RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases

被引：222

作者：

Casey, G ^{[1
]}

Neville, PJ

Plummer, SJ

Xiang, Y

Krumroy, LM

Klein, EA

Catalona, WJ

Nupponen, N

Carpten, JD

Trent, JM

Silverman, RH

Witte, JS

机构：

[1] Case Western Reserve Univ, Dept Epidemiol & Biostat, Cleveland, OH 44106 USA

[2] Cleveland Clin Fdn, Inst Urol, Cleveland, OH 44195 USA

[3] Cleveland Clin Fdn, Lerner Res Inst, Dept Canc Biol, Cleveland, OH 44195 USA

[4] Washington Univ, Dept Urol Surg, St Louis, MO USA

[5] NHGRI, Canc Genet Branch, NIH, Bethesda, MD 20892 USA

来源：

NATURE GENETICS | 2002年 / 32卷 / 04期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/ng1021

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

RNASEL (encoding ribonuclease L) has recently been proposed as a candidate for the hereditary prostate cancer (HPC1) gene. We determined that the RNASEL variant Arg462Gln has three times less enzymatic activity than the wildtype and is significantly associated with prostate cancer risk (P=0.007). At least one copy of the mutated allele that causes this substitution is carried by nearly 60% of the men in our study. Men that are heterozygous with respect to the mutated allele have 50% greater risk of prostate cancer than non-carriers, and homozygotes have more than double the risk.

引用

页码：582 / 583

页数：2

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