title: [Association of single nucleotide polymorphism in human CYP8B1 gene with gallstone disease].
abstract: OBJECTIVE
  To identify the single nucleotide polymorphisms of human CYP8B1gene and explore the association of some of these SNPs with gallstone disease in Chinese population.
  
  
  METHODS
  The exon and part of promoter were sequenced by a fluorescent labeling automatic method to identify and characterize the SNPs in Chinese population. For SNPs with an allelic frequency of over 10%, a case-control study was performed in patients and controls.
  
  
  RESULTS
  Eleven SNPs were found within a 5119 bp region. Among them, 1 was in coding region, 5 in promoter and 5 in 3'-UTR. There were 3 novel SNPs and 12 SNPs in SNP database were not found. The allelic frequency of rs3732860 polymorphism showed a significant difference (P = 0.022) in the association study. The subjects with A allele had a significantly lower frequency of gallstone disease than those with G allele (OR = 1.465, 95%CI 1.055 - 2.034, P = 0.023).
  
  
  CONCLUSIONS
  SNP rs3732860 of CYP8B1 gene is associated with gallstone disease in Chinese population. And A allele may play a protective role in the pathogenesis of gallstone.
authors.affiliation: Department of Surgery, Ruijin Hospital, Shanghai Jiaotong University, Shanghai Institute of Digestive Surgery, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Qin
authors.forename: Zhao-yan
authors.initials: ZY
authors.lastname: Jiang
authors.forename: Zhen-min
authors.initials: ZM
authors.lastname: Niu
authors.forename: Kai-yue
authors.initials: KY
authors.lastname: Zhang
authors.forename: Qi
authors.initials: Q
authors.lastname: Hua
authors.forename: Zhi-hong
authors.initials: ZH
authors.lastname: Jiang
authors.forename: Yi
authors.initials: Y
authors.lastname: Wang
authors.forename: Wei
authors.initials: W
authors.lastname: Huang
authors.forename: Tian-quan
authors.initials: TQ
authors.lastname: Han
authors.forename: Sheng-dao
authors.initials: SD
authors.lastname: Zhang
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D005091:Exons; D005260:Female; D042882:Gallstones / Q000209:etiology / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013253:Steroid 12-alpha-Hydroxylase / Q000235:genetics*
chemical_list: D013253:Steroid 12-alpha-Hydroxylase