title: Survivin gene promoter -31 G/C polymorphism is associated with Wilms tumor susceptibility in Serbian children.
abstract: Survivin, an apoptotic inhibitor, is overexpressed in various types of cancer. Mechanisms of survivin upregulation are still poorly understood, but single nucleotide polymorphisms in the survivin gene promoter have been shown to modulate survivin expression and consequently the risk for some types of cancer. The aim of the present study was to investigate whether survivin promoter -31 G/C and -241 C/T polymorphisms could represent susceptibility factors for Wilms tumor (WT) development in Serbian population. Genotype and allele frequencies for the 2 polymorphisms in survivin promoter have been analyzed by polymerase chain reaction/restriction fragment length polymorphism in 59 WT patients and 82 controls. The frequencies of alleles and genotypes were significantly different between patients and controls for the -31 G/C polymorphism. Individuals with CC and CG genotypes had significantly decreased risk of WT compared with GG individuals (odds ratio 0.26, 95% confidence interval, 0.07-0.96; odds ratio 0.30, 95% confidence interval, 0.15-0.60). There was also a statistically significant difference in genotype frequencies between intermediate and high-risk prognostic groups (P=0.015). The -241 C/T polymorphism did not show association with WT susceptibility. Our findings suggest that the G allele at -31 survivin gene promoter position is associated with a significantly higher cancer risk in Serbian children, with a gene dosage effect.
authors.affiliation: Institute of Pathology, School of Medicine, University of Belgrade, Belgrade, Serbia.
authors.forename: Sanja
authors.initials: S
authors.lastname: Radojevic-Skodric
authors.forename: Gordana
authors.initials: G
authors.lastname: Basta-Jovanovic
authors.forename: Dimitrije
authors.initials: D
authors.lastname: Brasanac
authors.forename: Nadja
authors.initials: N
authors.lastname: Nikolic
authors.forename: Ljiljana
authors.initials: L
authors.lastname: Bogdanovic
authors.forename: Biljana
authors.initials: B
authors.lastname: Milicic
authors.forename: Jelena
authors.initials: J
authors.lastname: Milasin
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D018628:Gene Dosage; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051034:Inhibitor of Apoptosis Proteins / Q000235:genetics* / Q000502:physiology; D007680:Kidney Neoplasms / Q000208:ethnology / Q000235:genetics*; D008297:Male; D011379:Prognosis; D055771:Serbia / Q000453:epidemiology; D000077022:Survivin; D009396:Wilms Tumor / Q000208:ethnology / Q000235:genetics*
chemical_list: C107489:BIRC5 protein, human; D051034:Inhibitor of Apoptosis Proteins; D000077022:Survivin