布基纳法索前列腺癌患者ELAC2基因Ser217Leu和Ala541Thr变异的携带及其危险因素

IF 2.3 Q3 ONCOLOGY Prostate Cancer Pub Date : 2022-01-01 DOI:10.1155/2022/3610089
Aïda Djé Djénèba Traoré, Bienvenu Désiré Ky, Lassina Traoré, Théodora M Zohoncon, Abdou Azaque Zouré, Albert Théophane Yonli, Herman Karim Sombié, Pegdwendé Abel Sorgho, Bapio Valery Jean Télesphore Elvira Bazié, Sessi Frida Appoline Tovo, Essonan Kadanga, Bélélé Siméon Bakyono, Kalifou Traore, Teega-Wendé Clarisse Ouédraogo, Florencia W Djigma, Jacques Simpore
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引用次数: 0

摘要

背景:遗传因素是前列腺癌(PCa)发生的重要因素之一,遗传性前列腺癌2 (HPC2)基因座基因ELAC2被认为是前列腺癌的易感区域。HPC2/ELAC2基因已在美国家族性前列腺癌患者中通过连锁分析确定,但从未在布基纳法索进行过研究。本研究的目的是分析布基纳法索前列腺癌患者ELAC2基因C650T (Ser217Leu)和G1621A (Ala541Thr)突变的携带情况及其危险因素。方法:本病例对照研究纳入76例受试者,其中组织学证实的前列腺癌患者38例,前列腺无异常的健康对照38例。采用PCR结合限制性片段长度多态性(RFLP)对ELAC2基因Ser217Leu和Ala541Thr多态性进行基因型鉴定。研究不同基因型与前列腺癌危险因素的相关性。结果:C650T突变存在于44.73%的前列腺癌病例和47.37%的对照组中。G1621A突变存在于26.32%的前列腺癌病例和15.79%的对照组中。我们没有发现前列腺癌风险与ELAC2基因的Ser217Leu (p=0.972)和Ala541Thr (p=0.267)变异之间的关联。此外,两个ELAC2 snp与临床分期、诊断时的前列腺特异性抗原(PSA)水平或活检时的Gleason评分无关。然而,我们发现100%的T650突变纯合携带者都有A1621突变(p≤0.001)。结论:ELAC2的Ser217Leu和Ala541Thr多态性,单独或联合考虑,与前列腺癌的风险无关。
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Carriage of Ser217Leu and Ala541Thr Variants of ELAC2 Gene and Risk Factors in Patients with Prostate Cancer in Burkina Faso.

Background: Genetic factors are one of the significant contributors to prostate cancer (PCa) development, and hereditary prostate cancer 2 (HPC2) locus gene ELAC2 is considered a PCa susceptibility region. The HPC2/ELAC2 gene has been identified by linkage analysis in familial prostate cancer patients in the United States but has never been studied in Burkina Faso. The objective of the present study was to analyze the carriage of the C650T (Ser217Leu) and G1621A (Ala541Thr) mutations of the ELAC2 gene and the risk factors in prostate cancer patients in Burkina Faso.

Methods: This case-control study included 76 participants, including 38 histologically confirmed prostate cancer cases and 38 healthy controls without prostate abnormalities. PCR combined with restriction fragment length polymorphism (RFLP) was used to characterize the genotypes of the Ser217Leu and Ala541Thr polymorphisms of the ELAC2 gene. The correlations between the different genotypes and risk factors for prostate cancer were investigated.

Results: The C650T mutation was present in 44.73% of prostate cancer cases and 47.37% of controls. The G1621A mutation was present in 26.32% of prostate cancer cases and 15.79% of controls. We did not detect an association between prostate cancer risk and the Ser217Leu (p=0.972) and Ala541Thr (p=0.267) variants of the ELAC2 gene. Also, the two ELAC2 SNPs did not correlate with clinical stage, prostate-specific antigen (PSA) level at diagnosis, or the Gleason score on biopsies. However, we found that 100% of homozygous carriers of the T650 mutation have an A1621 mutation (p ≤ 0.001).

Conclusion: Ser217Leu and Ala541Thr polymorphisms of ELAC2, considered alone or in combination, are not associated with prostate cancer risk.

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来源期刊
Prostate Cancer
Prostate Cancer ONCOLOGY-
CiteScore
2.70
自引率
0.00%
发文量
9
审稿时长
13 weeks
期刊介绍: Prostate Cancer is a peer-reviewed, Open Access journal that provides a multidisciplinary platform for scientists, surgeons, oncologists and clinicians working on prostate cancer. The journal publishes original research articles, review articles, and clinical studies related to the diagnosis, surgery, radiotherapy, drug discovery and medical management of the disease.
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