Functional annotation of risk loci identified through genome‐wide association studies for prostate cancer
作者： Yizhen Lu , Zheng Zhang , Hongjie Yu , S. Lily Zheng , William B. Isaacs
DOI: 10.1002/PROS.21311
关键词:
摘要: BACKGROUND The majority of established prostate cancer (PCa) risk-associated single nucleotide polymorphisms (SNPs) identified from genome-wide association studies do not fall into protein coding regions. Therefore, the mechanisms by which these SNPs affect PCa risk remain unclear. Here, we used a series bioinformatic tools and databases to provide possible molecular insights actions SNPs. METHODOLOGY/PRINCIPAL FINDINGS We performed comprehensive assessment potential functional impact 33 that were confirmed as associated with in previous studies. For additional linkage disequilibrium (LD) (r2 ≥ 0.5), first mapped them genomic annotation databases, including encyclopedia DNA elements (ENCODE), 11 regulatory defined University California Santa Cruz (UCSC) table browser, androgen receptor (AR)-binding sites ChIP-chip technique. Enrichment analysis was then carried out assess whether SNP blocks enriched various sets. Risk significantly over expected chance two sets, AR-binding (P = 0.003), FoxA1-binding (P = 0.05). About one-third are located within regions. CONCLUSIONS/SIGNIFICANCE The significant enrichment may suggest mechanism for initiation, guidance future Prostate 71: 955–963, 2011. © 2010 Wiley-Liss, Inc.
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