AI Article Synopsis

  • The study investigated how certain gene variants relate to p21 expression in patients with HBV-related liver cancer (HCC) in Guangxi, using a genome-wide association approach.
  • Out of 426 HCC patients, 21,643 SNPs were identified, with specific variants in the EGFR and SYNE2 genes showing significant associations with p21 expression levels.
  • Additionally, specific haplotypes in these genes were linked to patient survival rates, suggesting that these variants influence p21 regulation and clinical outcomes independently of the TP53 gene.

Article Abstract

This study was to explore the association between gene variants and p21 expression and investigate the TP53-independent p21 regulation in hepatitis B virus (HBV) related hepatocellular carcinoma (HCC) patients from Guangxi by genome-wide association study. 426 HBV-related HCC patients were enrolled. Results showed that, after quality control, a total of 21,643 SNPs were identified in 107 p21 positive and 298 p21 negative patients. The variants of epidermal growth factor receptor (EGFR; rs2227983 and rs6950826) and spectrin repeat containing, nuclear envelope 2 (SYNE2; rs8010699, rs4027405 and rs1890908) were associated with p21 expression. Moreover the haplotype block (rs2227983 and rs6950826, r(2) = 0.378) in EGFR and the haplotype block in SYNE2 (rs8010699 was in strong LD with rs4027405 and rs1890908 (r(2) = 0.91 and 0.70, respectively)) were identified, and the haplotype A-G of EGFR and haplotype G-A-A of SYNE2 were significantly associated with p21 expression (P < 0.01). rs4027405 and rs1890908 were significantly associated with overall survival, and patients with AG/GG genotypes of SYNE2 gene had a worse overall survival (P = 0.001, P = 0.002). Our findings indicate that variants of EGFR and SYNE2 play an important role in p21 regulation and are associated with the clinical outcome of HBV-related HCC in a TP53-indenpdent manner.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977508PMC
http://dx.doi.org/10.1038/srep31237DOI Listing

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