polymorphisms influence the risk and prognosis of rhabdomyosarcoma in children.

BACKGROUND

Rhabdomyosarcoma(RMS) is the most common soft tissue sarcoma in children and single nucleotide polymorphisms(SNPs) in certain genes influence risk of RMS. Although had been reported in multiple cancers including RMS, the role of polymorphisms in RMS remains unclear. In this case-control study, we evaluated the association of SNPs with RMS risk and prognosis in children.

METHODS

Four SNPs(rs17069665 A>G, rs4946936 T>C, rs4945816 C>T and rs9400241 C>A) were genotyped in 110 RMS cases and 359 controls. The associations between polymorphisms and RMS risk were determined by odds ratios(ORs) with 95% confidence intervals(CIs). The associations of rs17069665 and rs4946936 with overall survival in RMS children were estimated using the Kaplan-Meier method and log-rank test. Functional analysis in silico was performed to estimate the probability that rs17069665 and rs4946936 might influence the regulation of .

RESULTS

We found that rs17069665 (GG vs. AA+AG, adjusted OR=2.96; 95%CI [1.10-3.32]; =0.010) and rs4946936 (TC+CC vs. TT, adjusted OR=0.48; 95%CI [0.25-0.90]; =0.023) were related to the increased and decreased RMS risk, respectively. Besides, rs17069665(<0.001) and rs4946936(<0.001) were associated with decreased and increased overall survival in RMS patients, respectively. Functional analysis showed that rs17069665 and rs4946936 might influence the transcription and expression of via altering the bindings to MYC, CTCF, and/or RELA.

CONCLUSIONS

This study revealed that polymorphisms influence the RMS susceptibility and prognosis in children, and might altered the expression of . polymorphism was suggested as a biomarker for RMS susceptibility and prognosis.