研究动态
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中国汉族人群CYP19A1多态性与膀胱癌风险。

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

发表日期:2024 Aug 05
作者: Jing Liang, Yongfei Li, Panpan Wan, Wenjing Zhang, Junhui Han, Man Zhang, Bin Li, Tianbo Jin
来源: EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

摘要:

CYP19A1 的表达对女性膀胱癌的预后具有影响。然而,本研究旨在探讨 CYP19A1 中的单核苷酸多态性 (SNP) 与膀胱癌风险之间的关联,因为之前没有研究探讨过这种关联。我们选择了 5 个 CYP19A1 SNP(rs4646、rs6493487、rs1062033、rs17601876 和 rs3751599)并进行了基因分型。 )使用 Agena MassARRAY 系统对 217 名患者和 550 名对照进行了研究。采用逻辑回归分析来计算比值比 (OR) 和 95% 置信区间 (CI)。生物信息学预测了SNP功能和CYP19A1涉及的通路。我们的研究揭示了膀胱癌风险与四个SNP(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), 和 rs17601876 (GA vs. GG: OR = 1.66, FDR-p = 0.008)) 19A1。三个SNP(rs4646、rs1062033和rs17601876)与正常全血中CYP19A1的表达水平显着相关(p<0.05)。此外,CYP19A1被发现主要参与类固醇激素的生物合成和代谢途径。因此,CYP19A1基因多态性可能在膀胱癌的遗传易感性中发挥重要作用。
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.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.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.Consequently, CYP19A1 gene polymorphisms may play a crucial role in the genetic susceptibility to bladder cancer.