tailieunhanh - báo cáo khoa học: " Polymorphisms in the SULF1 gene are associated with early age of onset and survival of ovarian cancer"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Polymorphisms in the SULF1 gene are associated with early age of onset and survival of ovarian cancer | Han et al. Journal of Experimental Clinical Cancer Research 2011 30 5 http content 30 1 5 Journal of Experimental Clinical Cancer Research RESEARCH Open Access Polymorphisms in the SULF1 gene are associated with early age of onset and survival of ovarian cancer 1 1 2 1 3 z- t AÌ 1 1 Chan H Han Yu-Jing Huang Karen H Lu Zhensheng Liu Gordon B Mills Qingyi Wei Li-E Wang Abstract Background SULF1 sulfatase 1 selectively removes the 6-O-sulphate group from heparan sulfate changing the binding sites for extracellular growth factors. SULF1 expression has been reported to be decreased in various cancers including ovarian cancer. We hypothesized that single nucleotide polymorphisms SNPs of SULF1 would impact clinicopathologic characteristics. Methods We genotyped five common minor allele frequency regulatory SNPs with predicted functionalities rs2623047 G A rs13264163 A G rs6990375 G A rs3802278 G A and rs3087714 C T in 168 patients with primary epithelial ovarian cancer using the polymerase chain reaction-restriction fragment length polymorphism method. Results We found that rs2623047 G A was significantly associated with an early age of onset of ovarian cancer in the G allele dose-response manner P Ptrend and that rs2623047 GG GA genotypes were associated with longer progression-free survival rs6990375 G A was also associated with the early age of onset in the A allele dose-response manner P Ptrend . The significant differences in age of disease onset persisted among carriers of haplotypes of rs2623047 and rs6990375 P Ptrend . In luciferase reporter gene assays rs2623047 G allele showed a slightly higher promoter activity than the A allele in the SKOV3 tumorigenic cell line. Conclusions These findings suggest that genetic variations in SULF1 may play a role in ovarian cancer onset and prognosis. Further studies with large sample sizes and of the mechanistic relevance of SULF1 SNPs are warranted. Background SULF1 is a