title: Single nucleotide polymorphism rs3732860 in the 3'-untranslated region of CYP8B1 gene is associated with gallstone disease in Han Chinese.
abstract: OBJECTIVE
  Gallstone disease (GD) is a common disease of multigenetic origin; however, the major susceptibility loci for GD in human populations remain unidentified. This study aimed to identify the genetic factors contributing to gallstone development in Chinese.
  
  
  METHODS
  A genome-wide scan was conducted in 12 Han Chinese GD families to identify linkage loci. The linkage region showing the highest logarithm of odds score encompasses the sterol 12α-hydroxylase gene (CYP8B1). Replication analysis with an independent sample of 192 GD patients and 192 unrelated, matched controls was carried out to verify the associations between CYP8B1 polymorphisms and GD.
  
  
  RESULTS
  Three loci (D3S1266, D4S406, and D9S1682) showed suggestive or nominal evidence of linkage in all 12 GD families. The logarithm of odds score of D3S1266 reached 2.71 in the families with late-onset patients. The single nucleotide polymorphism rs3732860 in the 3'-untranslated region of CYP8B1 showed significant association to GD (P = 0.022), and carriers of the A allele had lower risk of GD (odds ratio = 1.46, 95% confidence interval: 1.055-2.034) compared with carriers of the G allele.
  
  
  CONCLUSIONS
  The single nucleotide polymorphism rs3732860 in the 3'-untranslated region of the CYP8B1 gene is associated with risk of GD in Chinese Han and appears to be responsible for the observed linkage with D3S1266.
authors.affiliation: Department of Surgery, First People's Hospital, Shanghai Jiaotong University, Shanghai, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Qin
authors.forename: Tian-Quan
authors.initials: TQ
authors.lastname: Han
authors.forename: Wen-Tao
authors.initials: WT
authors.lastname: Yuan
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.forename: Jian
authors.initials: J
authors.lastname: Fei
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: Xing-Xing
authors.initials: XX
authors.lastname: Cai
authors.forename: Shi-Jie
authors.initials: SJ
authors.lastname: Xu
authors.forename: Wei
authors.initials: W
authors.lastname: Huang
authors.forename: Sheng-Dao
authors.initials: SD
authors.lastname: Zhang
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D042882:Gallstones / Q000208:ethnology / Q000235:genetics*; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017421:Sequence Analysis
chemical_list: D020413:3' Untranslated Regions; D017931:DNA Primers; D003577:Cytochrome P-450 Enzyme System; C472456:PTGIS protein, human