ORIGINAL ARTICLE Survivin -31G/C promoter polymorphism and sporadic colorectal cancer Maria Gazouli & Nikolaos Tzanakis & George Rallis & George Theodoropoulos & Ioannis Papaconstantinou & Alkiviadis Kostakis & Nicholas P. Anagnou & Nikolaos Nikiteas Accepted: 1 October 2008 / Published online: 23 October 2008 # Springer-Verlag 2008 Abstract Introduction Survivin is an apoptotic inhibitor, plays an important role in cell cycle regulation, and may be involved in the development and progression of cancer. A common polymorphism at the survivin gene promoter (-31 G/C) has been shown to influence survivin expression and the risk for cancer. Aim The aim of the present study was to investigate whether this polymorphism could be involved in the sporadic colorectal cancer (CRC) development, prognosis, and survival. Materials and methods The -31G/C polymorphism of survivin promoter was analyzed by polymerase chain reaction (PCR) restriction fragment length polymorphism method in biopsies from 312 patients with sporadic CRC and 362 healthy individuals. Survivin messenger RNA (mRNA) expression in CRC tissues was detected by quantitative reverse transcriptase PCR. Results and discussion The genotype frequencies for - 31GG, -31GC, and -31CC were 21.79%, 41.99%, and 36.22% in CRC patients and 33.98%, 45.03%, and 20.99% in healthy subjects, respectively. The frequencies of the survivin -31C allele and CC genotype were significantly higher in CRC patients than in healthy subjects (p <0.0001). Homozygotes for the -31CC survivin genotype, expressed 1.6-fold higher mRNA levels of survivin compared to cases with the -31GG and -31GC genotypes. Conclusion The -31CC genotype of survivin promoter is associated with CRC and may be a risk factor for CRC. Keywords Survivin . -31G/C polymorphism . Colorectal cancer Introduction The inhibitor of apoptosis proteins (IAPs) are a family of anti-apoptotic proteins that inhibit initiator (caspase-9) and effector caspases (caspase-3 and caspase-7) and thus prevent apoptosis [1, 2]. Survivin, a recently found member of the IAPs family [3, 4], is involved in cell cycle reg- ulation and in inhibition of the apoptotic pathways [5, 6]. To date, eight human IAP family members have been determined. These proteins exhibit one to three baculovirus IAP repeat (BIR) domains, which is important for their anti- apoptotic effect and a C-terminal RING motif or caspase Int J Colorectal Dis (2009) 24:145–150 DOI 10.1007/s00384-008-0601-2 M. Gazouli : N. P. Anagnou Department of Biology, School of Medicine, University of Athens, Greece, 11725 Athens, Greece N. Tzanakis : A. Kostakis : N. Nikiteas (*) 2nd Propaideutic Surgical Department, Laikon University Hospital, 11725 Athens, Greece e-mail: nnikit@med.uoa.gr G. Rallis 4th Surgical Department, Attikon Hospital, University of Athens, 12462 Athens, Greece G. Theodoropoulos 1st Department of Propaedeutic Surgery, Hippokratio Hospital, School of Medicine, University of Athens, 1527 Athens, Greece I. Papaconstantinou St Mark’ s Hospital, & Academic Institute, HA1 3UJ Harrow, London N. P. Anagnou Cell and Gene Therapy Laboratory, Biomedical Research Foundation of the Academy of Athens (BRF), 11527 Athens, Greece