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Open Access Research article

Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts

Anke Tönjes1*, Henning Wittenburg2, Jan Halbritter1, Olga Renner3, Simone Harsch3, Eduard F Stange4, Frank Lammert5, Michael Stumvoll1 and Peter Kovacs6

Author Affiliations

1 Department of Medicine, Division of Endocrinology and Nephrology, University of Leipzig, Leipzig, Germany

2 Department of Medicine, Division of Gastroenterology and Rheumatology, University of Leipzig, Leipzig, Germany

3 Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology and University of Tuebingen, Stuttgart, Germany

4 Department of Internal Medicine I, Robert Bosch Hospital, Stuttgart, Germany

5 Department of Internal Medicine II, University Saarland, Homburg, Germany

6 Interdisciplinary Centre for Clinical Research, University of Leipzig, Leipzig, Germany

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BMC Medical Genetics 2011, 12:149  doi:10.1186/1471-2350-12-149

Published: 17 November 2011

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.