CYP19A1 polymorphisms and bladder cancer risk in the Chinese Han population.

IF 3.9 3区医学 Q1 PATHOLOGY

Expert Review of Molecular Diagnostics Pub Date : 2024-08-01 Epub Date: 2024-08-05 DOI:10.1080/14737159.2024.2387652

Jing Liang, Yongfei Li, Panpan Wan, Wenjing Zhang, Junhui Han, Man Zhang, Bin Li, Tianbo Jin

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引用次数: 0

Abstract

Background: The expression of CYP19A1 has implications for the prognosis of female bladder cancer. However, this study aimed to explore the association between single nucleotide polymorphisms (SNPs) in CYP19A1 and bladder cancer risk, as no prior research has addressed this association.

Research design and methods: We selected and genotyped five CYP19A1 SNPs (rs4646, rs6493487, rs1062033, rs17601876, and rs3751599) in 217 patients and 550 controls using the Agena MassARRAY system. Logistic regression analysis was employed to calculate the odds ratio (OR) and 95% confidence intervals (CIs). Bioinformatics predicted SNP functions and CYP19A1 involving pathways.

Results: Our study revealed a significant association between bladder cancer risk and four SNPs (rs4646 (AC vs. CC: OR = 1.71, FDR-p = 0.005), rs6493487 (G vs. A: OR = 0.68, FDR-p = 0.011), rs1062033 (G vs. C: OR = 0.36, FDR-p < 0.001), and rs17601876 (GA vs. GG: OR = 1.66, FDR-p = 0.008)) in CYP19A1. The three SNPs (rs4646, rs1062033, and rs17601876) were significantly correlated with CYP19A1 expression levels in normal whole blood (p < 0.05). Moreover, CYP19A1 was found to primarily participate in the steroid hormone biosynthesis and metabolic pathways.

Conclusions: Consequently, CYP19A1 gene polymorphisms may play a crucial role in the genetic susceptibility to bladder cancer.

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中国汉族人群中的 CYP19A1 多态性与膀胱癌风险。

背景：CYP19A1 的表达对女性膀胱癌的预后有影响：CYP19A1的表达对女性膀胱癌的预后有影响。然而，本研究旨在探讨 CYP19A1 中单核苷酸多态性（SNPs）与膀胱癌风险之间的关联，因为之前的研究尚未涉及这一关联：我们利用 Agena MassARRAY 系统对 217 名患者和 550 名对照者中的 5 个 CYP19A1 SNPs（rs4646、rs6493487、rs1062033、rs17601876 和 rs3751599）进行了筛选和基因分型。采用逻辑回归分析法计算几率比（OR）和 95% 置信区间（CI）。生物信息学预测了SNP的功能和CYP19A1的参与途径：我们的研究发现，膀胱癌风险与 CYP19A1 中的 4 个 SNPs（rs4646（AC 对 CC：OR = 1.71，FDR-p = 0.005）、rs6493487（G 对 A：OR = 0.68，FDR-p = 0.011）、rs1062033（G 对 C：OR = 0.36，FDR-p p = 0.008））之间存在显著关联。这三个 SNPs（rs4646、rs1062033 和 rs17601876）与正常全血中 CYP19A1 的表达水平显著相关：因此，CYP19A1 基因多态性可能在膀胱癌遗传易感性中起着至关重要的作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Expert Review of Molecular Diagnostics 医学-病理学

CiteScore

6.60

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Expert Review of Molecular Diagnostics (ISSN 1473-7159) publishes expert reviews of the latest advancements in the field of molecular diagnostics including the detection and monitoring of the molecular causes of disease that are being translated into groundbreaking diagnostic and prognostic technologies to be used in the clinical diagnostic setting. Each issue of Expert Review of Molecular Diagnostics contains leading reviews on current and emerging topics relating to molecular diagnostics, subject to a rigorous peer review process; editorials discussing contentious issues in the field; diagnostic profiles featuring independent, expert evaluations of diagnostic tests; meeting reports of recent molecular diagnostics conferences and key paper evaluations featuring assessments of significant, recently published articles from specialists in molecular diagnostic therapy. Expert Review of Molecular Diagnostics provides the forum for reporting the critical advances being made in this ever-expanding field, as well as the major challenges ahead in their clinical implementation. The journal delivers this information in concise, at-a-glance article formats: invaluable to a time-constrained community.

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