Possible association between genetic variants in the H2AFX promoter region and risk of adult glioma in a Chinese Han population

Weiwei Fan, Keke Zhou, Yingjie Zhao, Wenting Wu, Hongyan Chen, Li Jin, Gong Chen, Jinlong Shi, Qingyi Wei, Tianbao Zhang, Guhong Du, Ying Mao, Daru Lu, Liangfu Zhou

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


H2AFX, a histone H2A gene family member X, is a key component in the detection of and response to DNA double-strand breaks (DSBs) caused by ionizing radiation (IR), a known risk factor for glioma. Thus, genetic variants in the H2AFX promoter region that may result in abnormal protein expression could confer susceptibility to glioma. In this case-control study, we genotyped three common single-nucleotide polymorphisms (SNPs) (rs643788, rs8551, and rs2509851) in the H2AFX promoter region in 669 adult glioma patients and 638 cancer-free controls. The associations between each SNP or haplotype and glioma risk were estimated by calculating odds ratios (ORs) and the corresponding 95% confidence interval (CI) using unconditional logistic regression models, with adjustment for age and sex. The H2AFX rs643788 A variant genotypes were significantly associated with reduced risk of glioma (GA versus GG: adjusted OR = 0.72, 95% CI = 0.56-0.94; GA/AA versus GG: adjusted OR = 0.75, 95% CI = 0.59-0.94), compared with the common GG genotype. Furthermore, this decreased risk was more evident among those aged ≥45 years (adjusted OR = 0.64, 95% CI = 0.45-0.90), male subjects (adjusted OR = 0.70, 95% CI = 0.50-0.96), and patients with glioblastoma (adjusted OR = 0.66, 95% CI = 0.46-0.94). These results suggest that a common variant in the H2AFX promoter region may modulate risk of glioma, particularly for adult glioma. However, our findings need to be replicated in other independent populations.

Original languageEnglish (US)
Pages (from-to)211-218
Number of pages8
JournalJournal of Neuro-Oncology
Issue number2
StatePublished - Nov 2011
Externally publishedYes


  • Association study
  • DNA repair
  • Glioma
  • H2AFX
  • Tagging SNP

ASJC Scopus subject areas

  • Oncology
  • Neurology
  • Clinical Neurology
  • Cancer Research


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