ELAC2基因Ser217Leu变异在喀麦隆沿海地区人群中的流行及其与前列腺癌的关系

Alexandra Lindsey Zune Djomkam, Theodore Beyeme Sala, Clarisse Baari Memba, D. L. Njimoh
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引用次数: 6

摘要

背景。HPC2/ELAC2已被确定为前列腺癌(PC)易感基因。217号氨基酸的丝氨酸-亮氨酸变化是该基因研究最多的变异之一。几份报告显示,从遗传性PC家族中抽取的男性样本中,甚至是散发病例中,这种变异与PC存在关联。的目标。本研究旨在评估这种关联以及ELAC2 Ser217Leu变体在喀麦隆沿海地区人群中的流行程度。方法:103例PC病例和80例从研究人群中随机选择的对照组参加了研究。从每位同意的参与者身上采集2毫升血液样本,分别通过非酶盐析和PCR-RFLP方法提取人类基因组DNA并对ELAC2基因进行基因分型。结果。野生型(SS)、杂合突变型(SL)和纯合突变型(LL)基因型的频率在前列腺癌患者中分别为28.2%、49.5%和22.3%,在对照组中分别为28.8%、67.5%和3.7%。将LL与SS和(SL+LL)与SS进行比较发现,存在两个L等位基因的人患前列腺癌的风险较高,而只存在一个L等位基因的人患前列腺癌的风险较低(OR分别为6.080和1.030)。分析结果还表明,Ser217Leu变异与前列腺癌风险增加存在关联(P = 0.0012)。结论。ELAC2基因的改变与喀麦隆沿海地区男性前列腺癌易感性有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Prevalence of the Ser217Leu Variant of the ELAC2 Gene and Its Association with Prostate Cancer in Population of the Littoral Region of Cameroon
Background. HPC2/ELAC2 has been identified as a prostate cancer (PC) susceptibility gene. Ser- Leu changes at amino acid 217 have been one of the most studied variants of this gene. Several reports have shown association of this variant with PC in samples of men drawn from families with hereditary PC and even sporadic cases. Aim. This study aimed at assessing this association and the prevalence of the Ser217Leu variant of ELAC2 in populations of the Littoral Region of Cameroon. Method. 103 PC case subjects and 80 randomly selected controls identified from the study population participated in the study. 2 milliliters of blood samples was collected from each of the consented participants and used for human genomic DNA extraction and genotyping of the ELAC2 gene by the nonenzymatic salting out and PCR-RFLP methods, respectively. Results. The frequencies of the wild type (SS), heterozygous mutant (SL), and homozygous mutant (LL) genotypes were, respectively, 28.2%, 49.5%, and 22.3% in prostate cancer patients and 28.8%, 67.5%, and 3.7% in controls. Comparing the LL with SS and (SL+LL) with SS showed that the presence of two copies of the L allele confers a high risk of prostate cancer as compared to the presence of only one L allele which presents no risk of prostate cancer (OR = 6.080 and 1.030, respectively). Analysis of our results also suggested an association (P = 0.0012) of the Ser217Leu variant with increased risk of prostate cancer. Conclusion. Alterations in the ELAC2 gene contribute to prostate cancer susceptibility in men living in the Littoral Region of Cameroon.
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