title: Identification of interleukin-6 promoter polymorphisms in the Chinese Han population and their functional significance.
abstract: OBJECTIVE
  Interleukin-6 (IL-6) is a pivotal cytokine in both innate and adaptive immunity. Several polymorphisms in the IL-6 promoter have been reported in Western populations. However, little is known about their occurrence in the Chinese population. The functionality of IL-6 promoter polymorphisms remains controversial.
  
  
  METHODS
  Genetic, functional, and association studies.
  
  
  METHODS
  National key laboratory of trauma and departments of traumatic surgery in two teaching hospitals.
  
  
  METHODS
  A total of 348 healthy blood donors and 105 patients with major trauma.
  
  
  METHODS
  None.
  
  
  RESULTS
  Identification of polymorphisms in the IL-6 promoter was performed using sequencing and restriction fragment length polymorphism methods. Their functionality was assessed by observation of transcription activity, IL-6 production, and their clinical relevance in 105 patients with major trauma. Only one variant (C-572G) was identified in IL-6 promoter in Chinese Han population. This polymorphism was associated with IL-6 production by peripheral leukocytes in response to ex vivo lipopolysaccharide stimulation in an allele-dose-dependent effect. The C-->G variation at position -572 could reduce transcriptional activity of the IL-6 promoter as shown in both U-937 and K562 cell lines. Moreover, the -572 polymorphism was associated with lower risk of sepsis in major trauma patients.
  
  
  CONCLUSIONS
  The -572 polymorphism, a unique variation in the IL-6 promoter in the Chinese Han population, may be used as a relevant risk estimate for sepsis in trauma patients.
authors.affiliation: State Key Laboratory of Trauma, Burns, and Combined Injury, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Daping, Chongqing, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Gu
authors.forename: Ding-yuan
authors.initials: DY
authors.lastname: Du
authors.forename: Jian
authors.initials: J
authors.lastname: Huang
authors.forename: Lian-yang
authors.initials: LY
authors.lastname: Zhang
authors.forename: Qin
authors.initials: Q
authors.lastname: Liu
authors.forename: Pei-fang
authors.initials: PF
authors.lastname: Zhu
authors.forename: Zheng-guo
authors.initials: ZG
authors.lastname: Wang
authors.forename: Jian-xin
authors.initials: JX
authors.lastname: Jiang
mesh_terms: D000293:Adolescent; D000328:Adult; D002681:China; D005260:Female; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D018805:Sepsis / Q000209:etiology / Q000235:genetics*; D014947:Wounds and Injuries / Q000150:complications*
chemical_list: D015850:Interleukin-6