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Genetic variation in the HSD17B1 gene and risk of prostate cancer.

PLoS Genetics. 2005;1(5):e68 DOI 10.1371/journal.pgen.0010068


Journal Homepage

Journal Title: PLoS Genetics

ISSN: 1553-7390 (Print); 1553-7404 (Online)

Publisher: Public Library of Science (PLoS)

LCC Subject Category: Science: Biology (General): Genetics

Country of publisher: United States

Language of fulltext: English

Full-text formats available: PDF, HTML, XML



Peter Kraft

Paul Pharoah

Stephen J Chanock

Demetrius Albanes

Laurence N Kolonel

Richard B Hayes

David Altshuler

Gerald Andriole

Christine Berg

Heiner Boeing

Noel P Burtt

Bas Bueno-de-Mesquita

Eugenia E Calle

Howard Cann

Federico Canzian

Yen-Ching Chen

David E Crawford

Alison M Dunning

Heather S Feigelson

Matthew L Freedman

John M Gaziano

Ed Giovannucci

Carlos Alberto Gonzalez

Christopher A Haiman

Goran Hallmans

Brian E Henderson

Joel N Hirschhorn

David J Hunter

Rudolf Kaaks

Timothy Key

Loic Le Marchand

Jing Ma

Kim Overvad

Domenico Palli

Malcolm C Pike

Elio Riboli

Carmen Rodriguez

Wendy V Setiawan

Meir J Stampfer

Daniel O Stram

Gilles Thomas

Michael J Thun

Ruth Travis

Antonia Trichopoulou

Jarmo Virtamo

Sholom Wacholder


Peer review

Editorial Board

Instructions for authors

Time From Submission to Publication: 26 weeks


Abstract | Full Text

Steroid hormones are believed to play an important role in prostate carcinogenesis, but epidemiological evidence linking prostate cancer and steroid hormone genes has been inconclusive, in part due to small sample sizes or incomplete characterization of genetic variation at the locus of interest. Here we report on the results of a comprehensive study of the association between HSD17B1 and prostate cancer by the Breast and Prostate Cancer Cohort Consortium, a large collaborative study. HSD17B1 encodes 17beta-hydroxysteroid dehydrogenase 1, an enzyme that converts dihydroepiandrosterone to the testosterone precursor Delta5-androsterone-3beta,17beta-diol and converts estrone to estradiol. The Breast and Prostate Cancer Cohort Consortium researchers systematically characterized variation in HSD17B1 by targeted resequencing and dense genotyping; selected haplotype-tagging single nucleotide polymorphisms (htSNPs) that efficiently predict common variants in U.S. and European whites, Latinos, Japanese Americans, and Native Hawaiians; and genotyped these htSNPs in 8,290 prostate cancer cases and 9,367 study-, age-, and ethnicity-matched controls. We found no evidence that HSD17B1 htSNPs (including the nonsynonymous coding SNP S312G) or htSNP haplotypes were associated with risk of prostate cancer or tumor stage in the pooled multiethnic sample or in U.S. and European whites. Analyses stratified by age, body mass index, and family history of disease found no subgroup-specific associations between these HSD17B1 htSNPs and prostate cancer. We found significant evidence of heterogeneity in associations between HSD17B1 haplotypes and prostate cancer across ethnicity: one haplotype had a significant (p < 0.002) inverse association with risk of prostate cancer in Latinos and Japanese Americans but showed no evidence of association in African Americans, Native Hawaiians, or whites. However, the smaller numbers of Latinos and Japanese Americans in this study makes these subgroup analyses less reliable. These results suggest that the germline variants in HSD17B1 characterized by these htSNPs do not substantially influence the risk of prostate cancer in U.S. and European whites.