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Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer

  1. Author:
    Yeager, M.
    Deng, Z. M.
    Boland, J.
    Matthews, C.
    Bacior, J.
    Lonsberry, V.
    Hutchinson, A.
    Burdett, L. A.
    Qi, L. Q.
    Jacobs, K. B.
    Gonzalez-Bosquet, J.
    Berndt, S. I.
    Hayes, R. B.
    Hoover, R. N.
    Thomas, G.
    Hunter, D. J.
    Dean, M.
    Chanock, S.

  2. Author Address

    Yeager, Meredith] NCI, Adv Technol Ctr, Gaithersburg, MD 20877 USA. [Hunter, David J.] Harvard Univ, Sch Publ Hlth, Program Mol & Genet Epidemiol, Dept Epidemiol, Boston, MA 02115 USA. [Dean, Michael] NCI, Expt Immunol Lab, Canc & Inflammat Program, Ctr Canc Res, Ft Detrick, MD 21702 USA. [Yeager, Meredith, Deng, Zuoming, Boland, Joseph, Matthews, Casey, Bacior, Jennifer, Lonsberry, Victor, Hutchinson, Amy, Burdett, Laura A.; Qi, Liqun] NCI, Core Genotyping Facil, Adv Technol Program, SAIC Frederick Inc, Ft Detrick, MD 21702 USA. [Jacobs, Kevin B.] Bioinformed Consulting Serv, Gaithersburg, MD 20877 USA. [Hayes, Richard B.] New York Univ Langone, Med Ctr, Div Epidemiol, New York, NY 10016 USA. [Yeager, Meredith, Deng, Zuoming, Boland, Joseph, Matthews, Casey, Bacior, Jennifer, Lonsberry, Victor, Hutchinson, Amy, Burdett, Laura A.; Qi, Liqun, Jacobs, Kevin B.; Gonzalez-Bosquet, Jesus, Berndt, Sonja I.; Hayes, Richard B.; Hoover, Robert N.; Thomas, Gilles, Chanock, Stephen J.] NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA.
    1. Year: 2009
  2. Journal: Human Genetics
    1. 126
    2. 6
    3. Pages: 743-750
  4. Type of Article: Article
  5. ISSN: 0340-6717
  1. Abstract:

    Genome-wide association studies of prostate cancer have identified single nucleotide polymorphism (SNP) markers in a region of chromosome 10q11.2, harboring the microseminoprotein-beta (MSMB) gene. Both the gene product of MSMB, the prostate secretory protein 94 (PSP94) and its binding protein (PSPBP), have been previously investigated as serum biomarkers for prostate cancer progression. Recent functional work has shown that different alleles of the significantly associated SNP in the promoter of MSMB found to be associated with prostate cancer risk, rs10993994, can influence its expression in tumors and in vitro studies. Since it is plausible that additional variants in this region contribute to the risk of prostate cancer, we have used next-generation sequencing technology to resequence a similar to 97-kb region that includes the area surrounding MSMB (chr10: 51,168,025-51,265,101) in 36 prostate cancer cases, 26 controls of European origin, and 8 unrelated CEPH individuals in order to identify additional variants to investigate in functional studies. We identified 241 novel polymorphisms within this region, including 142 in the 51-kb block of linkage disequilibrium (LD) that contains rs10993994 and the proximal promoter of MSMB. No sites were observed to be polymorphic within the exons of MSMB.

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  2. DOI: 10.1007/s00439-009-0723-9
  3. PMID: 19644707

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