title: Single-nucleotide gene polymorphisms involving cell death pathways: a study of Chinese patients with lumbar disc herniation.
abstract: OBJECTIVE
  To evaluate the effect of polymorphisms of death pathway genes FAS and FASL on the risk of developing lumbar disc herniation (LDH) in a Northern Chinese population.
  
  
  BACKGROUND
  The FAS receptor-ligand system plays a key role to regulate apoptosis of cell. There is evidence that the apoptosis-mediated FAS receptor-ligand system is involved in the pathogenesis of disc degeneration. Some research considered single-nucleotide polymorphisms of FAS-1377G/A, FAS-670A/G, FASL-844T/C, and FASL INV2nt-124A/G may increase the risk of developing cancer. We therefore assess these four single-nucleotide polymorphisms as candidate susceptibility for LDH.
  
  
  METHODS
  A total of 475 patients with LDH and 533 control subjects were selected. Genotypes were determined by polymerase chain reaction-based restriction fragment length polymorphism and matrix-assisted laser desorption ionization time-of-flight mass spectrometry. Associations with the risk of LDH were estimated by logistic regression model.
  
  
  RESULTS
  Significant differences were found in genotypic distributions between cases and controls for FASL-844T/C, but not for other three polymorphisms. When compared with CC genotype, subjects with the TT genotype had a higher risk to develop LDH (odds ratio = 3.12; 95% confidence interval: 1.73-5.40). Moreover, an association was found between this genotype of FASL-844TT and more severe grades of disc degeneration. We observed statistically significant interactions between polymorphisms of FASL-844T/C and lumbar load, tobacco smoking, and age.
  
  
  CONCLUSIONS
  Genetic polymorphisms of FASL-844T/C may be associated with an increased risk of developing disc degeneration and LDH.
authors.affiliation: Department of Orthopaedics, Shaanxi Provincial People's Hospital, Xi'an, Shaanxi, China. szmnx3@yahoo.cn
authors.forename: Zhengming
authors.initials: Z
authors.lastname: Sun
authors.forename: Ming
authors.initials: M
authors.lastname: Ling
authors.forename: Yanhai
authors.initials: Y
authors.lastname: Chang
authors.forename: Yuping
authors.initials: Y
authors.lastname: Huo
authors.forename: Guang
authors.initials: G
authors.lastname: Yang
authors.forename: Yuqiang
authors.initials: Y
authors.lastname: Ji
authors.forename: Yaping
authors.initials: Y
authors.lastname: Li
mesh_terms: D000328:Adult; D017209:Apoptosis / Q000235:genetics*; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D002681:China / Q000208:ethnology; D053222:Fas Ligand Protein / Q000235:genetics*; D005260:Female; D006801:Humans; D007405:Intervertebral Disc Displacement / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D008159:Lumbar Vertebrae; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D019014:fas Receptor / Q000235:genetics*
chemical_list: C491901:FAS protein, human; D053222:Fas Ligand Protein; D019014:fas Receptor