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Title: Replication and fine mapping for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in the Chinese population
Authors: Long Q.-Z.
Du Y.-F.
Ding X.-Y.
Li X.
Song W.-B.
Yang Y.
Zhang P.
Zhou J.-P.
Liu X.-G. 
Keywords: genomic DNA
C2orf43 gene
cancer susceptibility
controlled study
FOXP4 gene
gene locus
gene mapping
gene replication
genetic association
major clinical study
prostate cancer
RFX6 gene
single nucleotide polymorphism
Asian Continental Ancestry Group
Case-Control Studies
Chromosome Mapping
DNA Replication
DNA-Binding Proteins
Forkhead Transcription Factors
Genome-Wide Association Study
Linkage Disequilibrium
Middle Aged
Neoplasm Proteins
Polymorphism, Single Nucleotide
Prostatic Neoplasms
Receptors, G-Protein-Coupled
Transcription Factors
Issue Date: 2012
Citation: Long Q.-Z., Du Y.-F., Ding X.-Y., Li X., Song W.-B., Yang Y., Zhang P., Zhou J.-P., Liu X.-G. (2012). Replication and fine mapping for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in the Chinese population. PLoS ONE 7 (5) : e37866. ScholarBank@NUS Repository.
Abstract: Background: Prostate cancer represents the leading cause of male death across the world. A recent genome-wide association study (GWAS) identified five novel susceptibility loci for prostate cancer in the Japanese population. This study is to replicate and fine map the potential association of these five loci with prostate cancer in the Chinese Han population. Methods: In Phase I of the study, we tested the five single nucleotide polymorphisms (SNPs) which showed the strongest association evidence in the original GWAS in Japanese. The study sample consists of 1,169 Chinese Hans, comprising 483 patients and 686 healthy controls. Then in phase II, flanking SNPs of the successfully replicated SNPs in Phase I were genotyped and tested for association with prostate cancer to fine map those significant association signals. Results: We successfully replicated the association of rs13385191 (located in the C2orf43 gene, P = 8.60×10 -5 ), rs12653946 (P = 1.33×10 -6 ), rs1983891 (FOXP4, P = 6.22×10 -5 ), and rs339331 (GPRC6A/RFX6, P = 1.42×10 -5 ) with prostate cancer. The most significant odds ratio (OR) was recorded as 1.41 (95% confidence interval 1.18-1.68) for rs12653946. Rs9600079 did not show significant association (P = 8.07×10 -2 ) with prostate cancer in this study. The Phase II study refined these association signals, and identified several SNPs showing more significant association with prostate cancer than the very SNPs tested in Phase I. Conclusions: Our results provide further support for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in Eastern Asian populations. This study also characterized the novel loci reported in the original GWAS with more details. Further work is still required to determine the functional variations and finally clarify the underlying biological mechanisms. © 2012 Long et al.
Source Title: PLoS ONE
ISSN: 19326203
DOI: 10.1371/journal.pone.0037866
Appears in Collections:Staff Publications

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