Literature DB >> 18515986

Genetic variants of the copy number polymorphic beta-defensin locus are associated with sporadic prostate cancer.

Klaus Huse1, Stefan Taudien, Marco Groth, Philip Rosenstiel, Karol Szafranski, Michael Hiller, Jochen Hampe, Kerstin Junker, Jorg Schubert, Stefan Schreiber, Gerd Birkenmeier, Michael Krawczak, Matthias Platzer.   

Abstract

BACKGROUND/AIMS: Prostate cancer represents the cancer with the highest worldwide prevalence in men. Chromosome 8p23 has shown suggestive genetic linkage to early-onset familial prostate cancer and is frequently deleted in cancer cells of the urogenital tract. Within this locus some beta-defensin genes (among them DEFB4, DEFB103, DEFB104) are localized, which are arranged in a gene cluster shown to exhibit an extensive copy number variation in the population. This structural variation considerably hampers genetic studies. In a new approach considering both sequence as well as copy number variations we aimed to compare the defensin locus at 8p23 in prostate cancer patients and controls.
METHODS: We apply PCR/cloning-based haplotyping and high-throughput copy number determination methods which allow assessment of both individual haplotypes and gene copy numbers not accessible to conventional SNP-based genotyping.
RESULTS: We demonstrate association of four common DEFB104 haplotypes with the risk of prostate cancer in two independent patient cohorts. Moreover, we show that high copy numbers (>9) of the defensin gene cluster are significantly underrepresented in both patient samples.
CONCLUSIONS: Our findings imply a role of the antibacterial defensins in prostate cancerogenesis qualifying distinct gene variants and copy numbers as potential tumor markers. (c) 2008 S. Karger AG, Basel

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Year:  2008        PMID: 18515986     DOI: 10.1159/000135688

Source DB:  PubMed          Journal:  Tumour Biol        ISSN: 1010-4283


  12 in total

1.  Haplotyping and copy number estimation of the highly polymorphic human beta-defensin locus on 8p23 by 454 amplicon sequencing.

Authors:  Stefan Taudien; Marco Groth; Klaus Huse; Andreas Petzold; Karol Szafranski; Jochen Hampe; Philip Rosenstiel; Stefan Schreiber; Matthias Platzer
Journal:  BMC Genomics       Date:  2010-04-19       Impact factor: 3.969

2.  Online resources for genomic structural variation.

Authors:  Tam P Sneddon; Deanna M Church
Journal:  Methods Mol Biol       Date:  2012

3.  Determination of beta-defensin genomic copy number in different populations: a comparison of three methods.

Authors:  Peder Fode; Cathrine Jespersgaard; Robert J Hardwick; Helen Bogle; Michael Theisen; Daniel Dodoo; Martin Lenicek; Libor Vitek; Ana Vieira; Joao Freitas; Paal Skytt Andersen; Edward J Hollox
Journal:  PLoS One       Date:  2011-02-22       Impact factor: 3.240

4.  Gallin; an antimicrobial peptide member of a new avian defensin family, the ovodefensins, has been subject to recent gene duplication.

Authors:  Daoqing Gong; Peter W Wilson; Maureen M Bain; Karina McDade; Jiri Kalina; Virginie Hervé-Grépinet; Yves Nys; Ian C Dunn
Journal:  BMC Immunol       Date:  2010-03-12       Impact factor: 3.615

5.  Variation in human β-defensin genes: new insights from a multi-population study.

Authors:  R K Mehlotra; P A Zimmerman; A Weinberg; R J Jurevic
Journal:  Int J Immunogenet       Date:  2012-11-29       Impact factor: 1.466

6.  Association studies of the copy-number variable ß-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis.

Authors:  Stefan Taudien; Gabor Gäbel; Oliver Kuss; Marco Groth; Robert Grützmann; Klaus Huse; Alexander Kluttig; Andreas Wolf; Michael Nothnagel; Philip Rosenstiel; Karin Halina Greiser; Karl Werdan; Michael Krawczak; Christian Pilarsky; Matthias Platzer
Journal:  BMC Res Notes       Date:  2012-11-13

7.  Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencing.

Authors:  Stefan Taudien; Karol Szafranski; Marius Felder; Marco Groth; Klaus Huse; Francesca Raffaelli; Andreas Petzold; Xinmin Zhang; Philip Rosenstiel; Jochen Hampe; Stefan Schreiber; Matthias Platzer
Journal:  BMC Genomics       Date:  2011-05-18       Impact factor: 3.969

8.  Detection of recurrent rearrangement breakpoints from copy number data.

Authors:  Anna Ritz; Pamela L Paris; Michael M Ittmann; Colin Collins; Benjamin J Raphael
Journal:  BMC Bioinformatics       Date:  2011-04-21       Impact factor: 3.169

9.  A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia.

Authors:  Robert J Hardwick; Lee R Machado; Luciana W Zuccherato; Suzanne Antolinos; Yali Xue; Nyambura Shawa; Robert H Gilman; Lilia Cabrera; Douglas E Berg; Chris Tyler-Smith; Paul Kelly; Eduardo Tarazona-Santos; Edward J Hollox
Journal:  Hum Mutat       Date:  2011-05-05       Impact factor: 4.878

10.  Narrowing down the distal border of the copy number variable beta-defensin gene cluster on human 8p23.

Authors:  Stefan Taudien; Klaus Huse; Marco Groth; Matthias Platzer
Journal:  BMC Res Notes       Date:  2014-02-19
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