RNASEL 基因 R462Q(rs486907)和 D541E(rs627928)突变的携带情况与布基纳法索前列腺癌患者的危险因素。

Carriage of mutations R462Q (rs 486907) and D541E (rs 627928) of the RNASEL gene and risk factors in patients with prostate cancer in Burkina Faso.

机构信息

Laboratory of Molecular and Genetic Biology (LABIOGENE), Joseph KI-ZERBO University, 03 BP 7021, Ouagadougou 03, Burkina Faso.

Pietro Annigoni Biomolecular Research Center (CERBA), 01 BP 364, Ouagadougou 01, Burkina Faso.

出版信息

BMC Med Genomics. 2022 Jun 2;15(1):123. doi: 10.1186/s12920-022-01279-9.

DOI:10.1186/s12920-022-01279-9

PMID:35655265

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9161613/

Abstract

BACKGROUND

Prostate cancer (Pca) is a public health problem that affects men, usually of middle age or older. It is the second most common cancer diagnosed in men and the fifth leading cause of death. The RNASEL gene located in 1q25 and identified as a susceptibility gene to hereditary prostate cancer, has never been studied in relation to prostate cancer in Burkina Faso. The aim of this study was to analyze the carriage of RNASEL R462Q and D541E mutations and risks factors in patients with prostate cancer in the Burkina Faso.

METHODS

This case-control study included of 38 histologically diagnosed prostate cancer cases and 53 controls (cases without prostate abnormalities). Real-time PCR genotyping of R462Q and D541E variants using the TaqMan® allelic discrimination technique was used. Correlations between different genotypes and combined genotypes were investigated.

RESULTS

The R462Q variant was present in 5.3% of cases and 7.5% of controls. The D541E variant was present in 50.0% of cases and 35% of controls. There is no association between R462Q variants (OR = 0.60; 95%IC, 0.10-3.51; p = 0.686) and D541E variants (OR = 2.46; 95%IC, 0.78-7.80; p = 0.121) and genotypes combined with prostate cancer. However, there is a statistically significant difference in the distribution of cases according to the PSA rate at diagnosis (p ˂ 0.001). For the Gleason score distribution, only 13.2% of cases have a Gleason score greater than 7. There is a statistically significant difference in the Gleason score distribution of cases (p ˂ 0.001).

CONCLUSIONS

These variants, considered in isolation or in combination, are not associated with the risk of prostate cancer.

摘要

背景

前列腺癌（Pca）是一个影响男性的公共卫生问题，通常发生在中年或老年。它是男性中第二常见的癌症，也是第五大死亡原因。位于 1q25 并被确定为遗传性前列腺癌易感基因的 RNASEL 基因，从未在布基纳法索的前列腺癌中进行过研究。本研究的目的是分析布基纳法索前列腺癌患者中 RNASEL R462Q 和 D541E 突变的携带情况及其危险因素。

方法

这项病例对照研究包括 38 例组织学诊断为前列腺癌的病例和 53 例对照（无前列腺异常的病例）。使用 TaqMan®等位基因鉴别技术对 R462Q 和 D541E 变体进行实时 PCR 基因分型。研究了不同基因型和组合基因型之间的相关性。

结果

R462Q 变体在 5.3%的病例和 7.5%的对照组中存在。D541E 变体在 50.0%的病例和 35%的对照组中存在。R462Q 变体（OR = 0.60；95%CI，0.10-3.51；p = 0.686）和 D541E 变体（OR = 2.46；95%CI，0.78-7.80；p = 0.121）与基因型与前列腺癌之间无关联。然而，根据诊断时 PSA 率，病例的分布存在统计学上的显著差异（p < 0.001）。对于 Gleason 评分分布，只有 13.2%的病例的 Gleason 评分大于 7。病例的 Gleason 评分分布存在统计学上的显著差异（p < 0.001）。