allele was significantly higher in the patients than in the control group (11.8% versus 5.9%, p-value=0.04, or=2.13, 95%ci=1.04-4.54). t allele frequency at ivs9+459 t/c position was higher, compared to the controls, in the patients who presented the disease over 55 years old (69.9% versus 59.1%, p-value=0.04, or=1.61, 95%ci=1.01-2.55) and also in sclc patients (77.8% versus 59.1%, p-value=0.03, or=2.42, 95%ci=1.05-5.59). no significant differences were found in the genotypes and haplotypes distributions between the cases and controls. a high degree of linkage disequilibrium was observed between two polymorphisms.  conclusion: as the first study dealing with -2383 c/t and ivs9+459 t/c in lung cancer, our data conclusively suggest the association of -2383 t allele with susceptibility to lung cancer in iranian population. the association of ivs9+459 t allele with susceptibility to lung cancer in old patients suggests the age-dependent effects of foxp3 gene on cancer occurrence.