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Association of genetic variations in RTN4 3'-UTR with risk for clear cell renal cell carcinoma

Yan Pu1, Peng Chen2, Bin Zhou3

  • 1Department of Forensic Biology, West China School of Basic Sciences and Forensic Medicine, Sichuan University, Chengdu, 610041, Sichuan, People's Republic of China.

Familial Cancer
|July 9, 2017
PubMed

Insights

The TATC insertion/deletion polymorphism in RTN4 3'-UTR may reduce the risk of clear cell renal cell carcinoma (ccRCC). This genetic variation was linked to lower ccRCC occurrence in a Chinese Han population study.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Nogo proteins are implicated in cellular apoptosis, particularly in tumor cells.
  • The RTN4 gene encodes Nogo proteins and its 3"-untranslated region (3 zez-UTR) contains regulatory elements.
  • Genetic variations in 3 zez-UTR can influence gene expression and disease susceptibility.

Purpose of the Study:

  • To investigate the association between TATC (rs71682980) and CAA (rs34917480) insertion/deletion polymorphisms in the RTN4 3 zez-UTR and clear cell renal cell carcinoma (ccRCC) risk.
  • To evaluate the potential role of these polymorphisms in ccRCC development within the Chinese Han population.

Main Methods:

  • Genotyping of TATC and CAA polymorphisms in 308 ccRCC patients and 466 healthy controls using polymerase chain reaction polyacrylamide gel electrophoresis (PCR-PAGE).
  • Statistical analysis including odds ratios (OR) with 95% confidence intervals (CI) and P-values to assess risk.
  • Stratification analysis based on clinical parameters like lymph node metastasis (N0 vs. N1).

Main Results:

  • The TATCins/ins genotype was significantly associated with reduced ccRCC risk compared to TATCdel/del (OR 0.53, P=0.022) and TATCdel/del-del/ins (OR 0.57, P=0.017).
  • Stratification analysis revealed a higher frequency of the TATCins/ins genotype in patients with N0 (no lymph node metastasis) compared to N1 (lymph node metastasis) (P=0.003).
  • No significant association was found for the CAA polymorphism with ccRCC risk (data not detailed in abstract).

Conclusions:

  • The TATC insertion/deletion polymorphism in the RTN4 3 zez-UTR is a potential protective factor against ccRCC in the Chinese Han population.
  • This genetic variant may influence ccRCC susceptibility and potentially impact disease progression, as suggested by its association with lymph node status.
  • Further research is warranted to elucidate the functional mechanisms underlying the protective effect of the TATC polymorphism in ccRCC.
Keywords:
Clear cell renal cell carcinomaGenetic susceptibilityNogo proteinsPolymorphismRTN4

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