Roudi Raheleh, Nemati Hosein, Rastegar Moghadam Mahsa, Sotoudeh Mehdi, Narouie Behzad, Shojaei Azadeh
Oncopathology Research Center, Iran University of Medical Sciences, Tehran, Iran.
Department of Genetics, Subdiscipline of Biology, Payame Noor University, Tehran, Iran.
Med J Islam Repub Iran. 2018 Oct 7;32:97. doi: 10.14196/mjiri.32.97. eCollection 2018.
Prostate cancer is a complex condition in which both genetic and environmental factors concomitantly contribute to the tumor initiation and progression. Recently, HOXB13 has been proposed as a susceptibility gene for prostate cancer. The present study was conducted to determine the existence of potential variations in HOXB13 gene in Iranian men with prostate cancer (PCa) compared to benign prostatic hyperplasia (BPH) cases. HOXB13 genetic status was screened in 51 samples, including 21 blood and tissue of PCa cases, and compared to 30 cases affected by BPH using PCR/sequencing. Then, the existence of potential association was investigated between genomic DNA alterations in blood and tissue PCa specimens. Analysis of BPH tissues showed single nucleotide variations c.366C > T (rs) or c.513T > C (rs9900627) in exon 1, but not in exon 2. Evaluation of PCa tissues revealed 2 cases with both synonymous c.366C > T and c.513T > C variants and 2 cases with the synonymous c.366C > T variant in exon 1. The variants c.366C > T and c.513T > C, simultaneously or separately, were found in blood samples of PCa patients. The novel variant c.127A > G in exon 2 was detected in 1 PCa blood sample. Our analysis indicated a significant reciprocal correlation between HOXB13 mutation in the tissue and blood samples of PCa cases (p= 0.02). The variants in exon 2 of HOXB13 may influence the risk of prostate cancer. Also, evaluation of HOXB13 mutation may be considered as a novel marker for screening PCa. Further investigations are warranted to evaluate the clinical significance of HOXB13 in Iranian population.
前列腺癌是一种复杂的疾病，其中遗传和环境因素共同促成肿瘤的发生和发展。最近，HOXB13被认为是前列腺癌的一个易感基因。本研究旨在确定与良性前列腺增生（BPH）病例相比，伊朗前列腺癌（PCa）男性中HOXB13基因是否存在潜在变异。对51个样本进行了HOXB13基因状态筛查，包括21例PCa病例的血液和组织样本，并与30例BPH患者进行比较，采用聚合酶链反应/测序法。然后，研究了PCa血液和组织样本中基因组DNA改变之间潜在关联的存在情况。对BPH组织的分析显示，外显子1存在单核苷酸变异c.366C>T（rs）或c.513T>C（rs9900627），但外显子2未发现。对PCa组织的评估发现，2例同时存在同义变异c.366C>T和c.513T>C，外显子1中有2例存在同义变异c.366C>T。PCa患者的血液样本中同时或分别发现了变异c.366C>T和c.513T>C。在1份PCa血液样本中检测到外显子2中的新变异c.127A>G。我们的分析表明，PCa病例组织和血液样本中HOXB13突变之间存在显著的相互相关性（p=0.02）。HOXB13外显子2中的变异可能影响前列腺癌风险。此外，对HOXB13突变的评估可被视为筛查PCa的一个新标志物。有必要进一步研究以评估HOXB13在伊朗人群中的临床意义。
