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

Meredith Yeager; Zuoming Deng; Joseph Boland; Casey Matthews; Jennifer Bacior; Victor Lonsberry; Amy Hutchinson; Laura A. Burdett; Liqun Qi; Kevin B. Jacobs; Jesus Gonzalez-Bosquet; Sonja I. Berndt; Richard B. Hayes; Robert N. Hoover; Gilles Thomas; David J. Hunter; Michael Dean; Stephen J. Chanock

doi:10.1007/s00439-009-0723-9

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

Meredith Yeager, Zuoming Deng, Joseph Boland, Casey Matthews, Jennifer Bacior, Victor Lonsberry, Amy Hutchinson, Laura A. Burdett, Liqun Qi, Kevin B. Jacobs, Jesus Gonzalez-Bosquet, Sonja I. Berndt, Richard B. Hayes, Robert N. Hoover, Gilles Thomas, David J. Hunter, Michael Dean, Stephen J. Chanock

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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-β (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 ~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.

Original language	English (US)
Pages (from-to)	743-750
Number of pages	8
Journal	Human genetics
Volume	126
Issue number	6
DOIs	https://doi.org/10.1007/s00439-009-0723-9
State	Published - Dec 2009
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Yeager, M., Deng, Z., Boland, J., Matthews, C., Bacior, J., Lonsberry, V., Hutchinson, A., Burdett, L. A., Qi, L., Jacobs, K. B., Gonzalez-Bosquet, J., Berndt, S. I., Hayes, R. B., Hoover, R. N., Thomas, G., Hunter, D. J., Dean, M., & Chanock, S. J. (2009). Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer. Human genetics, 126(6), 743-750. https://doi.org/10.1007/s00439-009-0723-9

Yeager, M, Deng, Z, Boland, J, Matthews, C, Bacior, J, Lonsberry, V, Hutchinson, A, Burdett, LA, Qi, L, Jacobs, KB, Gonzalez-Bosquet, J, Berndt, SI, Hayes, RB, Hoover, RN, Thomas, G, Hunter, DJ, Dean, M & Chanock, SJ 2009, 'Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer', Human genetics, vol. 126, no. 6, pp. 743-750. https://doi.org/10.1007/s00439-009-0723-9

@article{a8f6c50658474fa2bc5c214c1bd48346,

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

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-β (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 ~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.",

author = "Meredith Yeager and Zuoming Deng and Joseph Boland and Casey Matthews and Jennifer Bacior and Victor Lonsberry and Amy Hutchinson and Burdett, {Laura A.} and Liqun Qi and Jacobs, {Kevin B.} and Jesus Gonzalez-Bosquet and Berndt, {Sonja I.} and Hayes, {Richard B.} and Hoover, {Robert N.} and Gilles Thomas and Hunter, {David J.} and Michael Dean and Chanock, {Stephen J.}",

note = "Funding Information: Acknowledgments This project has been funded in whole or in part with federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government.",

year = "2009",

month = dec,

doi = "10.1007/s00439-009-0723-9",

language = "English (US)",

volume = "126",

pages = "743--750",

journal = "Human genetics",

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T1 - Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer

AU - Yeager, Meredith

AU - Deng, Zuoming

AU - Boland, Joseph

AU - Matthews, Casey

AU - Bacior, Jennifer

AU - Lonsberry, Victor

AU - Hutchinson, Amy

AU - Burdett, Laura A.

AU - Qi, Liqun

AU - Jacobs, Kevin B.

AU - Gonzalez-Bosquet, Jesus

AU - Berndt, Sonja I.

AU - Hayes, Richard B.

AU - Hoover, Robert N.

AU - Thomas, Gilles

AU - Hunter, David J.

AU - Dean, Michael

AU - Chanock, Stephen J.

N1 - Funding Information: Acknowledgments This project has been funded in whole or in part with federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government.

PY - 2009/12

Y1 - 2009/12

N2 - Genome-wide association studies of prostate cancer have identified single nucleotide polymorphism (SNP) markers in a region of chromosome 10q11.2, harboring the microseminoprotein-β (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 ~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.

AB - Genome-wide association studies of prostate cancer have identified single nucleotide polymorphism (SNP) markers in a region of chromosome 10q11.2, harboring the microseminoprotein-β (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 ~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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AN - SCOPUS:71349084865

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JO - Human genetics

JF - Human genetics

IS - 6

ER -

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

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