关键词: Linkage disequilibrium (LD) Microvariant Allele Short Tandem Repeats (STRs) X-chromosome (ChrX) haplotypes

Mesh : Biomarkers, Tumor / genetics Case-Control Studies Chromosomes, Human, X / genetics Follow-Up Studies Genetic Predisposition to Disease Genetic Variation Genetics, Population Humans Male Microsatellite Repeats Nuclear Proteins / genetics Prognosis Prostatic Hyperplasia / epidemiology genetics pathology Prostatic Neoplasms / epidemiology genetics pathology Receptors, Androgen / genetics Ribosomal Protein L10 / genetics Saudi Arabia / epidemiology Transducin / genetics Tumor Suppressor Proteins / genetics

来  源:   DOI:10.31557/APJCP.2020.21.8.2271   PDF(Pubmed)

Abstract:
The X-chromosome has been suggested to play a role in prostate cancer (PrCa) since epidemiological studies have provided evidence for an X-linked mode of inheritance for PrCa based on the higher relative risk among men who report an affected brother(s) as compared to those reporting an affected father. The aim of this study was to examine the potential association between the forensic STR markers located at four regions Xp22.31, Xq11.2-12, Xq26.2, and Xq28 and the risk of BPH and PrCa to confirm the impact of ChrX in the PrCa incidence. This may be helpful in the incorporation of STRs genetic variation in the early detection of men population at risk of developing PrCa.
DNA samples from 92 patients and 156 healthy controls collected from two medical centers in Riyadh, Saudi Arabia were analyzed for four regions located at X-chromosome using the Investigator® Argus X-12 QS Kit.
The results demonstrated that microvariant alleles of (DXS7132, DXS10146, HPRTB, DXS10134, and DXS10135) are overrepresented in the BPH group (p < 0.00001). Allele 28 of DXS10135 and allele 15 of DXS7423 could have a protective effect, OR 0.229 (95%CI, 0.066-0.79); and OR 0.439 (95%CI, 0.208-0.925). On the other hand, patients carrying allele 23 of DXS10079 and allele 26 of DXS10148 presented an increased risk to PrCa OR 4.714 (95%CI, 3.604-6.166).
The results are in concordance with the involvement of the X chromosome in PrCa and BPH development. STR allele studies may add further information from the definition of a genetic profile of PrCa resistance or susceptibility. As TBL1, AR, LDOC1, and RPL10 genes are located at regions Xp22.31, Xq11.2-12, Xq26.2, and Xq28, respectively, these genes could play an essential role in PrCa or BPH.
摘要:
X染色体已被认为在前列腺癌(PrCa)中起作用,因为流行病学研究已经为PrCa的X连锁遗传模式提供了证据,其基于报告受影响兄弟的男性的相对风险较高。这项研究的目的是检查位于Xp22.31,Xq11.2-12,Xq26.2和Xq28四个区域的法医STR标记与BPH和PrCa风险之间的潜在关联,以确认ChrX对PrCa发生率的影响。这可能有助于在早期发现有发生PrCa风险的男性人群中纳入STR遗传变异。
从利雅得的两个医疗中心收集的92名患者和156名健康对照的DNA样本,使用Investigator®ArgusX-12QS试剂盒分析沙特阿拉伯位于X染色体的四个区域。
结果表明,(DXS7132,DXS10146,HPRTB,DXS10134和DXS10135)在BPH组中代表过多(p<0.00001)。DXS10135的等位基因28和DXS7423的等位基因15可能具有保护作用,或0.229(95CI,0.066-0.79);和0.439(95CI,0.208-0.925)。另一方面,携带DXS10079等位基因23和DXS10148等位基因26的患者出现PrCaOR4.714的风险增加(95CI,3.604~6.166).
结果与X染色体参与PrCa和BPH发育是一致的。STR等位基因研究可以从PrCa抗性或易感性的遗传谱的定义中添加进一步的信息。作为TBL1,AR,LDOC1和RPL10基因分别位于区域Xp22.31,Xq11.2-12,Xq26.2和Xq28,这些基因可能在PrCa或BPH中起重要作用。
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