Germline genetic variations in PDZD2 and ITPR2 genes are associated with clear cell renal cell carcinoma in Chinese population

Oncotarget. 2017 Apr 11;8(15):24196-24201. doi: 10.18632/oncotarget.6917.

Abstract

Genome-wide association studies (GWAS) of renal cell carcinoma (RCC) have identified single nucleotide polymorphisms (SNPs) associated with RCC in European and African American population. In this study, we evaluated whether these SNPs are associated with clear cell RCC (ccRCC) in Chinese population. All reported RCC risk-associated SNPs from GWAS were evaluated in 346 ccRCC cases and 1,130 controls. Rs10054504 (at PDZD2, Odds ratio, OR = 0.71, 95%CI:0.59-0.86, P = 0.0006), rs718314 (at ITPR2, OR = 0.56, 95%CI:0.45-0.69, P = 5.26×10-8) and rs1049380 (at ITPR2, by dominant model, OR = 1.58, 95%CI:1.18-2.13, P = 0.0025) were significantly associated with ccRCC risk in Chinese population. To conclude, genetic variations in PDZD2 and ITPR2 are ccRCC-risk associated in Chinese population.

Keywords: Chinese; SNPs; genome-wide association; renal cell carcinoma.

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adult
  • Aged
  • Alleles
  • Carcinoma, Renal Cell / epidemiology
  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology
  • Case-Control Studies
  • China / epidemiology
  • European Continental Ancestry Group / genetics
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Genotype
  • Germ-Line Mutation*
  • Humans
  • Inositol 1,4,5-Trisphosphate Receptors / genetics*
  • Kidney Neoplasms / epidemiology
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Male
  • Middle Aged
  • Neoplasm Grading
  • Neoplasm Proteins / genetics*
  • Neoplasm Staging
  • Odds Ratio
  • Polymorphism, Single Nucleotide

Substances

  • Adaptor Proteins, Signal Transducing
  • ITPR2 protein, human
  • Inositol 1,4,5-Trisphosphate Receptors
  • Neoplasm Proteins
  • PDZD2 protein, human