Review Article

You have free access to this content

Prostate cancer genomics, biology, and risk assessment through genome-wide association studies

Hidewaki Nakagawa^1,*,
Shusuke Akamatsu^1,2,
Ryo Takata^1,3,
Atsushi Takahashi⁴,
Michiaki Kubo⁵,
Yusuke Nakamura⁶

Article first published online: 29 JAN 2012

DOI: 10.1111/j.1349-7006.2011.02193.x

Issue

Cancer Science

Volume 103, Issue 4, pages 607–613, April 2012

Additional Information

How to Cite

Nakagawa, H., Akamatsu, S., Takata, R., Takahashi, A., Kubo, M. and Nakamura, Y. (2012), Prostate cancer genomics, biology, and risk assessment through genome-wide association studies. Cancer Science, 103: 607–613. doi: 10.1111/j.1349-7006.2011.02193.x

Author Information

¹
Laboratory for Biomarker Development, Center for Genomic Medicine, RIKEN, Yokohama
²
Department of Urology, Graduate School of Medicine, Kyoto University, Kyoto
³
Department of Urology, Iwate Medical University, Morioka
⁴
Laboratory for Statistical Analysis
⁵
Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN, Yokohama
⁶
Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, the University of Tokyo, Tokyo, Japan

^*To whom correspondence should be addressed.
E-mail: hidewaki@ims.u-tokyo.ac.jp

Publication History

Issue published online: 27 MAR 2012
Article first published online: 29 JAN 2012
Accepted manuscript online: 19 DEC 2011 12:40PM EST
Manuscript Accepted: 11 DEC 2011
Manuscript Revised: 22 NOV 2011
Manuscript Received: 16 OCT 2011

Funded by

Japanese Ministry of Education, Culture, Sports, Sciences and Technology. Grant Number: #22390306

ARTICLE TOOLS

View Full Article (HTML) Get PDF (259K)

References

1
Gronberg H. Prostate cancer epidemiology. Lancet 2003; 361: 859–64.
2
Hsing AW, Devesa SS. Trends and patterns of prostate cancer: what do they suggest? Epidemiol Rev 2001; 23: 3–13.
3
Schaid DJ. The complex genetic epidemiology of prostate cancer. Hum Mol Genet 2004; 13: R103–21.
4
Lichtenstein P, Holm N, Verkasalo P et al. Environmental and heritable factors in the causation of cancer – analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 2001; 343: 78–85.
5
Matsuda T, Saika K. Comparison of time trends in prostate cancer incidence (1973–2002) in Asia, from cancer incidence in five continents, Vols IV–IX. Jpn J Clin Oncol 2009; 39: 468–9.
- CrossRef,
- PubMed
6
Shimizu H, Ross R, Bernstein L et al. Cancers of the prostate and breast among Japanese and white immigrants in Los Angeles. Br J Cancer 1991; 63: 963–6.
7
Carpten J, Nupponen N, Isaacs S et al. Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nat Genet 2002; 30: 181–4.
8
Tavtigian SV, Simard J, Teng DH et al. A candidate prostate cancer susceptibility gene at chromosome 17p. Nat Genet 2001; 27: 172–80.
9
Xu J, Zheng SL, Komiya A et al. Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk. Nat Genet 2002; 32: 321–5.
10
Edwards SM, Kote-Jarai Z, Meitz J et al. Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet 2003; 72: 1–12.
11
Chang BL, Zheng SL, Isaacs SD et al. Evaluation of SRD5A2 sequence variants in susceptibility to hereditary and sporadic prostate cancer. Prostate 2003; 56: 37–44.
Direct Link:
12
Wang F, Zou YF, Feng XL et al. CYP17 gene polymorphisms and prostate cancer risk: a meta-analysis based on 38 independent studies. Prostate 2011; 71: 1167–77.
Direct Link:
13
Chang BL, Zheng SL, Hawkins GA et al. Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. Cancer Res 2002; 62: 1784–9.
14
Ntais C, Polycarpou A, Ioannidis JP. Association of GSTM1, GSTT1, and GSTP1 gene polymorphisms with the risk of prostate cancer: a meta-analysis. Cancer Epidemiol Biomarkers Prev 2005; 14: 176–81.
15
Chen L, Davey Smith G, Evans DM et al. Genetic variants in the vitamin D receptor are associated with advanced prostate cancer at diagnosis: findings from the prostate testing for cancer and treatment study and a systematic review. Cancer Epidemiol Biomarkers Prev 2009; 18: 2874–81.
16
Amundadottir LT, Sulem P, Gudmundsson J et al. A common variant associated with prostate cancer in European and African populations. Nat Genet 2006; 38: 652–8.
17
Gudmundsson J, Sulem P, Manolescu A et al. Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet 2007; 39: 631–7.
18
Haiman CA, Patterson N, Freedman ML et al. Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet 2007; 39: 638–44.
19
Yeager M, Orr N, Hayes RB et al. Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat Genet 2007; 39: 645–9.
20
Gudmundsson J, Sulem P, Rafnar T et al. Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. Nat Genet 2008; 40: 281–3.
21
Thomas G, Jacobs KB, Yeager M et al. Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet 2008; 40: 310–5.
22
Eeles RA, Kote-Jarai Z, Giles GG et al. Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet 2008; 40: 316–21.
23
Yeager M, Chatterjee N, Ciampa J et al. Identification of a new prostate cancer susceptibility locus on chromosome 8q24. Nat Genet 2009; 41: 1055–7.
24
Al Olama AA, Kote-Jarai Z, Giles GG et al. Multiple loci on 8q24 associated with prostate cancer susceptibility. Nat Genet 2009; 41: 1058–60.
25
Gudmundsson J, Sulem P, Gudbjartsson DF et al. Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility. Nat Genet 2009; 41: 1122–6.
26
Eeles R, Kote-Jarai Z, Al Olama AA et al. Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet 2009; 41: 1116–21.
27
Takata R, Akamatsu S, Kubo M et al. Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. Nat Genet 2010; 42: 751–4.
28
Kote-Jarai Z, Al Olama AA, Giles GG et al. Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. Nat Genet 2011; 43: 785–9.
29
Haiman CA, Chen GK, Blot WJ et al. Genome-wide association study of prostate cancer in men of African ancestry identifies a susceptibility locus at 17q21. Nat Genet 2011; 43: 570–3.
30
Albertsen PC. Treatment of localized prostate cancer: when is active surveillance appropriate? Nat Rev Clin Oncol 2010; 7: 394–400.
31
Konety BR, Bird VY, Deorah S et al. Comparison of the incidence of latent prostate cancer detected at autopsy before and after the prostate specific antigen era. J Urol 2005; 174: 1785–8.
32
Xu J, Zheng SL, Isaacs SD et al. Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. Proc Natl Acad Sci USA 2010; 107: 2136–40.
33
Tomlinson I, Webb E, Carvajal-Carmona L et al. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet 2007; 39: 984–8.
34
Zanke BW, Greenwood CM, Rangrej J et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet 2007; 39: 989–94.
35
Easton DF, Pooley KA, Dunning AM et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007; 447: 1087–93.
36
Goode EL, Chenevix-Trench G, Song H et al. A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet 2010; 42: 874–9.
37
Kiemeney LA, Thorlacius S, Sulem P et al. Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. Nat Genet 2008; 40: 1307–12.
38
Ghoussaini M, Song H, Koessler T et al. Multiple loci with different cancer specificities within the 8q24 gene desert. J Natl Cancer Inst 2008; 100: 962–6.
39
Tuupanen S, Turunen M, Lehtonen R et al. The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat Genet 2009; 41: 885–90.
40
Pomerantz MM, Ahmadiyeh N, Jia L et al. The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer. Nat Genet 2009; 41: 882–4.
41
Jia L, Landan G, Pomerantz M et al. Functional enhancers at the gene-poor 8q24 cancer-linked locus. PLoS Genet 2009; 5: e1000597.
42
Wasserman NF, Aneas I, Nobrega MA. An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer. Genome Res 2010; 20: 1191–7.
43
Ahmadiyeh N, Pomerantz MM, Grisanzio C et al. 8q24 prostate, breast, and colon cancer risk loci show tissue-specific long-range interaction with MYC. Proc Natl Acad Sci USA 2010; 107: 9742–6.
44
Pomerantz MM, Beckwith CA, Regan MM et al. Evaluation of the 8q24 prostate cancer risk locus and MYC expression. Cancer Res 2009; 69: 5568–74.
45
Robbins C, Torres JB, Hooker S et al. Confirmation study of prostate cancer risk variants at 8q24 in African Americans identifies a novel risk locus. Genome Res 2007; 17: 1717–22.
46
Chung S, Nakagawa H, Uemura M et al. Association of a novel long non-coding RNA in 8q24 with prostate cancer susceptibility. Cancer Sci 2011; 102: 245–52.
Direct Link:
47
Chu LW, Meyer TE, Li Q et al. Association between genetic variants in the 8q24 cancer risk regions and circulating levels of androgens and sex hormone-binding globulin. Cancer Epidemiol Biomarkers Prev 2010; 19: 1848–54.
- CrossRef,
- PubMed,
- CAS,
- Web of Science®
48
Chang B, Cramer S, Wiklund F et al. Fine mapping association study and functional analysis implicate a SNP in MSMB at 10q11 as a causal variant for prostate cancer risk. Hum Mol Genet 2009; 18: 1368–75.
49
Lou H, Yeager M, Li H et al. Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 association with prostate cancer susceptibility. Proc Natl Acad Sci USA 2009; 106: 7933–8.
50
Shukeir N, Arakelian A, Kadhim S et al. Prostate secretory protein PSP-94 decreases tumor growth and hypercalcemia of malignancy in a syngenic in vivo model of prostate cancer. Cancer Res 2003; 63: 2072–8.
51
Akamatsu S, Takata R, Ashikawa K et al. A functional variant in NKX3.1 associated with prostate cancer susceptibility down-regulates NKX3.1 expression. Hum Mol Genet 2010; 19: 4265–72.
52
Bhatia-Gaur R, Donjacour A, Sciavolino P et al. Roles for Nkx3.1 in prostate development and cancer. Genes Dev 1999; 13: 966–77.
53
Wang X, Kruithof-de Julio M, Economides K et al. A luminal epithelial stem cell that is a cell of origin for prostate cancer. Nature 2009; 461: 495–500.
54
Bova G, Carter B, Bussemakers M et al. Homozygous deletion and frequent allelic loss of chromosome 8p22 loci in human prostate cancer. Cancer Res 1993; 53: 3869–73.
55
He W, Sciavolino P, Wing J et al. A novel human prostate-specific, androgen-regulated homeobox gene (NKX3.1) that maps to 8p21, a region frequently deleted in prostate cancer. Genomics 1997; 43: 69–77.
56
Voeller H, Augustus M, Madike V et al. Coding region of NKX3.1, a prostate-specific homeobox gene on 8p21, is not mutated in human prostate cancers. Cancer Res 1997; 57: 4455–9.
57
Haiman CA, Chen GK, Blot WJ et al. Characterizing genetic risk at known prostate cancer susceptibility loci in African Americans. PLoS ONE 2011; 7: e1001387.
- CAS
58
Pi M, Chen L, Huang MZ et al. GPRC6A null mice exhibit osteopenia, feminization and metabolic syndrome. PLoS ONE 2008; 3: e3858.
59
Pi M, Quarles LD. GPRC6A regulates prostate cancer progression. Prostate 2011; DOI: 10.1002/pros.21442 [Epub ahead of print].
- PubMed
60
Bonovas S, Filioussi K, Tsantes A. Diabetes mellitus and risk of prostate cancer: a meta-analysis. Diabetologia 2004; 47: 1071–8.
61
Sun J, Zheng SL, Wiklund F et al. Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12. Nat Genet 2008; 40: 1153–5.
62
Lindner TH, Njolstad PR, Horikawa Y et al. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet 1999; 8: 2001–8.
63
Pontoglio M. Hepatocyte nuclear factor 1, a transcription factor at the crossroads of glucose homeostasis. J Am Soc Nephrol 2000; 11: S140–3.
64
Spurdle AB, Thompson DJ, Ahmed S et al. Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nat Genet 2011; 43: 451–4.
65
Li L, Yang Y, Yang G et al. The role of JAZF1 on lipid metabolism and related genes in vitro. Metabolism 2011; 60: 523–30.
- CrossRef,
- PubMed,
- CAS,
- Web of Science®
66
Soranzo N, Rivadeneira F, Chinappen-Horsley U et al. Meta-analysis of genome-wide scans for human adult stature identifies novel loci and associations with measures of skeletal frame size. PLoS Genet 2009; 5: e1000445.
67
Zeggini E, Scott LJ, Saxena R et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 2008; 40: 638–45.
68
Frayling TM, Colhoun H, Florez JC. A genetic link between type 2 diabetes and prostate cancer. Diabetologia 2008; 51: 1757–60.
69
Lilja H, Ulmert D, Vickers AJ. Prostate-specific antigne and prostate cancer: prediction, detection and monitering. Nat Rev Cancer 2008; 8: 268–78.
70
Thompson IM, Pauler DK, Goodman PJ et al. Prevalence of prostate cancer among men with a prostate-specific antigen level < or =4.0 ng per milliliter. N Engl J Med 2004; 350: 2239–46.
71
Gudmundsson J, Bessenbacher S, Sulem P et al. Genetic correction of PSA values using sequence variants associated with PSA levels. Sci Transl Med 2010; 2: 62ra92.
72
Zheng SL, Sun J, Wiklund F et al. Cumulative association of five genetic variants with prostate cancer. N Engl J Med 2008; 358: 910–9.
73
Salinas CA, Koopmeiners JS, Kwon EM et al. Clinical utulity of five genetic variants for predicting prostate cancer risk and mortaliy. Prostate 2008; 69: 363–72.
Direct Link:
74
Zheng SL, Sun J, Wiklund F et al. Genetic variants and family history predict prostsate cancer similar to prostate-specific antigen. Clin Cancer Res 2009; 15: 1105–11.
75
Nam RK, Zhang WW, Trachtenberg J et al. Utility of incorporating genetic variants for the early detection of prostate cancer. Clin Cancer Res 2009; 15: 1787–93.
76
Xu J, Sun J, Kader AK et al. Estimation of absolute risk for prostate cancer uisng genetic markers and family history. Prostate 2009; 69: 1565–72.
Direct Link:
77
Fackenthal JD, Olopade OI. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer 2007; 7: 937–48.
78
Andriole GL, Bostwick DG, Brawley OW et al. Effect of dutesteride on the risk of prostate cancer. N Engl J Med 2010; 362: 1192–202.
79
Freedman ML, Monteiro ANA, Gayther SA et al. Principles for the post-GWAS functional characterization of cancedr risk loci. Nat Genet 2011; 43: 513–8.

View Full Article (HTML) Get PDF (259K)

JOURNAL TOOLS

JOURNAL MENU

FIND ISSUES

FIND ARTICLES

GET ACCESS

FOR CONTRIBUTORS

ABOUT THIS JOURNAL

SPECIAL FEATURES

Prostate cancer genomics, biology, and risk assessment through genome-wide association studies

Cancer Science

How to Cite

Author Information

Publication History

Funded by

ARTICLE TOOLS

References

More content like this

JOURNAL TOOLS

JOURNAL MENU

FIND ISSUES

FIND ARTICLES

GET ACCESS

FOR CONTRIBUTORS

ABOUT THIS JOURNAL

SPECIAL FEATURES

Prostate cancer genomics, biology, and risk assessment through genome-wide association studies

Cancer Science

How to Cite

Author Information

Publication History

Funded by

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

References

More content like this