title: The MBD4 Glu346Lys polymorphism is associated with the risk of cervical cancer in a Chinese population.
abstract: 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.
authors.affiliation: Aging Research Institute, Guangdong Medical College, Dongguan, China. xiongxingdong@126.com
authors.forename: Xing-Dong
authors.initials: XD
authors.lastname: Xiong
authors.forename: Xi-Ping
authors.initials: XP
authors.lastname: Luo
authors.forename: Xinguang
authors.initials: X
authors.lastname: Liu
authors.forename: Xia
authors.initials: X
authors.lastname: Jing
authors.forename: Li-Qin
authors.initials: LQ
authors.lastname: Zeng
authors.forename: Ming
authors.initials: M
authors.lastname: Lei
authors.forename: Xiao-Shan
authors.initials: XS
authors.lastname: Hong
authors.forename: Yu
authors.initials: Y
authors.lastname: Chen
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution / Q000235:genetics / Q000502:physiology; D044466:Asian People / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D004706:Endodeoxyribonucleases / Q000235:genetics* / Q000502:physiology; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D005973:Glutamine / Q000235:genetics; D006801:Humans; D008239:Lysine / Q000235:genetics; D008875:Middle Aged; D020125:Mutation, Missense / Q000502:physiology; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D002583:Uterine Cervical Neoplasms / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*
chemical_list: D005973:Glutamine; D004706:Endodeoxyribonucleases; C118712:MBD4 protein, human; D008239:Lysine