南印度人群尿路上皮膀胱癌中rs2294008(PSCA)基因多态性的关联研究

Association of rs2294008 (PSCA) Gene polymorphism in Urothelial Bladder Cancer of South Indian Population.

作者信息

Bidi Saziya R, Ghagane Shridhar C, Rangrez Shadab, Nerli Rajendra

机构信息

Department of Urology, JN Medical College, KLE Academy of Higher Education and Research (Deemed-to-be-University), JNMC Campus, Belagavi-590010, India.

Urinary Biomarkers Research Centre, KLE Academy of Higher Education and Research, India.

出版信息

Asian Pac J Cancer Prev. 2025 Apr 1;26(4):1441-1446. doi: 10.31557/APJCP.2025.26.4.1441.

Abstract

BACKGROUND

Urothelial Bladder cancer (UBC) is a significant health problem worldwide. Prostate stem cell antigen (PSCA) gene has been reported earlier in Genome Wide Association Study (GWAS) for the risk of UBC. It is highly expressed in urothelial bladder tumours and considered to be involved in the cell proliferation inhibition and/or cell-death induction activity. The study aims to investigate PSCA gene as a possible marker for the diagnosis and prognosis of urothelial bladder cancer.

PATIENTS AND METHODS

We genotyped PSCA rs2294008C/T gene by Real Time Taqman® probes to evaluate the risk of UBC in histologically confirmed bladder tumour patients 107 and healthy controls 105 (age and gender matched) in a hospital-based setting from South Indian population. Statistical analysis was carried out using (SPSS ver 22.0 Armonk NY, USA).

RESULTS

The heterozygous CT genotype showed increased significance risk to UBC with PSCA rs2294008 C/T having 2.77 folds risk (p<0.0001). The variant allele T was also significantly associated with UBC risk (p<0.0001; OR=3.349) for PSCA rs2294008C/T. A significant UBC risk was noted when risk was evaluated with tumor-grade-stage level for PSCA rs2294008C/T with heterozygous CT genotype for high grade tumours (p<0.001; OR=1.984). The smoking factor was significantly modulated with the risk of UBC in patients with heterozygous CT genotype (p<0.0001) for PSCA rs2294008C/T gene polymorphism. Urothelial Bladder cancer patients receiving BCG treatment showed no significant association with genotype of PSCA.

CONCLUSIONS

The present study has unveiled a complex intervention of PSCA rs2294008C/T conferring a higher risk of UBC risk among smokers in South Indian population, providing evidence that it may contribute to bladder carcinogenesis regardless of ethnicity. These findings suggest that the PSCA rs2294008C/T polymorphism of PSCA gene could be served as a biomarker for genetic susceptibility to bladder cancer in Indian populations.

摘要

背景

尿路上皮膀胱癌(UBC)是全球范围内一个重要的健康问题。前列腺干细胞抗原(PSCA)基因在全基因组关联研究(GWAS)中较早被报道与UBC风险相关。它在尿路上皮膀胱肿瘤中高表达,并被认为参与细胞增殖抑制和/或细胞死亡诱导活性。本研究旨在探讨PSCA基因作为尿路上皮膀胱癌诊断和预后的一种可能标志物。

患者与方法

我们采用实时Taqman®探针法对PSCA rs2294008C/T基因进行基因分型,以评估印度南部人群中107例经组织学确诊的膀胱肿瘤患者和105例年龄及性别匹配的健康对照发生UBC的风险。使用(美国纽约阿蒙克的SPSS ver 22.0)进行统计分析。

结果

杂合子CT基因型显示出对UBC的显著风险增加,PSCA rs2294008 C/T的风险为2.77倍(p<0.0001)。对于PSCA rs2294008C/T,变异等位基因T也与UBC风险显著相关(p<0.0001;OR=3.349)。当对PSCA rs2294008C/T进行风险评估时,杂合子CT基因型的高级别肿瘤患者的UBC风险显著(p<0.001;OR=1.984)。对于PSCA rs2294008C/T基因多态性,杂合子CT基因型患者的吸烟因素与UBC风险显著相关(p<0.0001)。接受卡介苗治疗的尿路上皮膀胱癌患者与PSCA基因型无显著关联。

结论

本研究揭示了PSCA rs2294008C/T的复杂干预作用,在印度南部人群中吸烟者发生UBC的风险更高,这表明无论种族如何,它可能都参与了膀胱癌的发生。这些发现表明,PSCA基因的PSCA rs2294008C/T多态性可作为印度人群膀胱癌遗传易感性的生物标志物。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索