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The MBD4 Glu346Lys Polymorphism Is Associated With the Risk of Cervical Cancer in a Chinese Population
  1. Xing-Dong Xiong, PhD*,,,
  2. Xi-Ping Luo, MD§,
  3. Xinguang Liu, PhD*,,,
  4. Xia Jing, BSc*,,,
  5. Li-Qin Zeng, MD§,
  6. Ming Lei, BSc*,,,
  7. Xiao-Shan Hong, MD§ and
  8. Yu Chen, MD§
  1. *Aging Research Institute,
  2. Institute of Biochemistry& Molecular Biology,
  3. Key Laboratory for Medical Molecular Diagnostics of Guangdong Province, Guangdong Medical College, Dongguan; and
  4. §Department of Gynecology, Guangdong Women and Children’s Hospital and Health Institute, Guangzhou, People’s Republic of China.
  1. Address correspondence and reprint requests to Xing-Dong Xiong, PhD, Aging Research Institute, Guangdong Medical College, Dongguan 523808, China. E-mail:


Objective Methyl-CpG binding domain 4 (MBD4) protein functions as a DNA repair enzyme and plays an important role in maintaining genome integrity and carcinogenesis. The polymorphisms in the MBD4 gene may be associated with differences in DNA repair capacity and thereby influence an individual’s susceptibility to cervical cancer. To verify this hypothesis, we examined the potential association between the MBD4 Glu346Lys polymorphism (rs140693, G>A) and the risk of cervical cancer in a Chinese population.

Methods We genotyped the MBD4 Glu346Lys polymorphism in 146 cervical cancer cases and 320 healthy female subjects using polymerase chain reaction–based restriction fragment length polymorphism method. Unconditional logistic regression analysis was used to estimate the association between the genotypes and the risk of cervical cancer.

Results We observed a significantly decreased risk of cervical cancer associated with the heterozygous Lys/Glu genotype (odds ratio [OR], 0.60; 95% confidence interval [CI], 0.36–0.99; P = 0.046) and the homozygous Glu/Glu genotype (OR, 0.52; 95% CI, 0.30–0.89; P = 0.018), compared with the Lys/Lys homozygotes. Moreover, the reduced cervical cancer risk was more predominant among younger subjects or human papillomavirus–positive individuals carrying Glu/Glu genotypes (OR, 0.33; 95% CI, 0.14–0.78, P = 0.011; and OR, 0.27; 95% CI, 0.09–0.75, P = 0.013, respectively).

Conclusions The MBD4 codon 346 polymorphism may play a role in cervical cancer susceptibility in the Chinese population. Further larger case-control and functional studies are needed to validate these findings.

  • MBD4
  • Single-nucleotide polymorphism
  • Cervical cancer
  • Risk

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  • This work was supported by grants from the National Natural Science Foundation of China (81000143); the Natural Science Foundation of Guangdong Province (S2011010002922); the Medical Scientific Research Foundation of Guangdong Province (B2009191, A2011431); the Science and Technological Program for Dongguan’s Higher Education, Science and Research, and Health Care Institutions (2011105102007, 200910815256); the Science & Technology Innovation Fund of Guangdong Medical College (STIF201102); the Guangdong University Students Innovative Pilot Program (KY1023); and the Startup Foundation for Doctors of Guangdong Medical College, China (XB0818).

  • The authors declare no conflicts of interest.