Replication of Prostate Cancer Risk Loci in a Japanese Case–Control Association Study

Yamada, Hiroki; Penney, Kathryn L.; Takahashi, Hiroyuki; Katoh, Takahiko; Yamano, Yuko; Yamakado, Minoru; Kimura, Takahiro; Kuruma, Hidetoshi; Kamata, Yuko; Egawa, Shin; Freedman, Matthew L.

doi:10.1093/jnci/djp287

Cited by 59 publications

(59 citation statements)

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“…As of this writing, one PCa GWAS has been performed for each of African and Asian ancestries (8,9). Replication studies for variants discovered in European populations have also been performed in these populations (22)(23)(24)(25)(26)(27)(28). The 10q, 17q, and Xp variants (rs10993994, rs4430796, and rs5945619) are associated with PCa risk in men of European, Japanese, and African ancestries (8,(23)(24)(25), and these polymorphisms are also associated with MSMB, NCOA4, HNF1B, and NUDT11 transcripts across all three ethnic groups.…”

Section: Discussionmentioning

confidence: 99%

Genetic and functional analyses implicate the NUDT11 , HNF1B , and SLC22A3 genes in prostate cancer pathogenesis

Grisanzio¹,

Werner²,

Takeda

et al. 2012

Proc. Natl. Acad. Sci. U.S.A.

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103

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One of the central goals of human genetics is to discover the genes and pathways driving human traits. To date, most of the common risk alleles discovered through genome-wide association studies (GWAS) map to nonprotein-coding regions. Because of our relatively poorer understanding of this part of the genome, the functional consequences of trait-associated variants pose a considerable challenge. To identify the genes through which risk loci act, we hypothesized that the risk variants are regulatory elements. For each of 12 known risk polymorphisms, we evaluated the correlation between risk allele status and transcript abundance for all annotated protein-coding transcripts within a 1-Mb interval. A total of 103 transcripts were evaluated in 662 prostate tissue samples [normal (n = 407) and tumor (n = 255)] from 483 individuals [European Americans (n = 233), Japanese (n = 127), and African Americans (n = 123)]. In a pooled analysis, 4 of the 12 risk variants were strongly associated with five transcripts (NUDT11, MSMB, NCOA4, SLC22A3, and HNF1B) in histologically normal tissue (P ≤ 0.001). Although associations were also observed in tumor tissue, they tended to be more attenuated. Previously, we showed that MSMB and NCOA4 participate in prostate cancer pathogenesis. Suppressing the expression of NUDT11, SLC22A3, and HNF1B influences cellular phenotypes associated with tumor-related properties in prostate cancer cells. Taken together, the data suggest that these transcripts contribute to prostate cancer pathogenesis.expression quantitative trait loci | prostate cancer risk SNPs | multi-ethnic

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Section: Discussionmentioning

confidence: 99%

Genetic and functional analyses implicate the NUDT11 , HNF1B , and SLC22A3 genes in prostate cancer pathogenesis

Grisanzio¹,

Werner²,

Takeda

et al. 2012

Proc. Natl. Acad. Sci. U.S.A.

Self Cite

103

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“…Witte also mentions his own work with prostate cancers. A GWA study involving 1300 Japanese men has confirmed 7 of 23 SNPs previously implicated in prostate cancer in European populations, but it reminds us that ethnicity and ancestry are important variables in disease association studies (26).…”

Section: The 2010 Symposiummentioning

confidence: 98%

Overview of the Symposium on Public Health Significance of Genomics and Eco-Genetics

Omenn

2010

Annu. Rev. Public Health

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Genomic and genetic information is rapidly becoming a major element in public health research and emerging public health practice. This symposium reviews the methods, findings, and significance of genomewide association studies from epidemiological and statistical points of view. We examine infectious and inflammatory components of geneenvironment interaction in the respiratory system. We note the need for nutrient and dietary data and many other kinds of environmental exposure data in population-based genomic studies. Then we explore the sufficiency of a well-informed family history for public health and family counseling purposes. Finally, in an era of direct-to-consumer genomic test promotion, we review the evidence on the critical question, will genetic risk profiles motivate individuals and families to choose more healthful behaviors? This symposium builds on the foundation of the symposium on

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“…Summaries of the 16 final studies (Gudmundsson et al, 2007b;Thomas et al, 2008;Sun et al, 2008a,b;Levin et al, 2008;Waters et al, 2009;Penney et al, 2009;Yamada et al, 2009;Helfand et al, 2009Helfand et al, , 2010Hooker et al, 2010;Zhou et al, 2011;Liu et al, 2011;Kim et al, 2011;Lange et al, 2012;Chan et al, 2012), comprised of 30 datasets collectively, are presented in Table 1. Ethnic groups among these datasets were distributed as follows: within 12 datasets 12,038 cases and 11,938 controls were AW; within 7 datasets 8916 cases and 9401 controls were EW; within 6 datasets 2188 cases and 2477 controls were A; and within 3 datasets 1678 cases and 1229 controls were AA.…”

Section: Characteristics Of Reviewed Studiesmentioning

confidence: 99%

“…Of these variants, the G to A 17q12 rs4430796 polymorphism in HNF1β, the one most often associated with both prostate cancer and diabetes mellitus, has been investigated in an increasing number of studies, including several that evaluated its relationship with prostate cancer risk. Molecular epidemiological studies, however, have yielded contradic tory results concerning the potential role of polymorphism rs4430796 in prostate cancer, especially among diverse populations (Gudmundsson et al, 2007b;Thomas et al, 2008;Sun et al, 2008a,b;Levin et al, 2008;Waters et al, 2009;Penney et al, 2009;Yamada et al, 2009;Helfand et al, 2009Helfand et al, , 2010Hooker et al, 2010;Zhou et al, 2011;Liu et al, 2011;Kim et al, 2011;Lange et al, 2012;Chan et al, 2012). Some of these reports evaluated this association in a variety of races including American white (AW), European white (EW), African-American (AA), Latin-American (LA), and Asian (A).…”

Section: Introductionmentioning

confidence: 99%

Racial disparities in the association between diabetes mellitus-associated polymorphic locus rs4430796 of the HNF1βgene and prostate cancer: a systematic review and meta-analysis

et al. 2014

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ABSTRACT. Polymorphism 17q12 rs4430796 within HNF1β is a genetic variant associated with both diabetes mellitus and prostate cancer, but findings on the correlations of rs4430796 with prostate cancer risk specifically are not in agreement, especially among diverse populations. To shed some light on the contradictory findings, therefore, we carried out a meta-analysis by pooling the odds ratios (ORs) with corresponding 95% confidence intervals (CIs) of all currently available case-control studies located within PubMed and Embase databases up to December 2012. A total of 16 studies comprising 30 datasets that collectively involved 25,535 prostate cancer patients and 25,726 controls were ultimately included in this analysis. The meta-analysis of all the studies revealed that the rs4430796 polymorphism was significantly associated Association between rs4430796 and prostate cancer with an increased risk of prostate cancer in all contrast models (OR A vs G = 1.25, 95%CI = 1.21-1.30, P OR < 0.001; OR AA vs GG = 1.53, 95%CI = 1.45-1.62, P OR < 0.001; OR AG vs GG = 1.24, 95%CI = 1.16-1.34, P OR < 0.001; OR AA vs AG+GG = 1.36, 95%CI = 1.30-1.42, P OR < 0.001; OR AA+AG vs GG = 1.37, 95%CI = 1.30-1.44, P OR < 0.001). After subgroup analyses stratified by ethnicity, however, the rs4430796 polymorphism was significantly associated with prostate cancer in both Caucasians and Asians but not in African-Americans. In conclusion, our meta-analysis identified a significant association between the 17q12 rs4430796 polymorphism and prostate cancer risk, although the degree of this association and frequency of the causative allele varied among men of different races.

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Replication of Prostate Cancer Risk Loci in a Japanese Case–Control Association Study

Cited by 59 publications

References 14 publications

Genetic and functional analyses implicate the NUDT11 , HNF1B , and SLC22A3 genes in prostate cancer pathogenesis

Genetic and functional analyses implicate the NUDT11 , HNF1B , and SLC22A3 genes in prostate cancer pathogenesis

Overview of the Symposium on Public Health Significance of Genomics and Eco-Genetics

Racial disparities in the association between diabetes mellitus-associated polymorphic locus rs4430796 of the HNF1βgene and prostate cancer: a systematic review and meta-analysis

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