title: Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts.
abstract: BACKGROUND
  Recently, a single nucleotide polymorphism (SNP) rs9514089 in SLC10A2 (apical sodium-dependent bile acid transporter gene) has been identified as a susceptibility variant for cholelithiasis in humans.
  
  
  METHODS
  Here we assessed the effects of rs9514089 on gallstone risk and related phenotypes of the metabolic syndrome in the self-contained population of Sorbs (183 cases with gallstones/826 controls). Furthermore, we performed a meta-analysis for effects of rs9514089 on susceptibility for cholelithiasis in three independent cohorts (Stuttgart: 56 cases/71 controls, Aachen: 184 cases/184 controls and Sorbs).
  
  
  RESULTS
  There was no significant association of rs9514089 with gallstone risk, serum lipid parameters and BMI in the Sorbs and in the meta-analysis of all three cohorts (p > 0.05). There was an effect trend in the subgroup of lean subjects but based on different effect directions in the three cohorts there was no significant association in the meta-analysis.
  
  
  CONCLUSIONS
  We were not able to replicate the effect of rs9514089 on gallstone risk in the Sorbs. Further analyses in larger cohorts are required to finally assess the role of genetic variants in SLC10A2 in human gallstone development and lipid metabolism.
authors.affiliation: Department of Medicine, Division of Endocrinology and Nephrology, University of Leipzig, Leipzig, Germany. anke.toenjes@medizin.uni-leipzig.de
authors.forename: Anke
authors.initials: A
authors.lastname: Tönjes
authors.forename: Henning
authors.initials: H
authors.lastname: Wittenburg
authors.forename: Jan
authors.initials: J
authors.lastname: Halbritter
authors.forename: Olga
authors.initials: O
authors.lastname: Renner
authors.forename: Simone
authors.initials: S
authors.lastname: Harsch
authors.forename: Eduard F
authors.initials: EF
authors.lastname: Stange
authors.forename: Frank
authors.initials: F
authors.lastname: Lammert
authors.forename: Michael
authors.initials: M
authors.lastname: Stumvoll
authors.forename: Peter
authors.initials: P
authors.lastname: Kovacs
mesh_terms: D000328:Adult; D000368:Aged; D015992:Body Mass Index; D002784:Cholesterol / Q000097:blood* / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D042882:Gallstones / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D029363:Organic Anion Transporters, Sodium-Dependent / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D027981:Symporters / Q000235:genetics*
chemical_list: D029363:Organic Anion Transporters, Sodium-Dependent; D027981:Symporters; C071908:sodium-bile acid cotransporter; D002784:Cholesterol
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