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Two single nucleotide polymorphisms in the von Hippel-Lindau tumor suppressor gene in Taiwanese with renal cell

Wen-Chung Wang, Mei-Hua Tsou, Hui-Ju Chen

  • 1School of Medical Laboratory and Biotechnology, Chung Shan Medical University, No,110, Sec, 1, Chien Kuo N, Road, Taichung 402, Taiwan, Republic of China. yenchein@csmu.edu.tw.

BMC Research Notes
|September 14, 2014
PubMed
Abstract

Insights

Genetic variations in the von Hippel-Lindau gene (rs779805 and rs1642742) are linked to renal cell carcinoma (RCC) development in the Taiwanese population. The G allele is more prevalent in patients with late-onset RCC.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Renal cell carcinoma (RCC) is a significant malignancy in Taiwan, with clear-cell RCC being the most common subtype.
  • The von Hippel-Lindau (VHL) tumor suppressor gene plays a crucial role in RCC development.
  • Specific single nucleotide polymorphisms (SNPs), rs779805 and rs1642742, in the VHL gene have been associated with RCC globally.

Purpose of the Study:

  • To investigate the association between VHL gene polymorphisms (rs779805 and rs1642742) and the risk of developing RCC in the Taiwanese population.
  • To determine if these genetic variations contribute to the tumorigenesis of renal cell carcinoma.

Main Methods:

  • Genomic DNA was extracted from tumor and normal tissues of 19 Taiwanese RCC patients.
  • Restriction fragment length polymorphism (RFLP) using BsaJ I and Acc I digestion was employed to screen for allelic polymorphisms.
  • Direct sequencing was used for reconfirmation of the identified polymorphisms.

Main Results:

  • Somatic mutations (AA to AG) were observed at rs779805, consistent with Knudson's two-hit theory.
  • Loss of heterozygosity at both rs779805 and rs1642742 was detected in 10 out of 15 patients aged 50 and above.
  • Higher frequencies of the G allele and AG heterozygotes were found in the germline DNA of RCC patients compared to controls, particularly in late-onset cases.

Conclusions:

  • The presence of the G allele in VHL gene polymorphisms rs779805 and rs1642742 is significantly associated with renal cell carcinoma tumorigenesis.
  • Further research with larger sample sizes is warranted to elucidate the clinical relevance and precise correlation between these VHL gene polymorphisms and RCC risk.

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