title: Association of Interleukin 6 gene polymorphisms with genetic susceptibilities to spastic tetraplegia in males: a case-control study.
abstract: BACKGROUND
  Cerebral palsy (CP) is a group of non-progressive motor impairment and permanent disorders causing limitation of activity and abnormal posture. It may be caused by infection (such as chorioamnionitis), asphyxia or multiple genetic factors. The Interleukin 6 gene (IL6) was suggested to be involved in the susceptibilities to CP risk as a kind of proinflammatory cytokine.
  
  
  OBJECTIVE
  To explore the genetic association between the polymorphisms of the IL6 gene and CP in the Chinese population.
  
  
  METHODS
  A total of 542 CP patients and 483 healthy control children were recruited in this study to detect five single nucleotide polymorphisms (rs1800796, rs2069837, rs2066992, rs2069840, and rs10242595) in the IL6 locus. Genotyping of SNPs was performed by the MassArray platform-based genotyping approach. The SHEsis program was applied to analyze the genotyping data.
  
  
  RESULTS
  Of the five selected SNPs, no significant allelic and genotypic association was found between CP patients and controls. However, subgroup analysis found significant differences in allele frequencies between spastic tetraplegia in males compared with controls at rs1800796 (OR=1.39, P=0.033, P=0.099 after SNPSpD correction) and rs2069837 (OR=1.58, P=0.012, P=0.035 after SNPSpD correction). The frequencies of the C allele of rs1800796 and the A allele of rs2069837 were greater in males with spastic tetraplegia than in the controls. The two SNPs haplotype rs1800796 (G) - rs2069837 (G) were also associated with a decreased risk of spastic tetraplegia in males (OR=0.619, P=0.009, P=0.027 after Bonferroni correction).
  
  
  CONCLUSIONS
  Genetic variation of the IL6 gene may influence susceptibility to spastic tetraplegia in males and its role in cerebral palsy deserves further evaluation in a large-scale and well-designed study.
authors: Children's Hospital and Institute of Biomedical Science, Fudan University, Shanghai 201102, China.
authors: Mingjie
authors: M
authors: Chen
authors: Tongchuan
authors: T
authors: Li
authors: Sheyu
authors: S
authors: Lin
authors: Dan
authors: D
authors: Bi
authors: Dengna
authors: D
authors: Zhu
authors: Qing
authors: Q
authors: Shang
authors: Caiyun
authors: C
authors: Ma
authors: Honglian
authors: H
authors: Wang
authors: Lei
authors: L
authors: Wang
authors: Yiting
authors: Y
authors: Zhang
authors: Lin
authors: L
authors: He
authors: Changlian
authors: C
authors: Zhu
authors: Qinghe
authors: Q
authors: Xing
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics*; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011782:Quadriplegia / Q000235:genetics*; D012307:Risk Factors
chemical_list: C508600:IL6 protein, human; D015850:Interleukin-6