Suppr超能文献

亚洲印度裔晚期前列腺癌中RNASEL/HPC1及巨噬细胞清道夫受体1的分析

Analysis of the RNASEL/HPC1, and macrophage scavenger receptor 1 in Asian-Indian advanced prostate cancer.

作者信息

Rennert Hanna, Zeigler-Johnson Charnita, Mittal Rama Devi, Tan Ying-cai, Sadowl Caren M, Edwards Joshua, Finley Matthew J, Mandhani Anil, Mital Balraj, Rebbeck Timothy R

机构信息

Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, New York 10021, USA.

出版信息

Urology. 2008 Aug;72(2):456-60. doi: 10.1016/j.urology.2007.11.139. Epub 2008 Apr 24.

Abstract

OBJECTIVES

Prostate cancer (PC) varies widely by geographic location and ethnicity. American men have a high PC risk but most have localized disease. In contrast, Asian Indians have a low PC risk but most are diagnosed with metastatic disease. Epidemiological and genetic data suggest an important role of genetic susceptibility in PC. Most studies were performed in whites. Substantially less is known about gene variation-associated PC in low-risk populations. The objective of this study was to investigate the role of RNASEL and MSR1 in Asian-Indian men with advanced PC.

METHODS

We genotyped DNA samples obtained from 113 cases and 245 age-matched controls (Northern India).

RESULTS

For RNASEL, we identified 8 variants (7 novel and 1 previously published, D541E), including 4 exonic, 3 intronic, and 1 change in the 3'-noncoding region. Of these, we detected a novel 4-bp truncation mutation (Val51ArgfsX2) in 2 controls. For MSR1, we identified 4 novel variants (2 intronic and 2 exonic) and 2 previously reported variants (P275A and promoter -4,637 A>G). We also genotyped 3 common MSR1 variations (promoter -14,742 A>G, IVS5-59 C>A, and IVS7 delinsTTA). We found no associations among any of the sequence variations and PC. Three major haplotypes account for most of all MSR1 haplotypes in Asian Indians. Haplotype frequencies were not significantly different between cases and controls.

CONCLUSIONS

Our results do not support a role for RNASEL, or MSR1 mutations in advanced Asian-Indian PC. This study warrants additional investigations of these genes in etiology particularly among individuals from diverse ethnic and geographic groups.

摘要

目的

前列腺癌(PC)在地理位置和种族上差异很大。美国男性患PC的风险较高,但大多数为局限性疾病。相比之下,亚洲印度男性患PC的风险较低,但大多数被诊断为转移性疾病。流行病学和遗传学数据表明遗传易感性在PC中起重要作用。大多数研究是在白人中进行的。对于低风险人群中与基因变异相关的PC了解甚少。本研究的目的是调查RNASEL和MSR1在患有晚期PC的亚洲印度男性中的作用。

方法

我们对从113例患者和245例年龄匹配的对照(印度北部)获得的DNA样本进行了基因分型。

结果

对于RNASEL,我们鉴定出8个变异(7个新变异和1个先前发表的D541E),包括4个外显子变异、3个内含子变异和1个3'-非编码区的变化。其中,我们在2例对照中检测到一个新的4碱基截断突变(Val51ArgfsX2)。对于MSR1,我们鉴定出4个新变异(2个内含子变异和2个外显子变异)和2个先前报道的变异(P275A和启动子-4637 A>G)。我们还对3个常见的MSR1变异(启动子-14742 A>G、IVS5-59 C>A和IVS7 delinsTTA)进行了基因分型。我们发现任何序列变异与PC之间均无关联。三个主要单倍型占亚洲印度人所有MSR1单倍型的大部分。病例组和对照组之间的单倍型频率无显著差异。

结论

我们的结果不支持RNASEL或MSR1突变在晚期亚洲印度人PC中起作用。本研究有必要对这些基因在病因学方面进行进一步研究,特别是在来自不同种族和地理群体的个体中。

相似文献

1
Analysis of the RNASEL/HPC1, and macrophage scavenger receptor 1 in Asian-Indian advanced prostate cancer.
Urology. 2008 Aug;72(2):456-60. doi: 10.1016/j.urology.2007.11.139. Epub 2008 Apr 24.
2
Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men.
Cancer Epidemiol Biomarkers Prev. 2010 Feb;19(2):588-99. doi: 10.1158/1055-9965.EPI-09-0864. Epub 2010 Jan 19.
3
MSR1 variants and the risks of prostate cancer and benign prostatic hyperplasia: a population-based study in China.
Carcinogenesis. 2007 Dec;28(12):2530-6. doi: 10.1093/carcin/bgm196. Epub 2007 Sep 3.
6
Mutational analysis of susceptibility genes RNASEL/HPC1, ELAC2/HPC2, and MSR1 in sporadic prostate cancer.
Genes Chromosomes Cancer. 2004 Feb;39(2):119-25. doi: 10.1002/gcc.10308.
7
Association between RNASEL, MSR1, and ELAC2 single nucleotide polymorphisms and gene expression in prostate cancer risk.
Urol Oncol. 2016 Oct;34(10):431.e1-8. doi: 10.1016/j.urolonc.2016.05.018. Epub 2016 Jun 16.
9
Mutation screening and association study of RNASEL as a prostate cancer susceptibility gene.
Br J Cancer. 2005 Mar 28;92(6):1159-64. doi: 10.1038/sj.bjc.6602401.

本文引用的文献

1
Cancer statistics, 2007.
CA Cancer J Clin. 2007 Jan-Feb;57(1):43-66. doi: 10.3322/canjclin.57.1.43.
2
RNASEL gene polymorphisms and the risk of prostate cancer: a meta-analysis.
Clin Cancer Res. 2006 Oct 1;12(19):5713-9. doi: 10.1158/1078-0432.CCR-05-2799.
5
Cancer statistics, 2005.
CA Cancer J Clin. 2005 Jan-Feb;55(1):10-30. doi: 10.3322/canjclin.55.1.10.
7
No association of germline alteration of MSR1 with prostate cancer risk.
Nat Genet. 2003 Oct;35(2):128-9. doi: 10.1038/ng1239. Epub 2003 Sep 7.
9
Common sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk.
Am J Hum Genet. 2003 Jan;72(1):208-12. doi: 10.1086/345802. Epub 2002 Dec 6.
10
RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases.
Nat Genet. 2002 Dec;32(4):581-3. doi: 10.1038/ng1021. Epub 2002 Nov 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