ABSTRACT
ObjectiveTo investigate the association between the common variant rs1512268 single nucleotide polymorphism(SNP) of NKX3.1 gene and the risk of prostate cancer,and to explore its interaction with related risk factors.MethodsTotally 122 patients with prostate cancer and 105 age matched male people (prostatic specific antigen ＜ 4 μg/L,without family history of prostate cancer) as control group were enrolled.Polymerase chain reaction - high resolution melting curve(PCR - HRM) combined with gene sequencing methods were used to determine the distribution of allele and genotype frequencies of the rs1512268 SNP.ResultsThe distributions of GG,AG,AA genotypes were 42 cases(33.4％),66 cases(54.1％),14 cases(11.5％) in patients with prostate cancer,and 45 cases(42.9％),51 cases(48.6％),9 cases(8.6％) in healthy control,respectively.There were no significant differences in the distribution of genotype(x2 =1.70,0.69,0.52) and allele frequency (x2 =1.575) between the two groups(P＞ 0.05).The different genotypes of rs1512268 of NKX3.1 gene were not associated with age,Gleason score,PSA levels and clinical stage of prostate cancer (P＞0.05). Conclusions rs1512268 SNP of NKX3.1 gene is not obviously associated with prostate cancer and may be not the genetic risk factor in Chinese.
ABSTRACT
ObjectiveTo investigate the methylation status in the promoter region of secreting frizzled related protein 2 (SFRP2) gene in patients with myelodyplastic sydrome (MDS) and to initially explore the relationship between the methylation of this gene and prognosis/survival time.MethodsMSP method was applied to examine the promoter methylation of SFRP2 gene in 43 bone marrow or peripheral blood samples of MDS patients.As controls,70 normal peripheral blood samples from volunteers of general outpatients were examined.Then some of the patients were followed up.ResultsIn 43 patients of MDS,10 samples (23.3 ％)showed SFRP2 gene methylation,and all of them were semi-methylation status.In 70 controls,no sample showed SFRP2 gene methylation.The frequency of SFRP2 gene methylation in MDS patients was significantly higher than that in controls (x2 =17.86,P ＜0.0001).Of the 10 SFRP2 gene methylation samples,5 were bone marrow samples and 5 were peripheral blood samples.In this group of patients,3 patients were diagnosed as RA,1 patient was diagnosed as RAS,2 patients were diagnosed as RCMD,3 patients were diagnosed as RAEB and 1 patient was diagnosed as MDS-U.There was no significant difference between the different sample source (bone marrow or peripheral blood) for the results of the methylation status (x2 =0.912,P ＞0.05).Either no significant difference between the different sex,age,type,chromosome and WPSS score (all P ＞0.05).The progress of disease didn' t influence the methylation rate (P ＞0.05).16 patients accepted follow-up and 11patients died,3 patients went to AML.2 died patients showed SFRP2 gene methylation.The survival analyses showed no relationship between the methylation of this gene and survival time(x2 =0.022, P ＞0.05).ConclusionIn this MDS group,there is a high level of methyl-modification in SFRP2 gene.The methylation of SFRP2 may be one of the molecular mechanisms that contribute to the progress of patients with MDS.The peripheral blood sample maybe a better substitute in detection of SFRP2 with MDS.
ABSTRACT
Objective To explore the correlation between ITGA6 gene (rs12621278, G), MSMB gene (rs10993994, T), chromosome 8q24 (rs10086908, T) and prostate cancer (PCa) in Beijing residents, and to explore the correlation between genotype and phenotype in PCa patients. Methods PCa patient phenotypes were collected including clinical, genetic, dietary habits, hobbies and blood samples. ITGA6 gene (rs12621278, G), chromosome 8q24 (rs10086908, T) and MSMB gene (rs10993994, T) compared the allele distribution between 112 PCa and 91 healthy control age matched patients. The genotype and phenotype analysis was conducted in the 2 groups. Results Between the case and control groups, only rs10993994, T of MSMB gene (case 56.4%,control 46.2%) was significantly different (P=0.001; OR=1.97, 95%CI:1.28-3.04). The rs10086908, T of 8q24 (case 83.5%, control 79.2%) and rs12621278, G of ITGA6 gene (case 27.2%, control 27.0%) were not significantly associated with PCa in the study sample (P>0.05). Quantitative trait analysis showed that the disease duration of ITGA6 risk genotypes (G/G,1.40±0.55 years) in PCa patients was significantly shorter (P=0.003) than the other genotype carriers (A/G, 4.38±3.10 years; A/A, 2.37±1.84 years). Conclusion The genetic variation in MSMB is possibly associated with PCa susceptibility, suggesting that MSMB genes might be associated with PCa in a Chinese population.