ABSTRACT
Objective:To identify a novel desmoplakin(DSP)gene variants which associated with the risk of prostate cancer in Northern Chinese.Methods:Analyzing RNA-Seq data of tumor-normal pairs from 10 Northern Chinese cases with prostate cancer, 26 candidate single-nucleotide variants(SNVs)in tumor mRNA with potential biological significance were screened.The genotyping and association analysis of these variants were performed in the peripheral blood genomic DNA from 245 Northern Chinese individuals with prostate cancer and 100 matched controls by using Sequenom MassArray System.Results:We identified that two previously unrecognized SNVs CHST12 rs12536223 C>T( P=0.033, OR=2.730, 95% CI: 1.046-7.097)and DSP rs28763961 A>T( P=0.030, OR=0.55, 95% CI: 0.315-0.948)were associated with prostate cancer.Carriers of rs28763961T allele versus carriers of rs28763961A allele showed a higher DSP expression in tumor tissue( P=0.036)and lower total prostate-specific antigen(PSA)level( P=0.007)in peripheral blood. Conclusions:rs12536223 and rs28763961 are associated with prostate cancer in Northern Chinese.The carrier status of rs28763961T allele decreases the risk of prostate cancer.