多态性与中国汉族人群膀胱癌风险。

polymorphisms and bladder cancer risk in the Chinese Han population.

机构信息

Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, School of Life Sciences, Northwest University, Xi'an, Shaanxi, China.

Provincial Key Laboratory of Biotechnology of Shaanxi Province, Northwest University, Xi'an, Shaanxi, China.

出版信息

Expert Rev Mol Diagn. 2024 Aug;24(8):743-752. doi: 10.1080/14737159.2024.2387652. Epub 2024 Aug 5.

DOI:10.1080/14737159.2024.2387652

PMID:39086208

Abstract

BACKGROUND

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

RESEARCH DESIGN AND METHODS

We selected and genotyped five 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 involving pathways.

RESULTS

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

CONCLUSIONS

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

摘要

背景

的表达与女性膀胱癌的预后有关。然而，本研究旨在探讨中的单核苷酸多态性（SNP）与膀胱癌风险之间的关联，因为之前没有研究涉及到这种关联。

研究设计与方法

我们使用 Agena MassARRAY 系统选择并对 217 名患者和 550 名对照者中的 5 个 SNPs（rs4646、rs6493487、rs1062033、rs17601876 和 rs3751599）进行了基因分型。采用 logistic 回归分析计算比值比（OR）和 95%置信区间（CI）。生物信息学预测 SNP 功能和涉及的通路。

结果

我们的研究表明，膀胱癌风险与四个 SNPs（rs4646（AC 与 CC：OR=1.71，FDR-=0.005）、rs6493487（G 与 A：OR=0.68，FDR-=0.011）、rs1062033（G 与 C：OR=0.36，FDR-<0.001）和 rs17601876（GA 与 GG：OR=1.66，FDR-=0.008））之间存在显著关联。这三个 SNPs（rs4646、rs1062033 和 rs17601876）与正常全血中的表达水平显著相关（<0.05）。此外，发现主要参与甾体激素生物合成和代谢途径。