Suppr超能文献

膀胱癌单核苷酸多态性检测板可预测易感性和生存率。

Bladder cancer SNP panel predicts susceptibility and survival.

作者信息

Andrew Angeline S, Gui Jiang, Sanderson Arthur C, Mason Rebecca A, Morlock Elaine V, Schned Alan R, Kelsey Karl T, Marsit Carmen J, Moore Jason H, Karagas Margaret R

机构信息

Section of Biostatistics and Epidemiology, Department of Community and Family Medicine, Dartmouth Medical School, Lebanon, NH 03756, USA.

出版信息

Hum Genet. 2009 Jun;125(5-6):527-39. doi: 10.1007/s00439-009-0645-6. Epub 2009 Mar 1.

Abstract

Bladder cancer is the fourth most common malignancy in men and the eighth most common in women in western countries. Single nucleotide polymorphisms (SNPs) in genes that regulate telomere maintenance, mitosis, inflammation, and apoptosis have not been assessed extensively for this disease. Using a population-based study with 832 bladder cancer cases and 1,191 controls, we assessed genetic variation in relation to cancer susceptibility or survival. Findings included an increased risk associated with variants in the methyl-metabolism gene, MTHFD2 (OR 1.7 95% CI 1.3-2.3), the telomerase TEP1 (OR 1.8 95% CI 1.2-2.6) and decreased risk associated with the inflammatory response gene variant IL8RB (OR 0.6 95% CI 0.5-0.9) compared to wild-type. Shorter survival was associated with apoptotic gene variants, including CASP9 (HR 1.8 95% CI 1.1-3.0). Variants in the detoxification gene EPHX1 experienced longer survival (HR 0.4 (95% CI 0.2-0.8). These genes can now be assessed in multiple study populations to identify and validate SNPs appropriate for clinical use.

摘要

在西方国家,膀胱癌是男性中第四大常见恶性肿瘤,女性中第八大常见恶性肿瘤。尚未对调节端粒维持、有丝分裂、炎症和细胞凋亡的基因中的单核苷酸多态性(SNP)进行广泛评估。我们采用一项基于人群的研究,纳入832例膀胱癌病例和1191例对照,评估了与癌症易感性或生存率相关的基因变异。研究结果包括,与野生型相比,甲基代谢基因MTHFD2的变异(比值比1.7,95%置信区间1.3 - 2.3)、端粒酶TEP1的变异(比值比1.8,95%置信区间1.2 - 2.6)与风险增加相关,而炎症反应基因变异IL8RB(比值比0.6,95%置信区间0.5 - 0.9)与风险降低相关。较短的生存期与凋亡基因变异相关,包括CASP9(风险比1.8,95%置信区间1.1 - 3.0)。解毒基因EPHX1的变异与较长的生存期相关(风险比0.4(95%置信区间0.2 - 0.8)。现在可以在多个研究人群中对这些基因进行评估,以识别和验证适用于临床的SNP。

相似文献

1
Bladder cancer SNP panel predicts susceptibility and survival.
Hum Genet. 2009 Jun;125(5-6):527-39. doi: 10.1007/s00439-009-0645-6. Epub 2009 Mar 1.
2
Genetic variants in telomere-maintenance genes and bladder cancer risk.
PLoS One. 2012;7(2):e30665. doi: 10.1371/journal.pone.0030665. Epub 2012 Feb 17.
3
Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
Am J Hum Genet. 2006 Mar;78(3):464-79. doi: 10.1086/500848. Epub 2006 Jan 31.
4
Polymorphisms in the XRCC1 gene modify survival of bladder cancer patients treated with chemotherapy.
Int J Cancer. 2013 Oct 15;133(8):2004-9. doi: 10.1002/ijc.28186. Epub 2013 Apr 25.
6
Replicative study of GWAS TP63C/T, TERTC/T, and SLC14A1C/T with susceptibility to bladder cancer in North Indians.
Urol Oncol. 2014 Nov;32(8):1209-14. doi: 10.1016/j.urolonc.2014.05.013. Epub 2014 Sep 11.
7
EGFR pathway polymorphisms and bladder cancer susceptibility and prognosis.
Carcinogenesis. 2009 Jul;30(7):1155-60. doi: 10.1093/carcin/bgp077. Epub 2009 Apr 16.
8
Clinical course of bladder neoplasms and single nucleotide polymorphisms in the CDKN2A gene.
Int J Cancer. 2003 Mar 10;104(1):98-103. doi: 10.1002/ijc.10919.
10

引用本文的文献

1
PLK1 in cancer therapy: a comprehensive review of immunomodulatory mechanisms and therapeutic opportunities.
Front Immunol. 2025 Jun 19;16:1602752. doi: 10.3389/fimmu.2025.1602752. eCollection 2025.
2
Impact of MTHFD2 Expression in Bladder/Breast Cancer and Screening of Its Potential Inhibitor.
ACS Omega. 2024 Oct 23;9(44):44193-44202. doi: 10.1021/acsomega.4c03599. eCollection 2024 Nov 5.
3
Selectivity analysis of diaminopyrimidine-based inhibitors of MTHFD1, MTHFD2 and MTHFD2L.
Sci Rep. 2024 Sep 10;14(1):21073. doi: 10.1038/s41598-024-71879-1.
4
Predictive genetic panel for adult asthma using machine learning methods.
J Allergy Clin Immunol Glob. 2024 May 18;3(3):100282. doi: 10.1016/j.jacig.2024.100282. eCollection 2024 Aug.
5
Genetic Polymorphisms Involved in Bladder Cancer: A Global Review.
Oncol Rev. 2023 Nov 6;17:10603. doi: 10.3389/or.2023.10603. eCollection 2023.
7
RapaCaspase-9-based suicide gene applied to the safety of IL-1RAP CAR-T cells.
Gene Ther. 2023 Sep;30(9):706-713. doi: 10.1038/s41434-023-00404-2. Epub 2023 May 12.
8
Association between long non-coding RNA HOTAIR polymorphism and lung cancer risk: A systematic review and meta-analysis.
Exp Ther Med. 2022 Jun 29;24(2):540. doi: 10.3892/etm.2022.11477. eCollection 2022 Aug.
10
Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study.
JCO Precis Oncol. 2021 Dec 22;5. doi: 10.1200/PO.21.00115. eCollection 2021.

本文引用的文献

1
GSEA-SNP: applying gene set enrichment analysis to SNP data from genome-wide association studies.
Bioinformatics. 2008 Dec 1;24(23):2784-5. doi: 10.1093/bioinformatics/btn516. Epub 2008 Oct 14.
3
Expression of alpha-methylacyl-CoA racemase correlates with histopathologic grading in noninvasive bladder cancer.
Virchows Arch. 2008 Aug;453(2):165-70. doi: 10.1007/s00428-008-0638-1. Epub 2008 Jul 22.
4
Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.
Carcinogenesis. 2008 Oct;29(10):1955-62. doi: 10.1093/carcin/bgn163. Epub 2008 Jul 16.
5
Polo-like kinase-1 is activated by aurora A to promote checkpoint recovery.
Nature. 2008 Sep 4;455(7209):119-23. doi: 10.1038/nature07185. Epub 2008 Jul 9.
6
Tissue distribution of human AKR1C3 and rat homolog in the adult genitourinary system.
J Histochem Cytochem. 2008 Sep;56(9):853-61. doi: 10.1369/jhc.2008.951384. Epub 2008 Jun 23.
8
Insulin-like growth factor-1 promoter polymorphisms and colorectal cancer: a functional genomics approach.
Gut. 2008 Aug;57(8):1090-6. doi: 10.1136/gut.2007.140855. Epub 2008 Feb 28.
9
Alpha-methylacyl-CoA racemase--an 'obscure' metabolic enzyme takes centre stage.
FEBS J. 2008 Mar;275(6):1089-102. doi: 10.1111/j.1742-4658.2008.06290.x. Epub 2008 Feb 12.
10
Identification of genetic variants that influence circulating IGF1 levels: a targeted search strategy.
Hum Mol Genet. 2008 May 15;17(10):1457-64. doi: 10.1093/hmg/ddn034. Epub 2008 Feb 4.

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

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验