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Potentially functional genetic variants of the notch signaling pathway genes predict survival of Chinese patients with esophageal squamous cell carcinoma.

Publication ,  Journal Article
Wu, Y; Liu, M; Zhang, R; Sun, M; Wei, Q; Zhao, K; Wang, M
Published in: J Gene Med
October 2022

BACKGROUND: The Notch signaling pathway is involved in the progression of esophageal squamous cell carcinoma (ESCC), although the roles of single nucleotide polymorphisms (SNPs) of the Notch signaling pathway genes in the process remain unknown. METHODS: The present study included 1009 patients with histopathologically diagnosed ESCC at Fudan University Shanghai Cancer Center. Two-stage multivariate Cox proportional hazards regression analysis was used to estimate associations between 13,248 SNPs in 103 Notch signaling pathway genes and overall survival of the patients. RESULTS: We found that overall survival of the patients was significantly associated with genotypes of HDAC9 rs1729318 (AT+TT vs. AA: hazard ratio = 1.44, 95% confidence interval = 1.16-1.80, pcombined  = 0.001) and HDAC9 rs1339555498 (GT + TT vs. GG: hazard ratio = 1.38, 95% confidence interval = 1.10-1.74, pcombined = 0.005). Further receiver operator characteristic (ROC) curve analysis indicated that the model with both available clinical factors and these two SNPs improved the area under the ROC curve compared to the model with clinical factors only (1-year: 0.66 vs. 0.64, p = 0.034). Additional expression quantitative trait loci analysis showed that the rs1729318 T variant genotypes were associated with increased mRNA expression levels of HDAC9 in normal esophageal muscular tissue (p = 0.003). CONCLUSIONS: The results suggest that these two potential functional SNPs on HDAC9 may serve as biomarkers for predicting survival of ESCC patients. However, further studies are needed to confirm these findings.

Duke Scholars

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Published In

J Gene Med

DOI

EISSN

1521-2254

Publication Date

October 2022

Volume

24

Issue

10

Start / End Page

e3438

Location

England

Related Subject Headings

  • Signal Transduction
  • Receptors, Notch
  • RNA, Messenger
  • Humans
  • Esophageal Squamous Cell Carcinoma
  • Esophageal Neoplasms
  • China
  • Biotechnology
  • 3202 Clinical sciences
  • 1103 Clinical Sciences
 

Citation

APA
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ICMJE
MLA
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Wu, Y., Liu, M., Zhang, R., Sun, M., Wei, Q., Zhao, K., & Wang, M. (2022). Potentially functional genetic variants of the notch signaling pathway genes predict survival of Chinese patients with esophageal squamous cell carcinoma. J Gene Med, 24(10), e3438. https://doi.org/10.1002/jgm.3438
Wu, Yuanna, Ming Liu, Ruoxin Zhang, Menghong Sun, Qingyi Wei, Kuaile Zhao, and Mengyun Wang. “Potentially functional genetic variants of the notch signaling pathway genes predict survival of Chinese patients with esophageal squamous cell carcinoma.J Gene Med 24, no. 10 (October 2022): e3438. https://doi.org/10.1002/jgm.3438.
Wu, Yuanna, et al. “Potentially functional genetic variants of the notch signaling pathway genes predict survival of Chinese patients with esophageal squamous cell carcinoma.J Gene Med, vol. 24, no. 10, Oct. 2022, p. e3438. Pubmed, doi:10.1002/jgm.3438.
Journal cover image

Published In

J Gene Med

DOI

EISSN

1521-2254

Publication Date

October 2022

Volume

24

Issue

10

Start / End Page

e3438

Location

England

Related Subject Headings

  • Signal Transduction
  • Receptors, Notch
  • RNA, Messenger
  • Humans
  • Esophageal Squamous Cell Carcinoma
  • Esophageal Neoplasms
  • China
  • Biotechnology
  • 3202 Clinical sciences
  • 1103 Clinical Sciences