| ObjectiveSoft tissue sarcomas(STSs)are rare malignant tumors originating from mesenchymal tissue,but histopathologic subtypes of STSs are numerous.STSs are great threat to human health in the worldwide because of their high invasiveness,high recurrence and high metastasis.Tumor suppressor genes PTEN and NF1 have been confirmed to be involved in the morbidity of many kinds of tumors,and the relationship between their single nucleotide polymorphisms(SNPs)and tumor susceptibility have received widespread concern,but the association between PTEN or NF1 SNPs and STS susceptibility has rarely been reported.The purpose of the present study was to explore the relationship between the PTEN or NF1 SNPs and susceptibility of soft tissue sarcomas,and to provide a theoretical basis for the screening and prevention for the patients with soft tissue sarcoma.Materials and Methods1.Subjects,samples and data collectionPatients with soft tissue sarcoma who visited the Department of Bone and Soft Tissue Oncology in Henan Province Tumor Hospital from September 1,2018 to March31,2020 were selected as the case group,and age/gender-paired healthy people who came to the hospital for physical examination at the same time were selected as the control group.Finally,136 patients were included in the case group and 124 persons in the control group.Leukocyte DNA was extracted after fasting elbow venous blood in the morning for subsequent experiments.The basic information of the case group was obtained from the medical record room in the hospital,while the basic information of the control group was obtained by the researchers through questionnaire survey.2.Screening,detection and statistical analysis of SNPs in tumor suppressor gene PTEN and NF1The tag SNPs of PTEN and NF1 were detected by haploview 4.2 software based on the data in Chinese Han population from the Hap Map Project(www.hapmap.org).Finally,a total of 11 SNPs were detected for analyzing association with susceptibility of soft tissue sarcoma(PTEN:rs12569998,rs2299939,rs2735343,rs3830675,rs701848;NF1:rs1048317,rs2854319,rs2905789,rs2905881,rs2953014,rs7406983).SNP genotyping was performed by SNa Pshot assays.The data were analyzed by SPSS25.0 software.The t test orχ~2test were used to analyze the difference of basic information between the control group and the case group.The Hardy-Weinberg genetic balance of the control group was analyzed by goodness-of-fitχ~2 test.Binary logistic regression model was used to analyze the relationship of the SNPs of the two gene(PTEN and NF1)or mutation number and the susceptibility of soft tissue sarcoma,and linear by linear association test was used to analyze the variation trend of the number of allele mutations in tumor suppressor gene NF1.Results1.There were no significant correlation between PTEN SNPs(rs12569998,rs2299939,rs2735343,rs3830675,rs701848)and the susceptibility of soft tissue sarcomas(P>0.05).2.NF1 rs2905789(TC/CC)was significantly associated with the susceptibility of soft tissue sarcoma(P<0.05),and the risk of developing soft tissue sarcoma increased by 1.702 times in the individuals carrying NF1 rs2905789(TC/CC)compared with that carrying wild homozygous TT(P=0.049;OR=1.702;95%CI=1.002 2.890).3.The analysis results of the number of allelic mutations with NF1 showed that the risk of soft tissue sarcoma did not change with the increased number of mutations.ConclusionsTumor suppressor gene NF1 rs2905789 SNP was significantly correlated with the susceptibility of soft tissue sarcoma.The risk of soft tissue sarcoma in the individuals carrying NF1 rs2905789(TC/CC)is higher.This may provide a new way to explore the risk of soft tissue sarcoma,and will contribute to the screening and prevention of STS patients. |
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