title: Impact of interaction between the G870A and EFEMP1 gene polymorphism on glioma risk in Chinese Han population.
abstract: OBJECTIVE
  To investigate the impact of CCND1 and EFEMP1 gene polymorphism, and additional their gene-gene interactions and haplotype within EFEMP1 gene on glioma risk based on Chinese population.
  
  
  METHODS
  Logistic regression was performed to investigate association between single-nucleotide polymorphisms (SNP) and glioma risk and generalized multifactor dimensionality reduction (GMDR) was used to analyze the gene-gene interaction.
  
  
  RESULTS
  Glioma risks were higher in carriers of homozygous mutant of rs603965 within CCND1 gene, rs1346787 and rs3791679 in EFEMP1 gene than those with wild-type homozygotes, OR (95%CI) were 1.67 (1.23-2.02), 1.59 (1.25-2.01) and 1.42 (1.15-1.82), respectively. GMDR analysis indicated a significant two-locus model (p=0.0010) involving rs603965 within CCND1 gene and rs1346787 within EFEMP1 gene. Overall, the cross-validation consistency of the two- locus models was 10\ 10, and the testing accuracy is 60.17%. Participants with rs603965 - GA or AA and rs1346787- AG or GG genotype have the highest glioma risk, compared to participants with rs603965 - GG and rs1346787- AA genotype, OR (95%CI) was 3.65 (1.81-5.22). We conducted haplotype analysis for rs1346787 and rs3791679, because D' value between rs1346787 and rs3791679 was more than 0.8. The most common haplotype was rs1346787 - A and rs3791679- G haplotype, the frequency of which was 0.4905 and 0.4428 in case and control group.
  
  
  CONCLUSIONS
  Polymorphism in rs603965 within CCND1 gene and rs1346787 within EFEMP1 gene and its gene- gene interaction were associated with increased glioma risk.
authors.affiliation: Department of Neurosurgery, Chengdu Military General Hospital, Chengdu, Sichuan 610083, China.
authors.forename: Libin
authors.initials: L
authors.lastname: Yang
authors.affiliation: Department of Neurosurgery, Chengdu Military General Hospital, Chengdu, Sichuan 610083, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Qu
authors.affiliation: Department of Neurosurgery, Chengdu Military General Hospital, Chengdu, Sichuan 610083, China.
authors.forename: Xun
authors.initials: X
authors.lastname: Xia
authors.affiliation: Department of Neurosurgery, Chengdu Military General Hospital, Chengdu, Sichuan 610083, China.
authors.forename: Yongqin
authors.initials: Y
authors.lastname: Kuang
authors.affiliation: Department of Anatomy, Chengdu Medical College, Chengdu, Sichuan 610500, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Neurosurgery, Chengdu Military General Hospital, Chengdu, Sichuan 610083, China.
authors.forename: Kexia
authors.initials: K
authors.lastname: Fan
authors.affiliation: Department of Neurosurgery, Chengdu Military General Hospital, Chengdu, Sichuan 610083, China.
authors.forename: Heng
authors.initials: H
authors.lastname: Guo
authors.affiliation: Department of Neurosurgery, Chengdu Military General Hospital, Chengdu, Sichuan 610083, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Zheng
authors.affiliation: Department of Neurosurgery, Chengdu Military General Hospital, Chengdu, Sichuan 610083, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Ma
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D019938:Cyclin D1 / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D005910:Glioma / Q000208:ethnology / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C530104:CCND1 protein, human; C119630:EFEMP1 protein, human; D016326:Extracellular Matrix Proteins; D019938:Cyclin D1
keywords: CCND1; EFEMP1; SNP; glioma; interaction